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

Gene ID: 2264, updated on 2-Nov-2024

Summary

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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; AllianceGenome:HGNC:3691
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

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See FGFR4 in Genome Data Viewer
Location:
5q35.2
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (177086915..177098144)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (177630123..177641352)
RS_2024_09 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 uncharacterized LOC124901145 Neighboring gene MPRA-validated peak5592 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16666 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16667 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16668 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:176449401-176449938 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:176449939-176450475 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16670 Neighboring gene zinc finger protein 346 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:176488686-176489885 Neighboring gene FGFR4 5' regulatory region Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:176537235-176537734 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23693 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:176558105-176558658 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr5:176559765-176560316 and GRCh37_chr5:176560317-176560870 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:176560871-176561422 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:176561423-176561976 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16676 Neighboring gene nuclear receptor binding SET domain protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:176692158-176693050 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:176693051-176693942 Neighboring gene ribosomal protein L21 pseudogene 60 Neighboring gene protein arginine methyltransferase 1 pseudogene 1

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 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. Proximity Labeling Reveals Molecular Determinants of FGFR4 Endosomal Transport. Haugsten EM, et al. J Proteome Res, 2016 Oct 7. PMID 27615514
  2. Overexpression of fibroblast growth factor receptor 4 in high-grade pancreatic intraepithelial neoplasia and pancreatic ductal adenocarcinoma. Motoda N, et al. Int J Oncol, 2011 Jan. PMID 21109934
  3. Fibroblast growth factor receptor 4 protein expression and clinicopathological features in gastric cancer. Chen H, et al. World J Gastroenterol, 2015 Feb 14. PMID 25684949, Free PMC Article
  4. Gly388Arg FGFR4 Polymorphism Is Not Predictive of Everolimus Efficacy in Well-Differentiated Digestive Neuroendocrine Tumors. Cros J, et al. Neuroendocrinology, 2016. PMID 26335532
  5. Influence of the fibroblast growth factor receptor 4 expression and the G388R functional polymorphism on Cushing's disease outcome. Brito LP, et al. J Clin Endocrinol Metab, 2010 Oct. PMID 20660043

See all (263) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Oncofetal SNRPE promotes HCC tumorigenesis by regulating the FGFR4 expression through alternative splicing.
    Title: Oncofetal SNRPE promotes HCC tumorigenesis by regulating the FGFR4 expression through alternative splicing.
  2. The leukemia inhibitory factor regulates fibroblast growth factor receptor 4 transcription in gastric cancer.
    Title: The leukemia inhibitory factor regulates fibroblast growth factor receptor 4 transcription in gastric cancer.
  3. The RNA methyltransferase METTL16 enhances cholangiocarcinoma growth through PRDM15-mediated FGFR4 expression.
    Title: The RNA methyltransferase METTL16 enhances cholangiocarcinoma growth through PRDM15-mediated FGFR4 expression.
  4. FGF19-mediated ELF4 overexpression promotes colorectal cancer metastasis through transactivating FGFR4 and SRC.
    Title: FGF19-mediated ELF4 overexpression promotes colorectal cancer metastasis through transactivating FGFR4 and SRC.
  5. FGFR1-4 RNA-Based Gene Alteration and Expression Analysis in Squamous Non-Small Cell Lung Cancer.
    Title: FGFR1-4 RNA-Based Gene Alteration and Expression Analysis in Squamous Non-Small Cell Lung Cancer.
  6. Induction of Fibroblast Growth Factor Receptor 4 by Helicobacter pylori via Signal Transducer and Activator of Transcription 3 With a Feedforward Activation Loop Involving Steroid Receptor Coactivator Signaling in Gastric Cancer.
    Title: Induction of Fibroblast Growth Factor Receptor 4 by Helicobacter pylori via Signal Transducer and Activator of Transcription 3 With a Feedforward Activation Loop Involving SRC Signaling in Gastric Cancer.
  7. IMPACT OF FGFR4 (GLY388ARG) GENE POLYMORPHISM ALONG WITH VISFATIN CYTOKINE AND HIGH MOBILITY GROUP BOX-1 (HMGB1) ON ACUTE CHOLECYSTITIS.
    Title: IMPACT OF FGFR4 (GLY388ARG) GENE POLYMORPHISM ALONG WITH VISFATIN CYTOKINE AND HIGH MOBILITY GROUP BOX-1 (HMGB1) ON ACUTE CHOLECYSTITIS.
  8. N6-methyladenosine regulated FGFR4 attenuates ferroptotic cell death in recalcitrant HER2-positive breast cancer.
    Title: N6-methyladenosine regulated FGFR4 attenuates ferroptotic cell death in recalcitrant HER2-positive breast cancer.
  9. Glycosylation of FGFR4 in cholangiocarcinoma regulates receptor processing and cancer signaling.
    Title: Glycosylation of FGFR4 in cholangiocarcinoma regulates receptor processing and cancer signaling.
  10. FGFR4 and Klotho Polymorphisms Are Not Associated with Cardiovascular Outcomes in Chronic Kidney Disease.
    Title: FGFR4 and Klotho Polymorphisms Are Not Associated with Cardiovascular Outcomes in Chronic Kidney Disease.
Submit: New GeneRIF Correction See all GeneRIFs (180)

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

EBI GWAS Catalog

Description
Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.
EBI GWAS Catalog
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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

  • 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
  
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 IDA
Inferred from Direct Assay
more info
 PubMed 
enables fibroblast growth factor 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 
Process Evidence Code Pubs
involved_in cell migration IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cell surface receptor protein tyrosine kinase signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
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
  
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
  
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 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
  
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 
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 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 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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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_001291980.2 → NP_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/TrEMBL
    B4DVP5, J3KPQ0
    Related
    ENSP00000377259.2, ENST00000393648.6
    Conserved Domains (6) summary
    cd05858
    Location:264 → 351
    Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
    smart00408
    Location:50 → 107
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:162 → 241
    IG_like; Immunoglobulin like
    pfam07714
    Location:399 → 675
    Pkinase_Tyr; Protein tyrosine kinase
    cl11960
    Location:157 → 241
    Ig; Immunoglobulin domain
    cl21453
    Location:399 → 699
    PKc_like; Protein Kinases, catalytic domain

  2. NM_001354984.2 → NP_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
    UniProtKB/Swiss-Prot
    G3JVM2, G3JVM5, G3JVM7, G3JVM9, O43785, P22455, Q14309, Q71TW8, Q8TDA0, Q96KE5
    UniProtKB/TrEMBL
    B4DVP5
    Conserved Domains (4) summary
    cd05858
    Location:264 → 351
    Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
    smart00408
    Location:50 → 107
    IGc2; Immunoglobulin C-2 Type
    cl11960
    Location:157 → 241
    Ig; Immunoglobulin domain
    cl21453
    Location:454 → 767
    PKc_like; Protein Kinases, catalytic domain

  3. NM_002011.5 → NP_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
    G3JVM2, G3JVM5, G3JVM7, G3JVM9, O43785, P22455, Q14309, Q71TW8, Q8TDA0, Q96KE5
    UniProtKB/TrEMBL
    B4DVP5
    Related
    ENSP00000424960.1, ENST00000502906.5
    Conserved Domains (4) summary
    cd05858
    Location:264 → 351
    Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
    smart00408
    Location:50 → 107
    IGc2; Immunoglobulin C-2 Type
    cl11960
    Location:157 → 241
    Ig; Immunoglobulin domain
    cl21453
    Location:454 → 767
    PKc_like; Protein Kinases, catalytic domain

  4. NM_022963.3 → NP_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/TrEMBL
    B4DVP5
    Related
    ENSP00000377254.1, ENST00000393637.5
    Conserved Domains (6) summary
    cd05858
    Location:264 → 351
    Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
    smart00408
    Location:50 → 107
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:162 → 241
    IG_like; Immunoglobulin like
    pfam07714
    Location:427 → 703
    Pkinase_Tyr; Protein tyrosine kinase
    cl11960
    Location:157 → 241
    Ig; Immunoglobulin domain
    cl21453
    Location:414 → 727
    PKc_like; Protein Kinases, catalytic domain

  5. NM_213647.3 → NP_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
    G3JVM2, G3JVM5, G3JVM7, G3JVM9, O43785, P22455, Q14309, Q71TW8, Q8TDA0, Q96KE5
    UniProtKB/TrEMBL
    B4DVP5
    Related
    ENSP00000292408.4, ENST00000292408.9
    Conserved Domains (4) summary
    cd05858
    Location:264 → 351
    Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
    smart00408
    Location:50 → 107
    IGc2; Immunoglobulin C-2 Type
    cl11960
    Location:157 → 241
    Ig; Immunoglobulin domain
    cl21453
    Location:454 → 767
    PKc_like; Protein Kinases, catalytic domain

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_000005.10 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    177630123..177641352
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P22455.2 GenPept UniProtKB/Swiss-Prot:P22455

Gene LinkOut

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