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    FGFR4 fibroblast growth factor receptor 4 [ Homo sapiens (human) ]

    Gene ID: 2264, updated on 16-Aug-2021

    Summary

    Official Symbol
    FGFR4provided by HGNC
    Official Full Name
    fibroblast growth factor receptor 4provided by HGNC
    Primary source
    HGNC:HGNC:3691
    See related
    Ensembl:ENSG00000160867 MIM:134935
    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
    TKF; JTK2; CD334
    Summary
    The protein encoded by this gene is a tyrosine kinase and cell surface receptor for fibroblast growth factors. The encoded protein is involved in the regulation of several pathways, including cell proliferation, cell differentiation, cell migration, lipid metabolism, bile acid biosynthesis, vitamin D metabolism, glucose uptake, and phosphate homeostasis. This 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 interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. [provided by RefSeq, Aug 2017]
    Expression
    Broad expression in lung (RPKM 16.7), kidney (RPKM 12.5) and 15 other tissues See more
    Orthologs
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    Genomic context

    See FGFR4 in Genome Data Viewer
    Location:
    5q35.2
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (177086915..177098144)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (176513916..176525145)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ubiquitin interaction motif containing 1 Neighboring gene zinc finger protein 346 Neighboring gene FGFR4 5' regulatory region Neighboring gene nuclear receptor binding SET domain protein 1 Neighboring gene ribosomal protein L21 pseudogene 60 Neighboring gene protein arginine methyltransferase 1 pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.
    GeneReviews: Not available
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    GeneReviews: Not available

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC20292

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables fibroblast growth factor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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-activated receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables fibroblast growth factor-activated receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables fibroblast growth factor-activated receptor activity IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    enables heparin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transmembrane receptor protein tyrosine kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cholesterol homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    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 
    acts_upstream_of_or_within fibroblast growth factor receptor signaling pathway IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    involved_in glucose homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in multicellular organism development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in peptidyl-tyrosine phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in phosphate ion homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of DNA biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of ERK1 and ERK2 cascade IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in positive regulation of ERK1 and ERK2 cascade IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of catalytic activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cell population proliferation IDA
    Inferred from Direct Assay
    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 gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in positive regulation of proteolysis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein autophosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of bile acid biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of bile acid biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of extracellular matrix disassembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of lipid metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    NOT involved_in response to bile acid IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in transmembrane receptor protein tyrosine kinase signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with cell-cell junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in integral component of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in integral component of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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
    PubMed 
    located_in transport vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    fibroblast growth factor receptor 4
    Names
    hydroxyaryl-protein kinase
    protein-tyrosine kinase
    tyrosine kinase related to fibroblast growth factor receptor
    tyrosylprotein kinase
    NP_001278909.1
    NP_001341913.1
    NP_002002.3
    NP_075252.2
    NP_998812.1

    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_012067.1 RefSeqGene

      Range
      4996..16225
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001291980.2NP_001278909.1  fibroblast growth factor receptor 4 isoform 3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has two alternate splice sites in the coding region, compared to variant 1. The resulting isoform (3) has a distinct and shorter internal segment, compared to isoform 1.
      Source sequence(s)
      AC027314, AK225909, AK301169, BC011847
      Consensus CDS
      CCDS78096.1
      UniProtKB/Swiss-Prot
      P22455
      UniProtKB/TrEMBL
      B4DVP5, J3KPQ0
      Related
      ENSP00000377259.2, ENST00000393648.6
      Conserved Domains (6) summary
      cd05858
      Location:264351
      Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
      smart00408
      Location:50107
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:162241
      IG_like; Immunoglobulin like
      pfam07714
      Location:399675
      Pkinase_Tyr; Protein tyrosine kinase
      cl11960
      Location:157241
      Ig; Immunoglobulin domain
      cl21453
      Location:399699
      PKc_like; Protein Kinases, catalytic domain
    2. NM_001354984.2NP_001341913.1  fibroblast growth factor receptor 4 isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Variants 1, 3, and 5 all encode the same isoform (1).
      Source sequence(s)
      AC027314
      Consensus CDS
      CCDS4410.1
      Conserved Domains (4) summary
      cd05858
      Location:264351
      Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
      smart00408
      Location:50107
      IGc2; Immunoglobulin C-2 Type
      cl11960
      Location:157241
      Ig; Immunoglobulin domain
      cl21453
      Location:454767
      PKc_like; Protein Kinases, catalytic domain
    3. NM_002011.5NP_002002.3  fibroblast growth factor receptor 4 isoform 1 precursor

      See identical proteins and their annotated locations for NP_002002.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1), which contains a transmembrane domain, suggesting a membrane bound receptor. Variants 1, 3, and 5 all encode the same isoform (1).
      Source sequence(s)
      AC027314, AK225909, BC011847
      Consensus CDS
      CCDS4410.1
      UniProtKB/Swiss-Prot
      P22455
      Related
      ENSP00000424960.1, ENST00000502906.5
      Conserved Domains (4) summary
      cd05858
      Location:264351
      Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
      smart00408
      Location:50107
      IGc2; Immunoglobulin C-2 Type
      cl11960
      Location:157241
      Ig; Immunoglobulin domain
      cl21453
      Location:454767
      PKc_like; Protein Kinases, catalytic domain
    4. NM_022963.3NP_075252.2  fibroblast growth factor receptor 4 isoform 2 precursor

      See identical proteins and their annotated locations for NP_075252.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an internal exon but has an alternate segment in the central coding region, compared to variant 1. The resulting isoform (2) has a distinct and shorter internal segment, compared to isoform 1, and it is missing the transmembrane region, suggesting a soluble rather than membrane-bound receptor.
      Source sequence(s)
      AF202063, AK225909, BC011847
      Consensus CDS
      CCDS4411.1
      UniProtKB/Swiss-Prot
      P22455
      Related
      ENSP00000377254.1, ENST00000393637.5
      Conserved Domains (6) summary
      cd05858
      Location:264351
      Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
      smart00408
      Location:50107
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:162241
      IG_like; Immunoglobulin like
      pfam07714
      Location:427703
      Pkinase_Tyr; Protein tyrosine kinase
      cl11960
      Location:157241
      Ig; Immunoglobulin domain
      cl21453
      Location:414727
      PKc_like; Protein Kinases, catalytic domain
    5. NM_213647.3NP_998812.1  fibroblast growth factor receptor 4 isoform 1 precursor

      See identical proteins and their annotated locations for NP_998812.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternative splice site for the first exon compared to variant 1. Variants 1, 3 and 5 all encode the same isoform (1).
      Source sequence(s)
      AC027314, AK225909, BC011847
      Consensus CDS
      CCDS4410.1
      UniProtKB/Swiss-Prot
      P22455
      Related
      ENSP00000292408.4, ENST00000292408.9
      Conserved Domains (4) summary
      cd05858
      Location:264351
      Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
      smart00408
      Location:50107
      IGc2; Immunoglobulin C-2 Type
      cl11960
      Location:157241
      Ig; Immunoglobulin domain
      cl21453
      Location:454767
      PKc_like; Protein Kinases, catalytic domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

      Range
      177086915..177098144
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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