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    FGFR2 fibroblast growth factor receptor 2 [ Homo sapiens (human) ]

    Gene ID: 2263, updated on 10-Dec-2024

    Summary

    Official Symbol
    FGFR2provided by HGNC
    Official Full Name
    fibroblast growth factor receptor 2provided by HGNC
    Primary source
    HGNC:HGNC:3689
    See related
    Ensembl:ENSG00000066468 MIM:176943; AllianceGenome:HGNC:3689
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BEK; JWS; BBDS; CEK3; CFD1; ECT1; KGFR; TK14; TK25; BFR-1; CD332; K-SAM
    Summary
    The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member is a high-affinity receptor for acidic, basic and/or keratinocyte growth factor, depending on the isoform. Mutations in this gene are associated with Crouzon syndrome, Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis. Multiple alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2009]
    Expression
    Broad expression in skin (RPKM 22.1), thyroid (RPKM 14.8) and 20 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See FGFR2 in Genome Data Viewer
    Location:
    10q26.13
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (121478330..121598458, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (122374405..122494614, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (123237844..123357958, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378523 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_10514 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:123048706-123049666 Neighboring gene MPRA-validated peak1116 silencer Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr10:123099460-123100020 Neighboring gene MPRA-validated peak1117 silencer Neighboring gene MPRA-validated peak1118 silencer Neighboring gene RN7SK pseudogene 167 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:123218320-123219309 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:123244583-123245116 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:123270400-123270915 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_10566 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:123302809-123303308 Neighboring gene Sharpr-MPRA regulatory region 8577 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:123340529-123341307 Neighboring gene Sharpr-MPRA regulatory region 287 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:123353419-123353947 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:123355693-123356428 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:123356429-123357164 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2885 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:123370062-123371261 Neighboring gene uncharacterized LOC107984183 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:123383269-123383770 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:123383771-123384270 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:123403785-123404286 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:123427853-123428402 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:123428403-123428952 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:123441905-123442847 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:123455051-123455552 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:123455553-123456052 Neighboring gene ribosomal protein S15a pseudogene 5

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Acrocephalosyndactyly type I Compare labs
    Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis Compare labs
    Beare-Stevenson cutis gyrata syndrome Compare labs
    Bent bone dysplasia syndrome 1 Compare labs
    Crouzon syndrome Compare labs
    Familial scaphocephaly syndrome, McGillivray type
    MedGen: C1865070 OMIM: 609579 GeneReviews: Not available
    Compare labs
    Gastric cancer
    MedGen: C0024623 OMIM: 613659 GeneReviews: Not available
    Compare labs
    Isolated coronal synostosis Compare labs
    Jackson-Weiss syndrome Compare labs
    LADD syndrome 1
    MedGen: C5774323 OMIM: 149730 GeneReviews: Not available
    Compare labs
    Pemigatinib response
    MedGen: CN297576 GeneReviews: Not available
    Compare labs
    Pfeiffer syndrome Compare labs
    Saethre-Chotzen syndrome
    MedGen: C0175699 OMIM: 101400 GeneReviews: Saethre-Chotzen Syndrome
    Compare labs

    EBI GWAS Catalog

    Items 1 - 10 of 15
    Description
    A combined analysis of genome-wide association studies in breast cancer.
    EBI GWAS Catalog
    A genome-wide association study identifies a genetic variant in the SIAH2 locus associated with hormonal receptor-positive breast cancer in Japanese.
    EBI GWAS Catalog
    A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer.
    EBI GWAS Catalog
    A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age.
    EBI GWAS Catalog
    A meta-analysis of genome-wide association studies for adiponectin levels in East Asians identifies a novel locus near WDR11-FGFR2.
    EBI GWAS Catalog
    A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1).
    EBI GWAS Catalog
    Common genetic variants and modification of penetrance of BRCA2-associated breast cancer.
    EBI GWAS Catalog
    Genetic correction of PSA values using sequence variants associated with PSA levels.
    EBI GWAS Catalog
    Genetic variants associated with breast cancer risk for Ashkenazi Jewish women with strong family histories but no identifiable BRCA1/2 mutation.
    EBI GWAS Catalog
    Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
    EBI GWAS Catalog
    Genome-wide association study identifies five new breast cancer susceptibility loci.
    EBI GWAS Catalog
    Genome-wide association study identifies novel breast cancer susceptibility loci.
    EBI GWAS Catalog
    Genome-wide association study of breast cancer in the Japanese population.
    EBI GWAS Catalog
    Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
    EBI GWAS Catalog
    Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study.
    EBI GWAS Catalog
    Items 1 - 10 of 15

    Pathways from PubChem

    Interactions

    General gene information

    Clone Names

    • FLJ98662

    Gene Ontology Provided by GOA

    Items 1 - 25 of 30
    Function Evidence Code Pubs
    enables ATP binding  
    enables GPI-linked ephrin receptor activity  
    enables boss receptor activity  
    enables brain-derived neurotrophic factor receptor activity  
    enables epidermal growth factor receptor activity  
    enables fibroblast growth factor binding  
    enables fibroblast growth factor binding PubMed 
    enables fibroblast growth factor binding PubMed 
    enables fibroblast growth factor receptor activity  
    enables fibroblast growth factor receptor activity PubMed 
    enables fibroblast growth factor receptor activity PubMed 
    enables fibroblast growth factor receptor activity PubMed 
    enables heparin binding  
    enables hepatocyte growth factor receptor activity  
    enables histone H2AXY142 kinase activity  
    enables histone H3Y41 kinase activity  
    enables identical protein binding PubMed 
    enables insulin receptor activity  
    enables insulin-like growth factor receptor activity  
    enables macrophage colony-stimulating factor receptor activity  
    enables placental growth factor receptor activity  
    enables platelet-derived growth factor alpha-receptor activity  
    enables platelet-derived growth factor beta-receptor activity  
    enables protein binding PubMed 
    enables protein homodimerization activity PubMed 
    enables protein tyrosine kinase activity PubMed 
    enables protein tyrosine kinase collagen receptor activity  
    enables stem cell factor receptor activity  
    enables transmembrane-ephrin receptor activity  
    enables vascular endothelial growth factor receptor activity  
    Items 1 - 25 of 30
    Items 1 - 25 of 116
    Process Evidence Code Pubs
    involved_in Kit signaling pathway  
    involved_in angiogenesis  
    involved_in animal organ morphogenesis  
    involved_in apoptotic process  
    involved_in axonogenesis  
    involved_in bone development  
    involved_in bone mineralization  
    involved_in bone morphogenesis  
    involved_in brain-derived neurotrophic factor receptor signaling pathway  
    involved_in branch elongation involved in salivary gland morphogenesis  
    involved_in branching involved in labyrinthine layer morphogenesis  
    involved_in branching involved in prostate gland morphogenesis  
    involved_in branching involved in salivary gland morphogenesis  
    involved_in branching morphogenesis of a nerve  
    involved_in bud elongation involved in lung branching  
    involved_in cell fate commitment  
    involved_in cell surface receptor protein tyrosine kinase signaling pathway  
    involved_in cell-cell signaling  
    involved_in cellular response to hypoxia  
    involved_in cellular response to retinoic acid  
    involved_in cellular response to transforming growth factor beta stimulus  
    involved_in chromatin remodeling  
    involved_in collagen-activated tyrosine kinase receptor signaling pathway  
    involved_in digestive tract development  
    involved_in embryonic cranial skeleton morphogenesis PubMed 
    involved_in embryonic digestive tract morphogenesis  
    involved_in embryonic organ development  
    involved_in embryonic organ morphogenesis  
    involved_in embryonic pattern specification  
    involved_in endochondral bone growth  
    involved_in ephrin receptor signaling pathway  
    involved_in epidermal growth factor receptor signaling pathway  
    involved_in epidermis morphogenesis  
    involved_in epithelial cell differentiation  
    involved_in epithelial cell proliferation involved in salivary gland morphogenesis  
    involved_in epithelial to mesenchymal transition  
    involved_in fibroblast growth factor receptor signaling pathway PubMed 
    acts_upstream_of_or_within fibroblast growth factor receptor signaling pathway PubMed 
    acts_upstream_of_or_within fibroblast growth factor receptor signaling pathway PubMed 
    involved_in fibroblast growth factor receptor signaling pathway involved in hemopoiesis  
    involved_in fibroblast growth factor receptor signaling pathway involved in mammary gland specification  
    involved_in fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow cell  
    involved_in fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development  
    involved_in fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow  
    involved_in gland morphogenesis  
    involved_in hair follicle morphogenesis  
    involved_in hepatocyte growth factor receptor signaling pathway  
    involved_in in utero embryonic development  
    involved_in inner ear morphogenesis  
    involved_in insulin receptor signaling pathway  
    involved_in insulin-like growth factor receptor signaling pathway  
    involved_in lacrimal gland development  
    involved_in lateral sprouting from an epithelium  
    involved_in limb bud formation  
    involved_in lung alveolus development  
    involved_in lung development  
    involved_in lung lobe morphogenesis  
    involved_in lung-associated mesenchyme development  
    involved_in macrophage colony-stimulating factor signaling pathway  
    involved_in mammary gland bud formation  
    involved_in membranous septum morphogenesis  
    involved_in mesenchymal cell differentiation  
    involved_in mesenchymal cell differentiation involved in lung development  
    involved_in mesenchymal cell proliferation involved in lung development  
    involved_in mesodermal cell differentiation  
    involved_in midbrain development  
    involved_in morphogenesis of embryonic epithelium  
    involved_in multicellular organism development  
    involved_in negative regulation of keratinocyte proliferation PubMed 
    involved_in negative regulation of transcription by RNA polymerase II  
    involved_in odontogenesis  
    involved_in orbitofrontal cortex development  
    involved_in organ growth  
    involved_in otic vesicle formation  
    involved_in outflow tract septum morphogenesis  
    involved_in peptidyl-tyrosine phosphorylation PubMed 
    involved_in platelet-derived growth factor receptor-alpha signaling pathway  
    involved_in platelet-derived growth factor receptor-beta signaling pathway  
    involved_in positive regulation of ERK1 and ERK2 cascade  
    involved_in positive regulation of MAPK cascade PubMed 
    involved_in positive regulation of Wnt signaling pathway  
    involved_in positive regulation of canonical Wnt signaling pathway  
    involved_in positive regulation of cardiac muscle cell proliferation  
    involved_in positive regulation of cell cycle  
    involved_in positive regulation of cell division  
    involved_in positive regulation of cell population proliferation PubMed 
    acts_upstream_of_or_within positive regulation of cell population proliferation PubMed 
    involved_in positive regulation of cell population proliferation PubMed 
    involved_in positive regulation of epithelial cell proliferation  
    involved_in positive regulation of epithelial cell proliferation involved in lung morphogenesis  
    involved_in positive regulation of mesenchymal cell proliferation  
    involved_in positive regulation of phospholipase activity PubMed 
    involved_in positive regulation of transcription by RNA polymerase II  
    involved_in positive regulation of vascular associated smooth muscle cell proliferation  
    involved_in post-embryonic development  
    involved_in prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis  
    involved_in prostate epithelial cord elongation  
    involved_in prostate gland morphogenesis  
    involved_in protein autophosphorylation PubMed 
    involved_in pyramidal neuron development  
    involved_in regulation of ERK1 and ERK2 cascade  
    involved_in regulation of morphogenesis of a branching structure  
    involved_in regulation of osteoblast differentiation PubMed 
    involved_in regulation of osteoblast proliferation PubMed 
    involved_in regulation of smooth muscle cell differentiation  
    involved_in regulation of smoothened signaling pathway  
    involved_in reproductive structure development  
    involved_in response to ethanol  
    involved_in response to lipopolysaccharide  
    involved_in skeletal system morphogenesis PubMed 
    involved_in squamous basal epithelial stem cell differentiation involved in prostate gland acinus development  
    involved_in ureteric bud development  
    involved_in vascular endothelial growth factor receptor-1 signaling pathway  
    involved_in vascular endothelial growth factor signaling pathway  
    involved_in ventricular cardiac muscle tissue morphogenesis  
    involved_in ventricular zone neuroblast division  
    Items 1 - 25 of 116
    Component Evidence Code Pubs
    located_in Golgi apparatus  
    located_in cell cortex PubMed 
    located_in cell surface PubMed 
    colocalizes_with collagen-containing extracellular matrix PubMed 
    located_in cytoplasm PubMed 
    located_in cytoplasmic vesicle  
    located_in excitatory synapse  
    located_in extracellular region  
    located_in membrane PubMed 
    located_in nucleus PubMed 
    is_active_in plasma membrane  
    located_in plasma membrane PubMed 
    located_in plasma membrane  
    part_of receptor complex  

    General protein information

    Preferred Names
    fibroblast growth factor receptor 2
    Names
    BEK fibroblast growth factor receptor
    bacteria-expressed kinase
    keratinocyte growth factor receptor
    protein tyrosine kinase, receptor like 14
    NP_000132.3
    NP_001138385.1
    NP_001138386.1
    NP_001138387.1
    NP_001138388.1
    NP_001138389.1
    NP_001138390.1
    NP_001138391.1
    NP_001307583.1
    NP_001307587.1
    NP_075259.4
    NP_075418.1
    XP_006717771.1
    XP_006717773.1
    XP_016871409.1
    XP_016871410.1
    XP_016871413.1
    XP_016871414.1
    XP_024303655.1
    XP_024303656.1
    XP_024303657.1
    XP_024303658.1
    XP_024303659.1
    XP_054221139.1
    XP_054221140.1
    XP_054221141.1
    XP_054221142.1
    XP_054221143.1
    XP_054221144.1
    XP_054221145.1
    XP_054221146.1
    XP_054221147.1
    XP_054221148.1
    XP_054221149.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012449.2 RefSeqGene

      Range
      5001..125129
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_994

    mRNA and Protein(s)

    1. NM_000141.5NP_000132.3  fibroblast growth factor receptor 2 isoform 1 precursor

      See identical proteins and their annotated locations for NP_000132.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1, also referred to as isoform BEK and K-sam.
      Source sequence(s)
      BC037338, BC039243, CB305736, CN345547, CX873387, M87770
      Consensus CDS
      CCDS31298.1
      UniProtKB/Swiss-Prot
      B4DFC2, E7EVR6, E9PCR0, P18443, P21802, Q01742, Q12922, Q14300, Q14301, Q14302, Q14303, Q14304, Q14305, Q14672, Q14718, Q14719, Q1KHY5, Q86YI4, Q8IXC7, Q96KL9, Q96KM0, Q96KM1, Q96KM2, Q9NZU2, Q9NZU3, Q9UD01, Q9UD02, Q9UIH3, Q9UIH4, Q9UIH5, Q9UIH6, Q9UIH7, Q9UIH8, Q9UM87, Q9UMC6, Q9UNS7, Q9UQH7, Q9UQH8, Q9UQH9, Q9UQI0
      UniProtKB/TrEMBL
      A0A0A0MR25
      Related
      ENSP00000351276.6, ENST00000358487.10
      Conserved Domains (7) summary
      cd04973
      Location:47124
      Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
      cd05857
      Location:164248
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      cd05858
      Location:271360
      Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
      smart00409
      Location:174248
      IG; Immunoglobulin
      smart00410
      Location:263359
      IG_like; Immunoglobulin like
      cd05101
      Location:456768
      PTKc_FGFR2; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 2
      pfam07714
      Location:481757
      Pkinase_Tyr; Protein tyrosine kinase
    2. NM_001144913.1NP_001138385.1  fibroblast growth factor receptor 2 isoform 3 precursor

      See identical proteins and their annotated locations for NP_001138385.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate internal in-frame coding exon (as in variant 2), and an alternate 3' terminal exon, compared to transcript variant 1. This results in an isoform (3) with a different, 1 aa longer protein segment in the mid-region, and a novel shorter C-terminus, compared to isoform 1.
      Source sequence(s)
      AC009988, AK026508, M97193, U11814, X56191
      Consensus CDS
      CCDS44489.1
      UniProtKB/TrEMBL
      A0A5S6RJB7
      Related
      ENSP00000358052.1, ENST00000369056.5
      Conserved Domains (6) summary
      cd04973
      Location:47124
      Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
      cd04974
      Location:271358
      Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
      cd05857
      Location:164248
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      smart00410
      Location:263357
      IG_like; Immunoglobulin like
      cd05101
      Location:457768
      PTKc_FGFR2; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 2
      pfam07714
      Location:482758
      Pkinase_Tyr; Protein tyrosine kinase
    3. NM_001144914.1NP_001138386.1  fibroblast growth factor receptor 2 isoform 4 precursor

      See identical proteins and their annotated locations for NP_001138386.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) is missing two consecutive in-frame coding exons compared to transcript variant 1. This results in a shorter isoform (4) lacking an internal protein segment compared to isoform 1.
      Source sequence(s)
      AB084153, BC037338, CB305736, M97193, U11814
      Consensus CDS
      CCDS44486.1
      UniProtKB/TrEMBL
      A0A0A0MR25
      Related
      ENSP00000358057.4, ENST00000369061.8
      Conserved Domains (5) summary
      cd04973
      Location:47124
      Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
      cd05857
      Location:164248
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      smart00410
      Location:47124
      IG_like; Immunoglobulin like
      cd05101
      Location:344656
      PTKc_FGFR2; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 2
      pfam07714
      Location:369645
      Pkinase_Tyr; Protein tyrosine kinase
    4. NM_001144915.2NP_001138387.1  fibroblast growth factor receptor 2 isoform 5 precursor

      See identical proteins and their annotated locations for NP_001138387.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate 5' terminal non-coding exon, and is missing an internal in-frame coding exon, compared to transcript variant 1. This results in a shorter isoform (5) lacking an internal protein segment compared to isoform 1.
      Source sequence(s)
      AK294026, BC037338, CB305736, M87770
      Consensus CDS
      CCDS53584.1
      UniProtKB/TrEMBL
      A0A141AXF4
      Related
      ENSP00000350166.5, ENST00000357555.9
      Conserved Domains (6) summary
      cd05857
      Location:75159
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      cd05858
      Location:182271
      Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
      smart00409
      Location:85159
      IG; Immunoglobulin
      smart00410
      Location:174270
      IG_like; Immunoglobulin like
      cd05101
      Location:367679
      PTKc_FGFR2; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 2
      pfam07714
      Location:392668
      Pkinase_Tyr; Protein tyrosine kinase
    5. NM_001144916.2NP_001138388.1  fibroblast growth factor receptor 2 isoform 6 precursor

      See identical proteins and their annotated locations for NP_001138388.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) uses an alternate 5' terminal exon, and is missing two consecutive in-frame coding exons, compared to transcript variant 1. This results in a shorter isoform (6) lacking an internal protein segment compared to isoform 1.
      Source sequence(s)
      AK308621, BC037338, CB305736, M97193
      UniProtKB/TrEMBL
      E7EVR7
      Conserved Domains (6) summary
      cd05857
      Location:49133
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      cd05858
      Location:156245
      Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
      smart00409
      Location:59133
      IG; Immunoglobulin
      smart00410
      Location:148244
      IG_like; Immunoglobulin like
      cd05101
      Location:341653
      PTKc_FGFR2; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 2
      pfam07714
      Location:366642
      Pkinase_Tyr; Protein tyrosine kinase
    6. NM_001144917.2NP_001138389.1  fibroblast growth factor receptor 2 isoform 7 precursor

      See identical proteins and their annotated locations for NP_001138389.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) is missing two consecutive in-frame coding exons compared to transcript variant 1. This results in a shorter isoform (7) lacking an internal protein segment compared to isoform 1.
      Source sequence(s)
      BC037338, BC039243, CB305736, CN345547, M87771, U11814
      Consensus CDS
      CCDS44487.1
      UniProtKB/TrEMBL
      A0A0A0MR25
      Related
      ENSP00000358056.4, ENST00000369060.8
      Conserved Domains (6) summary
      cd04973
      Location:47124
      Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
      cd05857
      Location:164248
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      smart00410
      Location:47124
      IG_like; Immunoglobulin like
      cd05101
      Location:340652
      PTKc_FGFR2; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 2
      pfam07714
      Location:365641
      Pkinase_Tyr; Protein tyrosine kinase
      cl11960
      Location:271363
      Ig; Immunoglobulin domain
    7. NM_001144918.2NP_001138390.1  fibroblast growth factor receptor 2 isoform 8 precursor

      See identical proteins and their annotated locations for NP_001138390.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) is missing two consecutive in-frame coding exons, and uses an alternate in-frame donor splice site at another coding exon, compared to transcript variant 1. This results in a shorter isoform (8) lacking an internal protein segment and additional 2 aa, compared to isoform 1.
      Source sequence(s)
      BC037338, BC039243, CB305736, CN345547, U11814
      Consensus CDS
      CCDS44485.1
      UniProtKB/TrEMBL
      E7EVR7
      Related
      ENSP00000348559.4, ENST00000356226.8
      Conserved Domains (3) summary
      cd05857
      Location:49133
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      cd05858
      Location:156245
      Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
      cd05101
      Location:339651
      PTKc_FGFR2; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 2
    8. NM_001144919.2NP_001138391.1  fibroblast growth factor receptor 2 isoform 9 precursor

      See identical proteins and their annotated locations for NP_001138391.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) is missing an in-frame coding exon, uses an alternate internal in-frame coding exon (as in variant 2) and an alternate 3' terminal exon, compared to transcript variant 1. This results in a shorter isoform (9), which differs in two internal segments, and has a novel C-terminus compared to isoform 1.
      Source sequence(s)
      AC009988, AK026508, BC039243, CN345547, U11814
      Consensus CDS
      CCDS44488.1
      UniProtKB/TrEMBL
      A0A141AXF0, A0A141AXF1
      Related
      ENSP00000353262.3, ENST00000360144.7
      Conserved Domains (6) summary
      cd04974
      Location:182269
      Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
      cd05857
      Location:75159
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      smart00409
      Location:85159
      IG; Immunoglobulin
      smart00410
      Location:174268
      IG_like; Immunoglobulin like
      cd05101
      Location:368679
      PTKc_FGFR2; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 2
      pfam07714
      Location:393669
      Pkinase_Tyr; Protein tyrosine kinase
    9. NM_001320654.2NP_001307583.1  fibroblast growth factor receptor 2 isoform 15

      Status: REVIEWED

      Description
      Transcript Variant: This variant (15) represents use of an alternate promoter and therefore differs in the 5' UTR and 5' coding region compared to variant 1. These differences cause translation initiation at a downstream start codon and result in an isoform (15) with a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AC009988, BC037338, CB305736, X52832
      Consensus CDS
      CCDS81514.1
      UniProtKB/TrEMBL
      A0A141AXF2, S4R381
      Related
      ENSP00000474011.1, ENST00000478859.5
      Conserved Domains (2) summary
      cd05858
      Location:43132
      Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
      cd05101
      Location:228540
      PTKc_FGFR2; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 2
    10. NM_001320658.2NP_001307587.1  fibroblast growth factor receptor 2 isoform 16 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (16) uses an alternate in-frame splice site in the 3' coding region compared to variant 1. The encoded isoform (16) is shorter than isoform 1.
      Source sequence(s)
      BC037338, BC039243, CB305736, CN345547, M97193, U11814
      Consensus CDS
      CCDS81515.1
      UniProtKB/TrEMBL
      A0A0A0MR25
      Related
      ENSP00000309878.10, ENST00000351936.11
      Conserved Domains (7) summary
      cd04973
      Location:47124
      Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
      cd05857
      Location:164248
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      cd05858
      Location:271360
      Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
      smart00409
      Location:174248
      IG; Immunoglobulin
      smart00410
      Location:263359
      IG_like; Immunoglobulin like
      cd05101
      Location:454766
      PTKc_FGFR2; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 2
      pfam07714
      Location:479755
      Pkinase_Tyr; Protein tyrosine kinase
    11. NM_022970.4NP_075259.4  fibroblast growth factor receptor 2 isoform 2 precursor

      See identical proteins and their annotated locations for NP_075259.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate internal in-frame coding exon compared to transcript variant 1, resulting in an isoform (2, also known as isoform K-sam-IIH1, IIIb, and BFR-1) with a different, 1 aa longer protein segment in the mid-region compared to isoform 1.
      Source sequence(s)
      AC009988
      Consensus CDS
      CCDS7620.2
      UniProtKB/TrEMBL
      A0A0A0MR25
      Related
      ENSP00000410294.2, ENST00000457416.7
      Conserved Domains (6) summary
      cd04973
      Location:47124
      Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
      cd04974
      Location:271358
      Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
      cd05857
      Location:164248
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      smart00410
      Location:263357
      IG_like; Immunoglobulin like
      cd05101
      Location:457769
      PTKc_FGFR2; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 2
      pfam07714
      Location:482758
      Pkinase_Tyr; Protein tyrosine kinase
    12. NM_023029.2NP_075418.1  fibroblast growth factor receptor 2 isoform 11 precursor

      See identical proteins and their annotated locations for NP_075418.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11) lacks an in-frame coding exon in the 5' region, compared to variant 1. This results in a shorter isoform (11) lacking an internal protein segment compared to isoform 1.
      Source sequence(s)
      AC009988, AK308621, BC039243, CB305736, EF057068
      Consensus CDS
      CCDS73210.1
      UniProtKB/TrEMBL
      D2CGD1, E7EVR7
      Related
      ENST00000682296.1
      Conserved Domains (6) summary
      cd05857
      Location:75159
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      cd05858
      Location:182271
      Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
      smart00409
      Location:85159
      IG; Immunoglobulin
      smart00410
      Location:174270
      IG_like; Immunoglobulin like
      cd05101
      Location:367679
      PTKc_FGFR2; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 2
      pfam07714
      Location:392668
      Pkinase_Tyr; Protein tyrosine kinase

    RNA

    1. NR_073009.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (14) lacks two consecutive exons in the 5' region and has an additional exon in the center region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AB030073, AC009988, BC039243, BC096749, CB305736, M87771, U11814, X52832

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      121478330..121598458 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017015924.3XP_016871413.1  fibroblast growth factor receptor 2 isoform X10

      UniProtKB/TrEMBL
      E7EVR7
    2. XM_024447891.2XP_024303659.1  fibroblast growth factor receptor 2 isoform X9

      UniProtKB/TrEMBL
      E7EVR7
      Related
      ENSP00000358055.1, ENST00000369059.5
      Conserved Domains (3) summary
      cd05857
      Location:68152
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      cd05101
      Location:361673
      PTKc_FGFR2; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 2
      cl11960
      Location:175262
      Ig; Immunoglobulin domain
    3. XM_024447889.2XP_024303657.1  fibroblast growth factor receptor 2 isoform X8

      UniProtKB/TrEMBL
      A0A141AXF3
      Related
      ENSP00000337665.6, ENST00000336553.10
      Conserved Domains (3) summary
      cd05857
      Location:94178
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      cd05858
      Location:201290
      Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
      cd05101
      Location:384696
      PTKc_FGFR2; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 2
    4. XM_024447887.2XP_024303655.1  fibroblast growth factor receptor 2 isoform X6

      UniProtKB/TrEMBL
      E7EVR7
      Related
      ENSP00000484154.1, ENST00000613048.4
      Conserved Domains (3) summary
      cd05857
      Location:94178
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      cd05858
      Location:201290
      Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
      cd05101
      Location:386698
      PTKc_FGFR2; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 2
    5. XM_024447888.2XP_024303656.1  fibroblast growth factor receptor 2 isoform X7

      UniProtKB/TrEMBL
      E7EVR7
      Conserved Domains (3) summary
      cd05857
      Location:94178
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      cd05101
      Location:385697
      PTKc_FGFR2; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 2
      cl11960
      Location:201288
      Ig; Immunoglobulin domain
    6. XM_024447890.2XP_024303658.1  fibroblast growth factor receptor 2 isoform X5

      UniProtKB/TrEMBL
      E7EVR7
      Conserved Domains (3) summary
      cd05857
      Location:94178
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      cd05101
      Location:387699
      PTKc_FGFR2; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 2
      cl11960
      Location:201288
      Ig; Immunoglobulin domain
    7. XM_006717708.4XP_006717771.1  fibroblast growth factor receptor 2 isoform X1

      UniProtKB/TrEMBL
      A0A0A0MR25
      Conserved Domains (6) summary
      cd04973
      Location:66143
      Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
      cd04974
      Location:290377
      Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
      cd05857
      Location:183267
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      smart00410
      Location:282376
      IG_like; Immunoglobulin like
      cd05101
      Location:474786
      PTKc_FGFR2; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 2
      pfam07714
      Location:499775
      Pkinase_Tyr; Protein tyrosine kinase
    8. XM_017015925.3XP_016871414.1  fibroblast growth factor receptor 2 isoform X11

      UniProtKB/TrEMBL
      A0A804HI76
      Related
      ENSP00000506937.1, ENST00000684153.1
    9. XM_017015921.3XP_016871410.1  fibroblast growth factor receptor 2 isoform X4

      UniProtKB/TrEMBL
      A0A0A0MR25
      Conserved Domains (7) summary
      cd04973
      Location:66143
      Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
      cd05857
      Location:183267
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      cd05858
      Location:290379
      Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
      smart00409
      Location:193267
      IG; Immunoglobulin
      smart00410
      Location:282378
      IG_like; Immunoglobulin like
      cd05101
      Location:473785
      PTKc_FGFR2; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 2
      pfam07714
      Location:498774
      Pkinase_Tyr; Protein tyrosine kinase
    10. XM_017015920.3XP_016871409.1  fibroblast growth factor receptor 2 isoform X3

      UniProtKB/TrEMBL
      A0A5S6RJB7
    11. XM_006717710.5XP_006717773.1  fibroblast growth factor receptor 2 isoform X2

      UniProtKB/TrEMBL
      A0A5S6RJB7
      Conserved Domains (6) summary
      cd04973
      Location:66143
      Ig1_FGFR; First immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
      cd04974
      Location:290377
      Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
      cd05857
      Location:183267
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      smart00410
      Location:282376
      IG_like; Immunoglobulin like
      cd05101
      Location:476788
      PTKc_FGFR2; Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 2
      pfam07714
      Location:501777
      Pkinase_Tyr; Protein tyrosine kinase

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      122374405..122494614 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054365173.1XP_054221148.1  fibroblast growth factor receptor 2 isoform X10

      UniProtKB/TrEMBL
      E7EVR7
    2. XM_054365172.1XP_054221147.1  fibroblast growth factor receptor 2 isoform X9

      UniProtKB/TrEMBL
      E7EVR7
    3. XM_054365171.1XP_054221146.1  fibroblast growth factor receptor 2 isoform X8

      UniProtKB/TrEMBL
      A0A141AXF3
    4. XM_054365169.1XP_054221144.1  fibroblast growth factor receptor 2 isoform X6

      UniProtKB/TrEMBL
      E7EVR7
    5. XM_054365170.1XP_054221145.1  fibroblast growth factor receptor 2 isoform X7

      UniProtKB/TrEMBL
      E7EVR7
    6. XM_054365168.1XP_054221143.1  fibroblast growth factor receptor 2 isoform X5

      UniProtKB/TrEMBL
      E7EVR7
    7. XM_054365164.1XP_054221139.1  fibroblast growth factor receptor 2 isoform X1

      UniProtKB/TrEMBL
      A0A0A0MR25
    8. XM_054365174.1XP_054221149.1  fibroblast growth factor receptor 2 isoform X11

      UniProtKB/TrEMBL
      A0A804HI76
    9. XM_054365167.1XP_054221142.1  fibroblast growth factor receptor 2 isoform X4

      UniProtKB/TrEMBL
      A0A0A0MR25
    10. XM_054365166.1XP_054221141.1  fibroblast growth factor receptor 2 isoform X3

      UniProtKB/TrEMBL
      A0A5S6RJB7
    11. XM_054365165.1XP_054221140.1  fibroblast growth factor receptor 2 isoform X2

      UniProtKB/TrEMBL
      A0A5S6RJB7

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