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

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; 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: mouse all
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Genomic context

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_000005.10 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 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?

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.
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.
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.
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.
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.
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.
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.
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.
Glycosylation of FGFR4 in cholangiocarcinoma regulates receptor processing and cancer signaling.
Title: Glycosylation of FGFR4 in cholangiocarcinoma regulates receptor processing and cancer signaling.
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 EBI GWAS CatalogPubMed
Hundreds of variants clustered in genomic loci and biological pathways affect human height. 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

STS-L03840 (e-PCR)
- UniSTS:55376

Fgfr4 (e-PCR), detects polymorphism
- UniSTS:547831

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

EC 2.7.10.1

NP_001341913.1

EC 2.7.10.1

NP_002002.3

EC 2.7.10.1

NP_075252.2

EC 2.7.10.1

NP_998812.1

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_012067.1 RefSeqGene

Range

4996..16225

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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
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