Gene Gene information from NCBI Gene database.
Entrez ID 2264
Gene name Fibroblast growth factor receptor 4
Gene symbol FGFR4
Synonyms (NCBI Gene)
CD334JTK2TKF
Chromosome 5
Chromosome location 5q35.2
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
SNPs SNP information provided by dbSNP.
4
SNP ID Visualize variation Clinical significance Consequence
rs351855 G>A Pathogenic Coding sequence variant, intron variant, missense variant
rs1057519792 C>A,G Likely-pathogenic Missense variant, coding sequence variant
rs1057519793 T>A Likely-pathogenic Missense variant, coding sequence variant
rs1057520036 A>G Likely-pathogenic Missense variant, coding sequence variant, intron variant
miRNA miRNA information provided by mirtarbase database.
125
miRTarBase ID miRNA Experiments Reference
MIRT460224 hsa-miR-15a-5p PAR-CLIP 23592263
MIRT460223 hsa-miR-15b-5p PAR-CLIP 23592263
MIRT460222 hsa-miR-16-5p PAR-CLIP 23592263
MIRT460221 hsa-miR-195-5p PAR-CLIP 23592263
MIRT460220 hsa-miR-424-5p PAR-CLIP 23592263
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
IKZF1 Activation 11981041
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
61
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0004672 Function Protein kinase activity IEA
GO:0004713 Function Protein tyrosine kinase activity IEA
GO:0004714 Function Transmembrane receptor protein tyrosine kinase activity IEA
GO:0005007 Function Fibroblast growth factor receptor activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
134935 3691 ENSG00000160867
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P22455
Protein name Fibroblast growth factor receptor 4 (FGFR-4) (EC 2.7.10.1) (CD antigen CD334)
Protein function Tyrosine-protein kinase that acts as a cell-surface receptor for fibroblast growth factors and plays a role in the regulation of cell proliferation, differentiation and migration, and in regulation of lipid metabolism, bile acid biosynthesis, gl
PDB 4QQ5 , 4QQC , 4QQJ , 4QQT , 4QRC , 4R6V , 4TYE , 4TYG , 4TYI , 4TYJ , 4UXQ , 4XCU , 5JKG , 5NUD , 5NWZ , 5XFF , 5XFJ , 6IUO , 6IUP , 6J6Y , 6JPE , 6JPJ , 6NVG , 6NVH , 6NVI , 6NVJ , 6NVK , 6V9C , 6YI8 , 7DTZ , 7F3M , 7N1J , 7TYD , 7V29 , 7VJL , 7WCT , 7WCW , 7WCX , 7YBO , 7YBP , 7YBX , 7YC1 , 7YC3 , 7YSW , 8KH6 , 8KH7 , 8KH8 , 8KH9 , 8W5C , 8XLQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07679 I-set 154 241 Immunoglobulin I-set domain Domain
PF13927 Ig_3 248 337 Domain
PF07714 PK_Tyr_Ser-Thr 467 743 Protein tyrosine and serine/threonine kinase Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in gastrointestinal epithelial cells, pancreas, and gastric and pancreatic cancer cell lines. {ECO:0000269|PubMed:10631118}.
Sequence
MRLLLALLGVLLSVPGPPVLSLEASEEVELEPCLAPSLEQQEQELTVALGQPVRLCCGRA
ERGGHWYKEGSRLAPAGRVRGWRGRLEIASFLPEDAGRYLCLARGSMIVLQNLTLITGDS
LTSSNDDEDPKSHRDPSNRHSYPQQAPYWTHPQRMEKKLHAVPAGNTVKFRCPAAGNPTP
TIRWLKDGQAFHGENRIGGIRLRHQHWSLVMESVVPSDRGTYTCLVENAVGSIRYNYLLD
V
LERSPHRPILQAGLPANTTAVVGSDVELLCKVYSDAQPHIQWLKHIVINGSSFGADGFP
YVQVLKTADINSSEVEVLYLRNVSAEDAGEYTCLAGN
SIGLSYQSAWLTVLPEEDPTWTA
AAPEARYTDIILYASGSLALAVLLLLAGLYRGQALHGRHPRPPATVQKLSRFPLARQFSL
ESGSSGKSSSSLVRGVRLSSSGPALLAGLVSLDLPLDPLWEFPRDRLVLGKPLGEGCFGQ
VVRAEAFGMDPARPDQASTVAVKMLKDNASDKDLADLVSEMEVMKLIGRHKNIINLLGVC
TQEGPLYVIVECAAKGNLREFLRARRPPGPDLSPDGPRSSEGPLSFPVLVSCAYQVARGM
QYLESRKCIHRDLAARNVLVTEDNVMKIADFGLARGVHHIDYYKKTSNGRLPVKWMAPEA
LFDRVYTHQSDVWSFGILLWEIFTLGGSPYPGIPVEELFSLLREGHRMDRPPHCPPELYG
LMRECWHAAPSQRPTFKQLVEAL
DKVLLAVSEEYLDLRLTFGPYSPSGGDASSTCSSSDS
VFSHDPLPLGSSSFPFGSGVQT
Sequence length 802
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  MAPK signaling pathway
Ras signaling pathway
Rap1 signaling pathway
Calcium signaling pathway
Endocytosis
PI3K-Akt signaling pathway
Signaling pathways regulating pluripotency of stem cells
Regulation of actin cytoskeleton
Pathways in cancer
  PI3K Cascade
PIP3 activates AKT signaling
betaKlotho-mediated ligand binding
FGFR4 mutant receptor activation
FGFR4 ligand binding and activation
Constitutive Signaling by Aberrant PI3K in Cancer
Phospholipase C-mediated cascade; FGFR4
FRS-mediated FGFR4 signaling
SHC-mediated cascade:FGFR4
PI-3K cascade:FGFR4
Negative regulation of FGFR4 signaling
Signaling by FGFR4 in disease
RAF/MAP kinase cascade
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
12
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Cancer progression and tumor cell motility Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, ADENOID CYSTIC CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHOLELITHIASIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Classic Hodgkin lymphoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 31527546
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 16061909, 17487277, 19296538, 23699534
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma UNIPROT_DG
★☆☆☆☆
Found in Text Mining only
Adenoid Cystic Carcinoma Adenocarcinoma CTD_human_DG 23685749
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 30517925
★☆☆☆☆
Found in Text Mining only
Adenoma of large intestine Colorectal adenoma BEFREE 30517925
★☆☆☆☆
Found in Text Mining only
Adrenocortical Carcinoma Adrenocortical carcinoma Pubtator 34956100 Associate
★☆☆☆☆
Found in Text Mining only
Adult Hepatocellular Carcinoma Liver carcinoma BEFREE 31409633
★☆☆☆☆
Found in Text Mining only
Alveolar rhabdomyosarcoma Alveolar Rhabdomyosarcoma BEFREE 21882254, 22648271
★☆☆☆☆
Found in Text Mining only
Anaplastic astrocytoma Anaplastic Astrocytoma BEFREE 11958417, 16198476
★☆☆☆☆
Found in Text Mining only