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

Gene ID: 2264, updated on 2-Mar-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
109.20210226 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
ATP binding IEA
Inferred from Electronic Annotation
more info
 
fibroblast growth factor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
fibroblast growth factor binding IDA
Inferred from Direct Assay
more info
PubMed 
fibroblast growth factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
fibroblast growth factor-activated receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
fibroblast growth factor-activated receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
fibroblast growth factor-activated receptor activity IGI
Inferred from Genetic Interaction
more info
PubMed 
heparin binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transmembrane receptor protein tyrosine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
MAPK cascade TAS
Traceable Author Statement
more info
 
cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
cholesterol homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
fibroblast growth factor receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
fibroblast growth factor receptor signaling pathway IGI
Inferred from Genetic Interaction
more info
PubMed 
fibroblast growth factor receptor signaling pathway IPI
Inferred from Physical Interaction
more info
PubMed 
fibroblast growth factor receptor signaling pathway TAS
Traceable Author Statement
more info
 
glucose homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
multicellular organism development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peptidyl-tyrosine phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
phosphate ion homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of DNA biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of ERK1 and ERK2 cascade IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of ERK1 and ERK2 cascade IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of catalytic activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cell population proliferation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cell population proliferation IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of protein kinase B signaling TAS
Traceable Author Statement
more info
 
positive regulation of proteolysis IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein autophosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
regulation of bile acid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of bile acid biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of extracellular matrix disassembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of lipid metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
NOT response to bile acid IMP
Inferred from Mutant Phenotype
more info
PubMed 
transmembrane receptor protein tyrosine kinase signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with cell-cell junction IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endosome IEA
Inferred from Electronic Annotation
more info
 
extracellular region IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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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_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 109.20210226

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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