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    FGD4 FYVE, RhoGEF and PH domain containing 4 [ Homo sapiens (human) ]

    Gene ID: 121512, updated on 10-Dec-2024

    Summary

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    Official Symbol
    FGD4provided by HGNC
    Official Full Name
    FYVE, RhoGEF and PH domain containing 4provided by HGNC
    Primary source
    HGNC:HGNC:19125
    See related
    Ensembl:ENSG00000139132 MIM:611104; AllianceGenome:HGNC:19125
    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
    CMT4H; FRABP; ZFYVE6
    Summary
    This gene encodes a protein that is involved in the regulation of the actin cytoskeleton and cell shape. This protein contains an actin filament-binding domain, which together with its Dbl homology domain and one of its pleckstrin homology domains, can form microspikes. This protein can activate MAPK8 independently of the actin filament-binding domain, and it is also involved in the activation of CDC42 via the exchange of bound GDP for free GTP. The activation of CDC42 also enables this protein to play a role in mediating the cellular invasion of Cryptosporidium parvum, an intracellular parasite that infects the gastrointestinal tract. Mutations in this gene can cause Charcot-Marie-Tooth disease type 4H (CMT4H), a disorder of the peripheral nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]
    Expression
    Ubiquitous expression in ovary (RPKM 8.0), stomach (RPKM 6.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FGD4 in Genome Data Viewer
    Location:
    12p11.21
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (32399558..32646050)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (32275797..32522311)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (32552492..32798984)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4335 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6181 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:32260751-32261388 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:32271849-32272465 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:32273271-32273980 Neighboring gene BICD1 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:32284941-32285442 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6182 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6183 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6184 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6185 Neighboring gene NANOG hESC enhancer GRCh37_chr12:32308728-32309229 Neighboring gene BICD cargo adaptor 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:32326137-32326651 Neighboring gene WW domain binding protein 2 pseudogene Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:32401528-32402727 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6186 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6187 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6188 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6189 Neighboring gene MPRA-validated peak1664 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr12:32451501-32451672 Neighboring gene MPRA-validated peak1665 silencer Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:32552038-32552978 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_28311 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:32552979-32553918 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:32553919-32554859 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:32554860-32555799 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:32558711-32559696 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:32563517-32564117 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:32572153-32573139 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:32590359-32590858 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:32597499-32598044 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:32606043-32606832 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4338 Neighboring gene RNA, U6 small nuclear 494, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:32676322-32676822 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:32715914-32716598 Neighboring gene NANOG hESC enhancer GRCh37_chr12:32719564-32720065 Neighboring gene uncharacterized LOC124902914 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:32827128-32828327 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4339 Neighboring gene nucleosome assembly protein 1 like 1 pseudogene Neighboring gene dynamin 1 like

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Charcot-Marie-Tooth Neuropathy Type 4H – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. Adam MP, et al. , 1993. PMID 23926620
    2. Charcot-Marie-Tooth Disease Type 4H Resulting from Compound Heterozygous Mutations in FGD4 from Nonconsanguineous Korean Families. Hyun YS, et al. Ann Hum Genet, 2015 Nov. PMID 26400421
    3. A novel mutation in FGD4/FRABIN causes Charcot Marie Tooth disease type 4H in patients from a consanguineous Tunisian family. Boubaker C, et al. Ann Hum Genet, 2013 Jul. PMID 23550889
    4. Polymorphism of FGD4 and myelosuppression in patients with esophageal squamous cell carcinoma. Yang Y, et al. Future Oncol, 2021 Jun. PMID 33709789
    5. Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11. De Sandre-Giovannoli A, et al. J Med Genet, 2005 Mar. PMID 15744041, Free PMC Article

    See all (46) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Polymorphism of FGD4 and myelosuppression in patients with esophageal squamous cell carcinoma.
      Title: Polymorphism of FGD4 and myelosuppression in patients with esophageal squamous cell carcinoma.
    2. MiR-23a induced the activation of CDC42/PAK1 pathway and cell cycle arrest in human cov434 cells by targeting FGD4.
      Title: MiR-23a induced the activation of CDC42/PAK1 pathway and cell cycle arrest in human cov434 cells by targeting FGD4.
    3. Circular RNA circFGD4 suppresses gastric cancer progression via modulating miR-532-3p/APC/beta-catenin signalling pathway.
      Title: Circular RNA circFGD4 suppresses gastric cancer progression via modulating miR-532-3p/APC/β-catenin signalling pathway.
    4. Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease.
      Title: Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease.
    5. Results show that the expression of FGD4 is upregulated in cancerous prostates compared to the luminal cells in benign prostatic hyperplasia and demonstrate a tumor promoting and a cell migratory function of FGD4 in prostate cancer cells. Its inhibition enhances the response for both androgen-dependent and independent prostate cancer cells towards currently used prostate cancer drugs.
      Title: Expression of FGD4 positively correlates with the aggressive phenotype of prostate cancer.
    6. FGD4 c.2044-236 A-allele carriers had an increased risk of paclitaxel dose reduction (HR per A-allele=1.38, P=0.036) when adjusted for total cumulative paclitaxel dose
      Title: Genotypes of CYP2C8 and FGD4 and their association with peripheral neuropathy or early dose reduction in paclitaxel-treated breast cancer patients.
    7. identified two different pairs of novel compound heterozygous mutations in the FGD4 gene from nonconsanguineous Korean Charcot-Marie-Tooth disease type 4H families
      Title: Charcot-Marie-Tooth Disease Type 4H Resulting from Compound Heterozygous Mutations in FGD4 from Nonconsanguineous Korean Families.
    8. Our results suggest that FGD4 should be screened in other early-onset CMT subtypes, regardless of the severity of the phenotype, and particularly in patients of consanguineous descent.
      Title: A novel mutation in FGD4/FRABIN causes Charcot Marie Tooth disease type 4H in patients from a consanguineous Tunisian family.
    9. A single nucleotide polymorphism in FGD4 was associated with the onset of paclitaxel-induced sensory peripheral neuropathy.
      Title: A genome-wide association study identifies novel loci for paclitaxel-induced sensory peripheral neuropathy in CALGB 40101.
    10. LMP1, through its transmembrane domains, directly bound FGD4 and enhanced FGD4 activity toward Cdc42, leading to actin cytoskeleton rearrangement and increased motility of NPC cells.
      Title: Epstein-Barr virus-encoded LMP1 interacts with FGD4 to activate Cdc42 and thereby promote migration of nasopharyngeal carcinoma cells.
    Submit: New GeneRIF Correction See all GeneRIFs (19)

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ34370, FLJ42663, MGC57222, DKFZp313E1818, DKFZp434K1572

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables guanyl-nucleotide exchange factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables guanyl-nucleotide exchange factor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables guanyl-nucleotide exchange factor activity TAS
    Traceable Author Statement
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables small GTPase binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in actin cytoskeleton organization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cytoskeleton organization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in filopodium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in filopodium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of GTPase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of cell shape ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of small GTPase mediated signal transduction TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in filopodium IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in lamellipodium ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in ruffle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    FYVE, RhoGEF and PH domain-containing protein 4
    Names
    FGD1 family, member 4
    FGD1-related F-actin-binding protein
    actin-filament binding protein frabin
    zinc finger FYVE domain-containing protein 6

    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

    1. NG_008626.2 RefSeqGene

      Range
      91444..251522
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_240

    mRNA and Protein(s)

    1. NM_001304481.2 → NP_001291410.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform 2

      See identical proteins and their annotated locations for NP_001291410.1

      Status: REVIEWED

      Source sequence(s)
      AC084824, AC090440, AC090677
      Consensus CDS
      CCDS76544.1
      UniProtKB/TrEMBL
      B7Z493, E9PJX4
      Related
      ENSP00000431323.1, ENST00000531134.7
      Conserved Domains (4) summary
      cd00160
      Location:292 → 476
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd13236
      Location:722 → 824
      PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus
      cd15791
      Location:508 → 601
      PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain
      cd15741
      Location:639 → 703
      FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4

    2. NM_001304483.2 → NP_001291412.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform 4

      See identical proteins and their annotated locations for NP_001291412.1

      Status: REVIEWED

      Source sequence(s)
      AC090440, AL832064, BC045552, BC096746, BI756188
      UniProtKB/TrEMBL
      Q49A55
      Conserved Domains (4) summary
      cd15791
      Location:175 → 268
      PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain
      cd15741
      Location:306 → 370
      FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4
      pfam00621
      Location:2 → 143
      RhoGEF; RhoGEF domain
      cl17171
      Location:389 → 440
      PH-like; Pleckstrin homology-like domain

    3. NM_001304484.2 → NP_001291413.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC084824, AC090440, AK303334, AL832064, BC096746
      UniProtKB/TrEMBL
      A0A804HK93
      Related
      ENSP00000507831.1, ENST00000683182.1
      Conserved Domains (5) summary
      cd13236
      Location:293 → 395
      PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus
      cd15791
      Location:79 → 172
      PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain
      cd15741
      Location:210 → 274
      FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4
      pfam00169
      Location:79 → 176
      PH; PH domain
      cl02571
      Location:1 → 47
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.

    4. NM_001330373.2 → NP_001317302.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC084824, AC090440, AK057294, AL832064, BC039708, BC096746, BI752085
      Consensus CDS
      CCDS81679.1
      UniProtKB/TrEMBL
      A0A2X0U2J9, F8W1R0
      Related
      ENSP00000446695.1, ENST00000546442.5
      Conserved Domains (4) summary
      cd00160
      Location:114 → 298
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd13236
      Location:544 → 646
      PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus
      cd15791
      Location:330 → 423
      PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain
      cd15741
      Location:461 → 525
      FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4

    5. NM_001330374.2 → NP_001317303.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC084824, AC090440, AK057294, AK297025, AL832064, BC039708, BC096746, BI752085
      Consensus CDS
      CCDS81679.1
      UniProtKB/TrEMBL
      A0A2X0U2J9, F8W1R0
      Conserved Domains (4) summary
      cd00160
      Location:114 → 298
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd13236
      Location:544 → 646
      PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus
      cd15791
      Location:330 → 423
      PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain
      cd15741
      Location:461 → 525
      FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4

    6. NM_001370297.1 → NP_001357226.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC084824, AC090440, AC090677
      Conserved Domains (4) summary
      cd00160
      Location:23 → 207
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd13236
      Location:453 → 555
      PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus
      cd15791
      Location:239 → 332
      PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain
      cd15741
      Location:370 → 434
      FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4

    7. NM_001370298.3 → NP_001357227.2  FYVE, RhoGEF and PH domain-containing protein 4 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC084824, AC087245, AC090440
      Consensus CDS
      CCDS91680.1
      UniProtKB/TrEMBL
      E9PJX4, F8VWL3
      Related
      ENSP00000449273.1, ENST00000534526.7
      Conserved Domains (4) summary
      cd00160
      Location:344 → 528
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd13236
      Location:774 → 876
      PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus
      cd15791
      Location:560 → 653
      PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain
      cd15741
      Location:691 → 755
      FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4

    8. NM_001384126.1 → NP_001371055.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AC084824, AC087245, AC090440
      UniProtKB/TrEMBL
      E9PJX4
      Conserved Domains (4) summary
      cd00160
      Location:344 → 528
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd13236
      Location:774 → 876
      PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus
      cd15791
      Location:560 → 653
      PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain
      cd15741
      Location:691 → 755
      FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4

    9. NM_001384127.1 → NP_001371056.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform 10

      Status: REVIEWED

      Source sequence(s)
      AC084824, AC090440, AC090677
      UniProtKB/TrEMBL
      A0A2X0U2J9
      Conserved Domains (4) summary
      cd00160
      Location:207 → 391
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd13236
      Location:637 → 739
      PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus
      cd15791
      Location:423 → 516
      PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain
      cd15741
      Location:554 → 618
      FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4

    10. NM_001384128.1 → NP_001371057.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform 10

      Status: REVIEWED

      Source sequence(s)
      AC084824, AC090440
      UniProtKB/TrEMBL
      A0A2X0U2J9
      Conserved Domains (4) summary
      cd00160
      Location:207 → 391
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd13236
      Location:637 → 739
      PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus
      cd15791
      Location:423 → 516
      PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain
      cd15741
      Location:554 → 618
      FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4

    11. NM_001384130.1 → NP_001371059.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC084824, AC090440
      Consensus CDS
      CCDS81679.1
      UniProtKB/TrEMBL
      A0A2X0U2J9, F8W1R0
      Conserved Domains (4) summary
      cd00160
      Location:114 → 298
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd13236
      Location:544 → 646
      PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus
      cd15791
      Location:330 → 423
      PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain
      cd15741
      Location:461 → 525
      FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4

    12. NM_001384131.1 → NP_001371060.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform 11

      Status: REVIEWED

      Source sequence(s)
      AC090440, AC090677
      Consensus CDS
      CCDS91681.1
      UniProtKB/TrEMBL
      E9PNX0, E9PQT1
      Related
      ENSP00000434356.1, ENST00000472289.5

    13. NM_001384132.1 → NP_001371061.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform 11

      Status: REVIEWED

      Source sequence(s)
      AC090440
      Consensus CDS
      CCDS91681.1
      UniProtKB/TrEMBL
      E9PNX0, E9PQT1

    14. NM_001385118.1 → NP_001372047.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC084824, AC090440
      Consensus CDS
      CCDS8727.1
      UniProtKB/Swiss-Prot
      Q6ULS2, Q8TCP6, Q96M96
      UniProtKB/TrEMBL
      A0A2X0U2J9
      Related
      ENSP00000433666.2, ENST00000525053.6
      Conserved Domains (4) summary
      cd00160
      Location:207 → 391
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd13236
      Location:637 → 739
      PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus
      cd15791
      Location:423 → 516
      PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain
      cd15741
      Location:554 → 618
      FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4

    15. NM_139241.3 → NP_640334.2  FYVE, RhoGEF and PH domain-containing protein 4 isoform 3

      See identical proteins and their annotated locations for NP_640334.2

      Status: REVIEWED

      Source sequence(s)
      AC084824, AC090440, AK057294, AL832064, BC039708, BC096746
      Consensus CDS
      CCDS8727.1
      UniProtKB/Swiss-Prot
      Q6ULS2, Q8TCP6, Q96M96
      UniProtKB/TrEMBL
      A0A2X0U2J9
      Related
      ENSP00000462623.2, ENST00000583694.2
      Conserved Domains (4) summary
      cd00160
      Location:207 → 391
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd13236
      Location:637 → 739
      PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus
      cd15791
      Location:423 → 516
      PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain
      cd15741
      Location:554 → 618
      FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4

    RNA

    1. NR_168884.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC090440, AC090677
      Related
      ENST00000494275.5

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      32399558..32646050
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047428291.1 → XP_047284247.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform X1

      UniProtKB/TrEMBL
      E9PJX4

    2. XM_047428292.1 → XP_047284248.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform X2

      UniProtKB/TrEMBL
      E9PJX4

    3. XM_047428297.1 → XP_047284253.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform X5

    4. XM_047428293.1 → XP_047284249.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform X3

      UniProtKB/Swiss-Prot
      Q6ULS2, Q8TCP6, Q96M96
      UniProtKB/TrEMBL
      A0A2X0U2J9

    5. XM_047428295.1 → XP_047284251.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform X4

      UniProtKB/TrEMBL
      A0A2X0U2J9, F8W1R0
      Related
      ENSP00000507616.1, ENST00000682739.1

    6. XM_047428296.1 → XP_047284252.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform X4

      UniProtKB/TrEMBL
      A0A2X0U2J9, F8W1R0

    7. XM_047428294.1 → XP_047284250.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform X4

      UniProtKB/TrEMBL
      A0A2X0U2J9, F8W1R0

    8. XM_011520558.3 → XP_011518860.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform X6

      Conserved Domains (5) summary
      cd13236
      Location:438 → 540
      PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus
      cd15791
      Location:224 → 317
      PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain
      cd15741
      Location:355 → 419
      FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4
      pfam00169
      Location:224 → 321
      PH; PH domain
      pfam00621
      Location:11 → 192
      RhoGEF; RhoGEF domain

    9. XM_011520559.4 → XP_011518861.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform X8

      UniProtKB/TrEMBL
      Q49A55
      Conserved Domains (5) summary
      cd13236
      Location:382 → 484
      PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus
      cd15791
      Location:168 → 261
      PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain
      cd15741
      Location:299 → 363
      FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4
      pfam00169
      Location:168 → 265
      PH; PH domain
      pfam00621
      Location:21 → 136
      RhoGEF; RhoGEF domain

    10. XM_005253310.5 → XP_005253367.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform X7

      UniProtKB/TrEMBL
      Q49A55
      Conserved Domains (4) summary
      cd13236
      Location:389 → 491
      PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus
      cd15791
      Location:175 → 268
      PH1_FDG4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins 4, N-terminal Pleckstrin homology (PH) domain
      cd15741
      Location:306 → 370
      FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4
      pfam00621
      Location:2 → 143
      RhoGEF; RhoGEF domain

    RNA

    1. XR_001748576.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      32275797..32522311
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371087.1 → XP_054227062.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform X1

      UniProtKB/TrEMBL
      E9PJX4

    2. XM_054371088.1 → XP_054227063.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform X2

      UniProtKB/TrEMBL
      E9PJX4

    3. XM_054371089.1 → XP_054227064.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform X3

      UniProtKB/Swiss-Prot
      Q6ULS2, Q8TCP6, Q96M96
      UniProtKB/TrEMBL
      A0A2X0U2J9

    4. XM_054371091.1 → XP_054227066.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform X4

      UniProtKB/TrEMBL
      A0A2X0U2J9, F8W1R0

    5. XM_054371092.1 → XP_054227067.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform X4

      UniProtKB/TrEMBL
      A0A2X0U2J9, F8W1R0

    6. XM_054371090.1 → XP_054227065.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform X4

      UniProtKB/TrEMBL
      A0A2X0U2J9, F8W1R0

    7. XM_054371093.1 → XP_054227068.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform X6

    8. XM_054371095.1 → XP_054227070.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform X8

      UniProtKB/TrEMBL
      Q49A55

    9. XM_054371094.1 → XP_054227069.1  FYVE, RhoGEF and PH domain-containing protein 4 isoform X7

      UniProtKB/TrEMBL
      Q49A55

    RNA

    1. XR_008488531.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001304480.1: Suppressed sequence

      Description
      NM_001304480.1: This RefSeq was removed because currently there is support for the transcript but not for the protein N-terminus.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96M96.2 GenPept UniProtKB/Swiss-Prot:Q96M96

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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