FGFR3 fibroblast growth factor receptor 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FGFR3provided by HGNC
Official Full Name: fibroblast growth factor receptor 3provided by HGNC
Primary source: HGNC:HGNC:3690
See related: Ensembl:ENSG00000068078 MIM:134934; AllianceGenome:HGNC:3690
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: ACH; CEK2; JTK4; CD333; HSFGFR3EX
Summary: This gene encodes a member of the fibroblast growth factor receptor (FGFR) family, with its amino acid sequence being highly conserved between members and among divergent species. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist 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 binds acidic and basic fibroblast growth hormone and plays a role in bone development and maintenance. Mutations in this gene lead to craniosynostosis and multiple types of skeletal dysplasia. [provided by RefSeq, Aug 2017]
Expression: Biased expression in skin (RPKM 120.7), esophagus (RPKM 18.0) and 8 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4p16.3

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (1793293..1808867)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (1791772..1807344)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (1795020..1810594)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

FGFR3 alterations in bladder cancer: Sensitivity and resistance to targeted therapies.
Title: FGFR3 alterations in bladder cancer: Sensitivity and resistance to targeted therapies.
Muscle-Invasive Bladder Cancer With Hydronephrosis Exhibits a High Frequency of Mutations in Fibroblast Growth Factor Receptor 3 Gene.
Title: Muscle-Invasive Bladder Cancer With Hydronephrosis Exhibits a High Frequency of Mutations in Fibroblast Growth Factor Receptor 3 Gene.
[Clinical characteristics and prognosis of newly diagnosed multiple myeloma patients with FGFR3 gene mutations].
Title: [Clinical characteristics and prognosis of newly diagnosed multiple myeloma patients with FGFR3 gene mutations].
Associations of TACSTD2/TROP2 and NECTIN-4/NECTIN-4 with molecular subtypes, PD-L1 expression, and FGFR3 mutational status in two advanced urothelial bladder cancer cohorts.
Title: Associations of TACSTD2/TROP2 and NECTIN-4/NECTIN-4 with molecular subtypes, PD-L1 expression, and FGFR3 mutational status in two advanced urothelial bladder cancer cohorts.
Exploring FGFR3 Mutations in the Male Germline: Implications for Clonal Germline Expansions and Paternal Age-Related Dysplasias.
Title: Exploring FGFR3 Mutations in the Male Germline: Implications for Clonal Germline Expansions and Paternal Age-Related Dysplasias.
N-glycan on N262 of FGFR3 regulates the intracellular localization and phosphorylation of the receptor.
Title: N-glycan on N262 of FGFR3 regulates the intracellular localization and phosphorylation of the receptor.
Non-Small Cell Lung Carcinoma With Clear Cell Features and FGFR3::TACC3 Gene Rearrangement : Clinicopathologic and Next Generation Sequencing Study of 7 Cases.
Title: Non-Small Cell Lung Carcinoma With Clear Cell Features and FGFR3::TACC3 Gene Rearrangement : Clinicopathologic and Next Generation Sequencing Study of 7 Cases.
FGFR3 Alterations in Bladder Cancer Stimulate Serine Synthesis to Induce Immune-Inert Macrophages That Suppress T-cell Recruitment and Activation.
Title: FGFR3 Alterations in Bladder Cancer Stimulate Serine Synthesis to Induce Immune-Inert Macrophages That Suppress T-cell Recruitment and Activation.
Unravelling the pathogenesis of foramen magnum stenosis in patients with severe achondroplasia: a CT-based comparison with age-matched controls and FGFR3 craniosynostosis syndromes.
Title: Unravelling the pathogenesis of foramen magnum stenosis in patients with severe achondroplasia: a CT-based comparison with age-matched controls and FGFR3 craniosynostosis syndromes.
Genome-wide open reading frame profiling identifies fibroblast growth factor signaling as a driver of PD-L1 expression in head and neck squamous cell carcinoma.
Title: Genome-wide open reading frame profiling identifies fibroblast growth factor signaling as a driver of PD-L1 expression in head and neck squamous cell carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (454)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Achondroplasia MedGen: C0001080 OMIM: 100800 GeneReviews: Achondroplasia	not available
Camptodactyly-tall stature-scoliosis-hearing loss syndrome MedGen: C1864852 OMIM: 610474 GeneReviews: Not available	not available
Cervical cancer MedGen: C4048328 OMIM: 603956 GeneReviews: Not available	not available
Colorectal cancer MedGen: C0346629 OMIM: 114500 GeneReviews: Lynch Syndrome	not available
Crouzon syndrome-acanthosis nigricans syndrome MedGen: C2677099 OMIM: 612247 GeneReviews: FGFR Craniosynostosis Syndromes Overview	not available
Epidermal nevus MedGen: C0334082 OMIM: 162900 GeneReviews: PIK3CA-Related Overgrowth Spectrum	not available
Germ cell tumor of testis MedGen: C1336708 OMIM: 273300 GeneReviews: Not available	not available
Hypochondroplasia MedGen: C0410529 OMIM: 146000 GeneReviews: Hypochondroplasia	not available
Isolated coronal synostosis MedGen: CN043619 GeneReviews: FGFR Craniosynostosis Syndromes Overview	not available
Lacrimoauriculodentodigital syndrome 2 MedGen: C5774286 OMIM: 620192 GeneReviews: Not available	not available
Malignant tumor of urinary bladder MedGen: C0005684 OMIM: 109800 GeneReviews: Not available	not available
Muenke syndrome MedGen: C1864436 OMIM: 602849 GeneReviews: Muenke Syndrome, FGFR Craniosynostosis Syndromes Overview	not available
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome MedGen: C2674173 OMIM: 616482 GeneReviews: Not available	not available
Thanatophoric dysplasia type 1 MedGen: C1868678 OMIM: 187600 GeneReviews: Thanatophoric Dysplasia	not available
Thanatophoric dysplasia, type 2 MedGen: C1300257 OMIM: 187601 GeneReviews: Thanatophoric Dysplasia	not available

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2011-11-09) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2011-11-09) ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies multiple loci associated with bladder cancer risk. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:454672 (e-PCR)
- UniSTS:157443

GDB:454675 (e-PCR)
- UniSTS:157444

RH18137 (e-PCR)
- UniSTS:91412

G15851 (e-PCR)
- UniSTS:43116

GDB:187013 (e-PCR)
- UniSTS:155533

GDB:581559 (e-PCR)
- UniSTS:157858

GDB:681581 (e-PCR)
- UniSTS:158627

GDB:585477 (e-PCR)
- UniSTS:157890

WI-15208 (e-PCR)
- UniSTS:34762

FGFR3 (e-PCR)
- UniSTS:503521

Fgfr3 (e-PCR), detects polymorphism
- UniSTS:547829

Fgfr3 (e-PCR), detects polymorphism
- UniSTS:547830

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables GPI-linked ephrin receptor activity	IEA Inferred from Electronic Annotation more info
enables boss receptor activity	IEA Inferred from Electronic Annotation more info
enables brain-derived neurotrophic factor receptor activity	IEA Inferred from Electronic Annotation more info
enables epidermal growth factor receptor activity	IEA Inferred from Electronic Annotation more info
enables fibroblast growth factor binding	IBA Inferred from Biological aspect of Ancestor more info
enables fibroblast growth factor binding	IDA Inferred from Direct Assay more info	PubMed
enables fibroblast growth factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables fibroblast growth factor receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables fibroblast growth factor receptor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables hepatocyte growth factor receptor activity	IEA Inferred from Electronic Annotation more info
enables histone H2AXY142 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3Y41 kinase activity	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables insulin receptor activity	IEA Inferred from Electronic Annotation more info
enables insulin-like growth factor receptor activity	IEA Inferred from Electronic Annotation more info
enables macrophage colony-stimulating factor receptor activity	IEA Inferred from Electronic Annotation more info
enables placental growth factor receptor activity	IEA Inferred from Electronic Annotation more info
enables platelet-derived growth factor alpha-receptor activity	IEA Inferred from Electronic Annotation more info
enables platelet-derived growth factor beta-receptor activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein tyrosine kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein tyrosine kinase collagen receptor activity	IEA Inferred from Electronic Annotation more info
enables stem cell factor receptor activity	IEA Inferred from Electronic Annotation more info
enables transmembrane-ephrin receptor activity	IEA Inferred from Electronic Annotation more info
enables vascular endothelial growth factor receptor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in Kit signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in MAPK cascade	TAS Traceable Author Statement more info	PubMed
involved_in bone maturation	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in bone mineralization	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in bone morphogenesis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in bone morphogenesis	TAS Traceable Author Statement more info	PubMed
involved_in brain-derived neurotrophic factor receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in cell surface receptor protein tyrosine kinase signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell surface receptor signaling pathway via JAK-STAT	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell-cell signaling	IEA Inferred from Electronic Annotation more info
involved_in chondrocyte differentiation	TAS Traceable Author Statement more info	PubMed
involved_in chondrocyte proliferation	TAS Traceable Author Statement more info	PubMed
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
involved_in collagen-activated tyrosine kinase receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in endochondral bone growth	TAS Traceable Author Statement more info	PubMed
involved_in endochondral ossification	TAS Traceable Author Statement more info	PubMed
involved_in ephrin receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in epidermal growth factor receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in fibroblast growth factor receptor apoptotic signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in fibroblast growth factor receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within fibroblast growth factor receptor signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in hepatocyte growth factor receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in insulin receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in insulin-like growth factor receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in macrophage colony-stimulating factor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in multicellular organism development	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of developmental growth	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in platelet-derived growth factor receptor-alpha signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in platelet-derived growth factor receptor-beta signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of ERK1 and ERK2 cascade	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of MAPK cascade	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of MAPK cascade	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of cell population proliferation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of phospholipase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of tyrosine phosphorylation of STAT protein	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skeletal system development	TAS Traceable Author Statement more info	PubMed
involved_in vascular endothelial growth factor receptor-1 signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in vascular endothelial growth factor signaling pathway	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in cell surface	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
colocalizes_with focal adhesion	TAS Traceable Author Statement more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
part_of receptor complex	IBA Inferred from Biological aspect of Ancestor more info
located_in transport vesicle	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: fibroblast growth factor receptor 3

Names: FGFR-3; fibroblast growth factor receptor 3-S; hydroxyaryl-protein kinase; tyrosine kinase JTK4

NP_000133.1

EC 2.7.10.1

NP_001156685.1

EC 2.7.10.1

NP_001341738.1

EC 2.7.10.1

NP_001341739.1

EC 2.7.10.1

NP_075254.1

EC 2.7.10.1

XP_006713931.1

EC 2.7.10.1

XP_006713932.1

EC 2.7.10.1

XP_006713933.1

EC 2.7.10.1

XP_006713934.1

EC 2.7.10.1

XP_006713936.1

EC 2.7.10.1

XP_011511722.1

EC 2.7.10.1

XP_011511724.1

EC 2.7.10.1

XP_047305776.1

EC 2.7.10.1

XP_047305777.1

EC 2.7.10.1

XP_047305778.1

EC 2.7.10.1

XP_047305779.1

EC 2.7.10.1

XP_047305780.1

EC 2.7.10.1

XP_054205236.1

EC 2.7.10.1

XP_054205237.1

EC 2.7.10.1

XP_054205238.1

EC 2.7.10.1

XP_054205239.1

EC 2.7.10.1

XP_054205240.1

EC 2.7.10.1

XP_054205241.1

EC 2.7.10.1

XP_054205242.1

EC 2.7.10.1

XP_054205243.1

EC 2.7.10.1

NCBI Reference Sequences (RefSeq)

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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

NG_012632.1 RefSeqGene

Range

5001..20561

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1021

mRNA and Protein(s)

NM_000142.5 → NP_000133.1 fibroblast growth factor receptor 3 isoform 1 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (1) lacks an alternate coding exon and contains another alternate coding exon compared to variant 3. The resulting isoform (1) has the same N- and C-termini but is shorter compared to isoform 3.

Source sequence(s)

AC016773

Consensus CDS

CCDS3353.1

UniProtKB/Swiss-Prot

D3DVP9, D3DVQ0, P22607, Q14308, Q16294, Q16608, Q59FL9

UniProtKB/TrEMBL

A0A7I2RW32

Related

ENSP00000414914.2, ENST00000440486.8

Conserved Domains (7) summary

cd05857
Location:161 → 245

Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor

cd05858
Location:268 → 357

Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)

smart00408
Location:53 → 110

IGc2; Immunoglobulin C-2 Type

smart00409
Location:54 → 125

IG; Immunoglobulin

smart00410
Location:260 → 356

IG_like; Immunoglobulin like

pfam07714
Location:472 → 748

Pkinase_Tyr; Protein tyrosine kinase

cl21453
Location:459 → 792

PKc_like; Protein Kinases, catalytic domain
NM_001163213.2 → NP_001156685.1 fibroblast growth factor receptor 3 isoform 3 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (3), also known as isoform IIIb, encodes the longest isoform (3).

Source sequence(s)

AC016773

Consensus CDS

CCDS54706.1

UniProtKB/TrEMBL

Q8NI16

Related

ENSP00000339824.4, ENST00000340107.9

Conserved Domains (7) summary

cd04974
Location:268 → 356

Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)

cd05857
Location:161 → 245

Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor

smart00408
Location:53 → 110

IGc2; Immunoglobulin C-2 Type

smart00409
Location:54 → 125

IG; Immunoglobulin

smart00410
Location:260 → 355

IG_like; Immunoglobulin like

pfam07714
Location:474 → 750

Pkinase_Tyr; Protein tyrosine kinase

cl21453
Location:461 → 794

PKc_like; Protein Kinases, catalytic domain
NM_001354809.2 → NP_001341738.1 fibroblast growth factor receptor 3 isoform 4 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an alternate coding exon, contains another alternate coding exon, and uses an alternate in-frame splice junction compared to variant 3. The resulting isoform (4) has the same N- and C-termini but is shorter compared to isoform 3.

Source sequence(s)

AC016773

UniProtKB/TrEMBL

A0A7I2RW32, X5D2G8

Conserved Domains (4) summary

cd05857
Location:161 → 245

Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor

cd05858
Location:268 → 357

Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)

smart00408
Location:53 → 110

IGc2; Immunoglobulin C-2 Type

cl21453
Location:460 → 793

PKc_like; Protein Kinases, catalytic domain
NM_001354810.2 → NP_001341739.1 fibroblast growth factor receptor 3 isoform 5 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks two alternate coding exons, contains another alternate coding exon, and uses an alternate in-frame splice junction compared to variant 3. The resulting isoform (5) has multiple differences compared to isoform 3.

Source sequence(s)

AC016773

Consensus CDS

CCDS87200.1

UniProtKB/TrEMBL

A0A7I2RW32, F8W9L4

Related

ENSP00000420533.2, ENST00000481110.7

Conserved Domains (4) summary

cd05857
Location:161 → 245

Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor

cd05858
Location:268 → 357

Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)

smart00408
Location:53 → 110

IGc2; Immunoglobulin C-2 Type

cl21453
Location:460 → 654

PKc_like; Protein Kinases, catalytic domain
NM_022965.4 → NP_075254.1 fibroblast growth factor receptor 3 isoform 2 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks two alternate coding exons compared to variant 3. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 3.

Source sequence(s)

AC016773

Consensus CDS

CCDS3354.1

UniProtKB/TrEMBL

A0A7I2RW32

Related

ENSP00000231803.1, ENST00000352904.6

Conserved Domains (6) summary

cd04974
Location:268 → 357

Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)

cd05857
Location:161 → 245

Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor

smart00408
Location:53 → 110

IGc2; Immunoglobulin C-2 Type

smart00409
Location:260 → 289

IG; Immunoglobulin

pfam07714
Location:360 → 636

Pkinase_Tyr; Protein tyrosine kinase

cl21453
Location:347 → 680

PKc_like; Protein Kinases, catalytic domain

RNA

NR_148971.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (6) contains an alternate exon compared to variant 3. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC016773

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

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

1793293..1808867

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006713868.2 → XP_006713931.1 fibroblast growth factor receptor 3 isoform X1

UniProtKB/TrEMBL

Q8NI16

Conserved Domains (7) summary

cd04974
Location:268 → 356

Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)

cd05857
Location:161 → 245

Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor

smart00408
Location:53 → 110

IGc2; Immunoglobulin C-2 Type

smart00409
Location:54 → 125

IG; Immunoglobulin

smart00410
Location:260 → 355

IG_like; Immunoglobulin like

pfam07714
Location:476 → 752

Pkinase_Tyr; Protein tyrosine kinase

cl21453
Location:463 → 797

PKc_like; Protein Kinases, catalytic domain
XM_006713869.2 → XP_006713932.1 fibroblast growth factor receptor 3 isoform X3

UniProtKB/TrEMBL

Q8NI16

Conserved Domains (7) summary

cd04974
Location:268 → 356

Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)

cd05857
Location:161 → 245

Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor

smart00408
Location:53 → 110

IGc2; Immunoglobulin C-2 Type

smart00409
Location:54 → 125

IG; Immunoglobulin

smart00410
Location:260 → 355

IG_like; Immunoglobulin like

pfam07714
Location:476 → 752

Pkinase_Tyr; Protein tyrosine kinase

cl21453
Location:463 → 796

PKc_like; Protein Kinases, catalytic domain
XM_006713870.2 → XP_006713933.1 fibroblast growth factor receptor 3 isoform X2

UniProtKB/TrEMBL

Q8NI16

Conserved Domains (7) summary

cd04974
Location:268 → 356

Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)

cd05857
Location:161 → 245

Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor

smart00408
Location:53 → 110

IGc2; Immunoglobulin C-2 Type

smart00409
Location:54 → 125

IG; Immunoglobulin

smart00410
Location:260 → 355

IG_like; Immunoglobulin like

pfam07714
Location:475 → 751

Pkinase_Tyr; Protein tyrosine kinase

cl21453
Location:462 → 796

PKc_like; Protein Kinases, catalytic domain
XM_047449821.1 → XP_047305777.1 fibroblast growth factor receptor 3 isoform X4
XM_006713871.2 → XP_006713934.1 fibroblast growth factor receptor 3 isoform X5

UniProtKB/TrEMBL

Q8NI16

Conserved Domains (7) summary

cd04974
Location:268 → 356

Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)

cd05857
Location:161 → 245

Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor

smart00408
Location:53 → 110

IGc2; Immunoglobulin C-2 Type

smart00409
Location:54 → 125

IG; Immunoglobulin

smart00410
Location:260 → 355

IG_like; Immunoglobulin like

pfam07714
Location:474 → 750

Pkinase_Tyr; Protein tyrosine kinase

cl21453
Location:461 → 795

PKc_like; Protein Kinases, catalytic domain
XM_011513420.2 → XP_011511722.1 fibroblast growth factor receptor 3 isoform X6

UniProtKB/TrEMBL

A0A7I2RW32

Conserved Domains (7) summary

cd05857
Location:161 → 245

Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor

cd05858
Location:268 → 357

Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)

smart00408
Location:53 → 110

IGc2; Immunoglobulin C-2 Type

smart00409
Location:54 → 125

IG; Immunoglobulin

smart00410
Location:260 → 356

IG_like; Immunoglobulin like

pfam07714
Location:474 → 750

Pkinase_Tyr; Protein tyrosine kinase

cl21453
Location:461 → 795

PKc_like; Protein Kinases, catalytic domain
XM_011513422.2 → XP_011511724.1 fibroblast growth factor receptor 3 isoform X7

UniProtKB/TrEMBL

A0A7I2RW32

Conserved Domains (7) summary

cd05857
Location:161 → 245

Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor

cd05858
Location:268 → 357

Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)

smart00408
Location:53 → 110

IGc2; Immunoglobulin C-2 Type

smart00409
Location:54 → 125

IG; Immunoglobulin

smart00410
Location:260 → 356

IG_like; Immunoglobulin like

pfam07714
Location:473 → 749

Pkinase_Tyr; Protein tyrosine kinase

cl21453
Location:460 → 794

PKc_like; Protein Kinases, catalytic domain
XM_006713873.2 → XP_006713936.1 fibroblast growth factor receptor 3 isoform X9

UniProtKB/TrEMBL

A0A7I2RW32

Conserved Domains (7) summary

cd05857
Location:161 → 245

Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor

cd05858
Location:268 → 357

Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)

smart00408
Location:53 → 110

IGc2; Immunoglobulin C-2 Type

smart00409
Location:54 → 125

IG; Immunoglobulin

smart00410
Location:260 → 356

IG_like; Immunoglobulin like

pfam07714
Location:472 → 748

Pkinase_Tyr; Protein tyrosine kinase

cl21453
Location:459 → 793

PKc_like; Protein Kinases, catalytic domain
XM_047449820.1 → XP_047305776.1 fibroblast growth factor receptor 3 isoform X1
XM_047449822.1 → XP_047305778.1 fibroblast growth factor receptor 3 isoform X8

UniProtKB/TrEMBL

X5D2G8
XM_047449823.1 → XP_047305779.1 fibroblast growth factor receptor 3 isoform X9
XM_047449824.1 → XP_047305780.1 fibroblast growth factor receptor 3 isoform X10

UniProtKB/Swiss-Prot

D3DVP9, D3DVQ0, P22607, Q14308, Q16294, Q16608, Q59FL9