1. Gene
  2. FGFR4 - fibroblast growth factor receptor 4 Gene

FGFR4 - fibroblast growth factor receptor 4 Gene

Homo sapiens

Also known as TKF; JTK2; CD334

Gene ID: 2264 | Gene type: protein coding

About FGFR4

Cytogenetic location: 5q35.2 Genomic coordinates (GRCh38): 5:177,086,915-177,098,144 (from NCBI)

This gene has 16 transcripts (splice variants), 120 orthologues, 53 paralogues and is associated with 104 phenotypes. Broad expression in lung (RPKM 16.7), kidney (RPKM 12.5) and 15 other tissues.

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]

FGFR4 Products(5)

mRNA Protein Name
NM_001354984.2 NP_001341913.1 fibroblast growth factor receptor 4 isoform 1 precursor
NM_213647.3 NP_998812.1 fibroblast growth factor receptor 4 isoform 1 precursor
NM_022963.3 NP_075252.2 fibroblast growth factor receptor 4 isoform 2 precursor
NM_001291980.2 NP_001278909.1 fibroblast growth factor receptor 4 isoform 3 precursor
NM_002011.5 NP_002002.3 fibroblast growth factor receptor 4 isoform 1 precursor
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables fibroblast growth factor binding IDA
IDA: Inferred from direct assay
8663044 GOA
enables fibroblast growth factor binding IPI
IPI: Inferred from physical interaction
10525310 GOA
enables fibroblast growth factor receptor activity IDA
IDA: Inferred from direct assay
8663044 GOA
enables fibroblast growth factor receptor activity IGI
IGI: Inferred from genetic interaction
10525310 GOA
enables heparin binding IDA
IDA: Inferred from direct assay
18480409 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
17627937 GOA
Biological Process GO Annotation Evidence Reference Source
involved in cell migration IMP
IMP: Inferred from mutant phenotype
20876804 GOA
involved in fibroblast growth factor receptor signaling pathway IDA
IDA: Inferred from direct assay
18480409 GOA
acts upstream of or within fibroblast growth factor receptor signaling pathway IGI
IGI: Inferred from genetic interaction
8663044 GOA
acts upstream of or within fibroblast growth factor receptor signaling pathway IPI
IPI: Inferred from physical interaction
10525310 GOA
involved in peptidyl-tyrosine phosphorylation IDA
IDA: Inferred from direct assay
20683963 GOA
involved in positive regulation of DNA biosynthetic process IMP
IMP: Inferred from mutant phenotype
21653700 GOA
involved in positive regulation of ERK1 and ERK2 cascade IMP
IMP: Inferred from mutant phenotype
21653700 GOA
involved in positive regulation of catalytic activity IMP
IMP: Inferred from mutant phenotype
20798051 GOA
involved in positive regulation of cell population proliferation IDA
IDA: Inferred from direct assay
8663044 GOA
acts upstream of or within positive regulation of cell population proliferation IGI
IGI: Inferred from genetic interaction
8663044 GOA
involved in positive regulation of gene expression IMP
IMP: Inferred from mutant phenotype
19085950 GOA
involved in positive regulation of proteolysis IMP
IMP: Inferred from mutant phenotype
20798051 GOA
involved in protein autophosphorylation IDA
IDA: Inferred from direct assay
20798051 GOA
involved in regulation of bile acid biosynthetic process IMP
IMP: Inferred from mutant phenotype
17623664 GOA
involved in regulation of extracellular matrix disassembly IMP
IMP: Inferred from mutant phenotype
20876804 GOA
NOT involved in response to bile acid IMP
IMP: Inferred from mutant phenotype
19085950 GOA
Cellular Component GO Annotation Evidence Reference Source
located in Golgi apparatus IDA
IDA: Inferred from direct assay
18061161 GOA
colocalizes with cell-cell junction IDA
IDA: Inferred from direct assay
20798051 GOA
located in endoplasmic reticulum IDA
IDA: Inferred from direct assay
20683963 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
18061161 GOA
located in transport vesicle IDA
IDA: Inferred from direct assay
18061161 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FGFR4 Protein Structure

I-set

I-set: Immunoglobulin I-set domain (161 - 236)

I-set

I-set: Immunoglobulin I-set domain (256 - 350)

Pkinase_Tyr

Pkinase_Tyr: Protein tyrosine kinase (467 - 743)

  • 0
  • 200
  • 400
  • 600
  • 802 a.a.
Protein Preferred Names Protein Names

fibroblast growth factor receptor 4

hydroxyaryl-protein kinase

protein-tyrosine kinase

tyrosine kinase related to fibroblast growth factor receptor

tyrosylprotein kinase

FGFR4 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
FGFR4 P22455 FGFR1 Homo sapiens P11362
BioID
35384245
Intra
FGFR4 P22455 FGFR1 Homo sapiens P11362
Anti Tag CoIP
35384245
Intra
FGFR4 P22455 FGFR1 Homo sapiens P11362
Affinity Chrom
35384245
Intra
FGFR4 P22455 MMP14 Homo sapiens P50281
Anti Bait CoIP
20798051
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant FGFR4 Proteins

Cat. No. Product Name Accession Purity
HY-P73057 FGFR-4 Protein, Human (HEK293, Fc) NP_002002.3 (L22-D369) ≥95%
HY-P73059 FGFR-4 Protein, Human (HEK293, His) P22455-1 (L22-D369) ≥95%
HY-P77549 FGFR-4 Protein, Human (Biotinylated, HEK293, His) P22455-1 (L22-D369) ≥95%
HY-P78127 FGFR-4 Protein, Human (Biotinylated, HEK293, His-Avi) P22455-1 (L22-D369) ≥95%
HY-P78441 FGFR-4 Protein, Human (HEK293, His-Avi) P22455-1 (L22-D369) ≥95%

Related Diseases

Diseases Alias
Primary Biliary Cholangitis

Primary Biliary Cirrhosis

Biliary Liver Cirrhosis

Chronic Nonsuppurative Destructive Cholangitis

Familial Primary Biliary Cirrhosis

Pbc

Hanot Syndrome

Cholestatic Cirrhosis

Biliary Cirrhosis Primary

Liver Cirrhosis, Biliary

Hanot'S Cirrhosis

Biliary Cirrhosis

Pericholangiolic Biliary Cirrhosis

Tannhauser-Magendantz Syndrome

Hanot-Rossle Syndrome

Hypertrophic Cirrhosis

Todd Cirrhosis

Hanot Cirrhosis

Charcot Cirrhosis

Mahon-Tannhauser Syndrome

Toxic Cirrhosis

Hypertrophic Biliary Cirrhosis

Monolobular Cirrhosis

Unilobar Cirrhosis

Xanthomatous Biliary Cirrhosis

Rhabdomyosarcoma 2

Alveolar Rhabdomyosarcoma

Rhabdomyosarcoma, Alveolar

Rhabdomyosarcoma Alveolar

RMS2

Rmsa

Rhabdomyosarcoma 2, Alveolar

Alveolar Childhood Rhabdomyosarcoma

Arms

Rhabdomyosarcoma, Type 2

Hypochondroplasia

HCH

Hypochondrodysplasia

Chondrogenesis Imperfecta

Hypochondroplastic Dwarfism

Hypochondroplastic Short Stature

Orbit Embryonal Rhabdomyosarcoma

Embryonal Rhabdomyosarcoma Of The Orbit

Pleomorphic Rhabdomyosarcoma

Adult Pleomorphic Rhabdomyosarcoma

Anaplastic Rhabdomyosarcoma

Pleomorphic Rhabdomyosarcoma, Adult Type

Rhabdomyosarcoma
Lacrimoauriculodentodigital Syndrome

Ladd Syndrome

Levy-Hollister Syndrome

Lacrimo-Auriculo-Dento-Digital Syndrome

LADD

Lacrimoauriculodento-Digital Syndrome

Levy Hollister Syndrome

Lard Syndrome

Lacrimoauriculoradiodental Syndrome

LADDS

Congenital Duodenal Obstruction Due To Malrotation Of Intestine

Hepatocellular Clear Cell Carcinoma

Clear Cell Carcinoma Of The Liver Cells

Hepatocellular Carcinoma, Clear Cell Type

Clear Cell Hepatocellular Carcinoma

Hypophosphatemic Rickets, X-Linked Dominant

Xlh

Vitamin D-Resistant Rickets, X-Linked

X-Linked Hypophosphatemia

XLHR

Hyp

Hypophosphatemic Vitamin D-Resistant Rickets

Hpdr

X-Linked Hypophosphatemic Rickets

X-Linked Dominant Hypophosphatemic Rickets

Familial Hypophosphatemic Rickets

Hypophosphatemia, X-Linked

Hypophosphatemia, Vitamin D-Resistant Rickets

Hypophosphatemic Rickets X-Linked Dominant

X-Linked Vitamin D-Resistant Rickets

Hypophophatemia, X-Linked

Hypophophatemic Vitamin D-Resistant Rickets

Hypophosphatemia X-Linked

Vitamin D-Resistant Rickets X-Linked

Vitamin D-Resistant Rickets

Rickets, X-Linked Hypophosphatemic

Squamous Cell Carcinoma, Head And Neck

Squamous Cell Carcinoma Of The Head And Neck

HNSCC

Head And Neck Squamous Cell Carcinoma

Head And Neck Cancer

Squamous Cell Carcinoma Of Lip

Squamous Cell Carcinoma, Head And Neck, Somatic

Carcinoma Of The Head And Neck

Squamous Cell Carcinomas Of Head And Neck

Scchn

Squamous Cell Carcinoma Of The Hypopharynx

Squamous Cell Carcinoma Of The Oropharynx

Squamous Cell Carcinoma Of Salivary Glands

Squamous Cell Carcinoma Of The Nasal Cavity And Paranasal Sinuses

Squamous Cell Carcinoma Of The Nasal Cavity And Sinuses

Squamous Cell Carcinoma Of The Oral Cavity

Squamous Cell Carcinoma Of The Lip

Carcinoma, Squamous Cell Of Head And Neck

Lip Squamous Cell Carcinoma

Cancer, Head/Neck

Carcinoma, Squamous Cell, Head And Neck

Salivary Gland Squamous Cell Carcinoma

Cancer Of Head And Neck

Squamous Cell Carcinoma Of Oropharynx Nos

Prostate Cancer

Prostate Carcinoma

Prostate Cancer, Familial

Prostate Neoplasm

Prostate Cancer, Somatic

Prostate Cancer, Susceptibility To

Prostatic Cancer

Prostatic Neoplasms

Hereditary Prostate Cancer

Prostatic Neoplasm

Cancer Of Prostate

Carcinoma Of Prostate

Familial Prostate Cancer

Familial Prostate Carcinoma

Malignant Tumor Of Prostate

Malignant Neoplasm Of Prostate

Prostate Cancer, Familial, Susceptibility To

Malignant Tumor Of The Prostate

Ngp - New Growth Of Prostate

Tumor Of The Prostate

Prostate Cancer, Hereditary

Cancer Of The Prostate

Malignant Neoplasm Of The Prostate

Prostatic Carcinoma

PC

Prca

Cancer, Prostate

Malignant Prostatic Tumour

Malignant Tumour Of Prostate

Primary Prostate Cancer

Primary Malignant Neoplasm Of Prostate

Prostate Gland Cancer

Apert Syndrome

Acrocephalosyndactyly Type I

Acs1

Acrocephalosyndactylia

Acs I

Apert-Crouzon Disease

Acrocephalosyndactyly

Acrocephalosyndactyly Type 1

Acrocephalosyndactyly, Type I

Acs 1

Acrocephalo-Syndactyly Type 1

Syndactylic Oxycephaly

Apert'S Syndrome

Type I Acrocephalosyndactyly

APRS

Embryonal Rhabdomyosarcoma

Rhabdomyosarcoma, Embryonal

Rhabdomyosarcoma Embryonal

Botryoid Rhabdomyosarcoma

Erms

Spindle Cell Rhabdomyosarcomas

Craniosynostosis

Premature Closure Of Cranial Sutures

Craniostenosis

Craniosynostosis Syndrome

Cso

Craniosynostoses

Congenital Ossification Of Cranial Sutures

Congenital Ossification Of Sutures Of Skull

Craniostosis

Imperfect Fusion Of Skull

Congenital Imperfect Closure Skull

Imperfect Closure Skull

Premature Closure Cranium Sutures

Deficiency Of Craniofacial Axis

Crouzon Syndrome

Crouzon Craniofacial Dysostosis

Craniofacial Dysostosis

Cfd1

Craniofacial Dysostosis Type 1

Crouzon Disease

Crouzon'S Disease

Craniofacial Dysostosis, Type I

Craniofacial Dysarthrosis

Craniofacial Dysostosis Syndrome

CS

Craniofacial Dysostosis Type I

Vogt Cephalosyndactyly

Extrahepatic Cholestasis

Cholestasis, Extrahepatic

Extrahepatic Biliary Stasis

Extrahepatic Obstructive Biliary Disease

Cholestasis Extrahepatic

Pancreatic Cancer

Pancreatic Carcinoma

Familial Pancreatic Carcinoma

Pancreatic Neoplasm

Carcinoma Of Pancreas

Pancreatic Carcinoma, Familial

Malignant Neoplasm Of Pancreas

Pancreatic Acinar Carcinoma

Pancreatic Tumor

Familial Pancreatic Cancer

Neoplasm Of The Pancreas

Pancreatic Carcinoma, Somatic

Pancreatic Cancer, Somatic

Ca Body Of Pancreas

Ca Head Of Pancreas

Ca Tail Of Pancreas

Malignant Neoplasm Of Body Of Pancreas

Malignant Neoplasm Of Head Of Pancreas

Malignant Neoplasm Of Tail Of Pancreas

Pancreas Neoplasm

Exocrine Cancer

Exocrine Pancreas Carcinoma

Hereditary Pancreatic Cancer

Hereditary Pancreatic Carcinoma

PNCA

Cancer Of The Pancreas

Pancreatic Cancer, Susceptibility To

Carcinoma Of Head Of Pancreas

Pancreatic Neoplasms

Pancreatic Tumors

Cancer, Pancreatic

Cancer Of Pancreas

Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site

Lung Cancer Susceptibility 3

Lung Adenocarcinoma

Adenocarcinoma Of Lung

LNCR3

Adenocarcinoma Of Lung, Susceptibility To

Bronchogenic Lung Adenocarcinoma

Nonsmall Cell Adenocarcinoma

Adenocarcinoma Lung

Lung Adenocarcinomas

Non-Small Cell Adenocarcinoma

Tumoral Calcinosis, Hyperphosphatemic, Familial, 1

Hyperphosphatemic Familial Tumoral Calcinosis

Hftc

Hyperostosis-Hyperphosphatemia Syndrome

Familial Hyperphosphatemic Tumoral Calcinosis/Hyperphosphatemic Hyperostosis Syndrome

Tumoral Calcinosis, Hyperphosphatemic, Familial

Phptc

Lipocalcinogranulomatosis

Morbus Teutschlaender

Hhs

Hyperostosis With Hyperphosphatemia

Cortical Hyperostosis With Hyperphosphatemia

Primary Hyperphosphatemic Tumoral Calcinosis

Familial Tumoral Calcinosis

HFTC1

Hypercalcemic Tumoral Calcinosis

Hyperphosphatemia Hyperostosis

Hyperphosphatemia Hyperostosis Syndrome

Hyperphosphatemia Tumoral Calcinosis

Calcinosis, Tumoral, With Hyperphosphatemia

Tumoral Calcinosis, Primary Hyperphosphatemic

Teutschlaender Disease, Familial

Familial Teutschlaender Disease

Tumoral Calcinosis With Hyperphosphatemia

Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome

Ftc/Hhs

Familial Tumoral Calcinosis With Hyperphosphatemia

Teutschlaender Disease

Tumoral Calcinosis Primary Hyperphosphatemic

Calcinosis, Tumoral, Hyperphosphatemic, Familial

Tumoral Calcinosis

Outlet Dysfunction Constipation
Diarrhea

Diarrhoea

Diarrhea Of Presumed Infectious Origin

Breast Cancer

Breast Carcinoma

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Male Breast Cancer

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation

Muscle Cancer

Myosarcoma

Malignant Neoplasm Of Muscle

Malignant Tumor Of Muscle

Malignant Tumor Of The Muscle

Muscle Neoplasms

Myomatous Neoplasm

Parameningeal Embryonal Rhabdomyosarcoma
Functional Diarrhea

Functional Diarrhoea

Neuroma
Adenoid Cystic Carcinoma

Adenocystic Carcinoma

Cribriform Carcinoma

Cylindroma

Carcinoma Adenoid Cystic

Carcinoma, Adenoid Cystic

Adenoid Cystic Carcinoma Of Salivary Gland

Eccrine Dermal Cylindroma

Carcinoma, Cribriform

Phosphorus Metabolism Disease

Phosphorus Metabolism Disorders

Disorder Of Phosphorus Metabolism

Phosphorus Disorder

Phosphorus Metabolism Disorder

Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans

SADDAN

Saddan Dysplasia

Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome

Severe Achondroplasia With Developmental Delay And Acanthosis Nigricans

Ssb Syndrome

Skeleton Skin Brain Syndrome

Skeleton-Skin-Brain Syndrome

Achondroplasia

Thanatophoric Dysplasia, Type I

Thanatophoric Dysplasia

Thanatophoric Dwarfism

Thanatophoric Dysplasia Type 1

TD1

Td

Thanatophoric Short Stature

Thanatophoric Dwarfism Type 1

Thanatophoric Dysplasia Type I

Platyspondylic Lethal Skeletal Dysplasia, San Diego Type

Lethal Short-Limbed Platyspondylic Dwarfism, San Diego Type

Skeletal Dysplasia, San Diego Type

Plsd San Diego Type

Thanatophoric Dwarfism 1

Dwarfism Thanatophoric

Dwarf, Thanatophoric

Thanatophoric Dysplasia 1

Lethal Short-Limbed Platyspondylic Dwarfism San Diego Type

Platyspondylic Lethal Skeletal Dysplasia San Diego Type

Thanatophoric Dwarf

Thanatophoric Dwarfism Or Short Stature

Thanatophoric Dwarfism Syndrome

Td - [Thanatophoric Dwarfism]

Skeletal Muscle Cancer

Malignant Tumor Of Skeletal Muscle

Skeletal Muscle Neoplasm

Muenke Syndrome

Muenke Nonsyndromic Coronal Craniosynostosis

Fgfr3-Related Craniosynostosis

Fgfr3-Associated Coronal Synostosis

Coronal Craniosynostosis

MNKES

Syndrome Of Coronal Craniosynostosis

MNKS

Fgfr3-Related Isolated Coronal Synostosis

Muenke Non-Syndromic Coronal Craniosynostosis

Anaplastic Astrocytoma

Grade Iii Astrocytoma

Grade Iii Astrocytic Tumor

Astrocytoma, Anaplastic

Intrahepatic Cholestasis Of Pregnancy

Recurrent Intrahepatic Cholestasis Of Pregnancy

Gravidic Intrahepatic Cholestasis

Pregnancy-Related Cholestasis

Icp

Pregnancy Related Cholestasis

Cholestasis, Intrahepatic Of Pregnancy

Familial Intrahepatic Cholestasis Of Pregnancy

Familial Recurrent Intrahepatic Cholestasis Of Pregnancy

Ricp

Obstetric Cholestasis

Orbit Rhabdomyosarcoma

Rhabdomyosarcoma Of The Orbit

Rhabdomyosarcoma Of Orbit

Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus FGFR4 VGNC VGNC:62260
Rattus norvegicus FGFR4 RGD RGD:2612
Macaca mulatta FGFR4 VGNC VGNC:72654
Canis familiaris FGFR4 VGNC VGNC:40861
Mus musculus FGFR4 MGD MGI:95525
Bos taurus FGFR4 VGNC VGNC:28988
Others FGFR4 NCBI