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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
20
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cancer progression and tumor cell motility Conflicting classifications of pathogenicity rs351855 RCV000017723
Classic Hodgkin lymphoma Likely benign rs376618 RCV002227947
Embryonal rhabdomyosarcoma - rs1057519792 RCV006254496
FGFR4-related disorder Benign; Likely benign; Conflicting classifications of pathogenicity rs1966265, rs376618, rs351855, rs42409, rs452885, rs31776, rs446382, rs779369671, rs55675160, rs138464768, rs1784435046, rs151207425, rs374603394, rs147603016 RCV003968511
RCV003973350
RCV003974837
RCV003967389
RCV003984658
RCV003982342
RCV003982528
RCV003973882
RCV003951892
RCV003943810
RCV003914371
RCV003944727
RCV003979272
RCV003966778
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Inhibit 15016321
Adenocarcinoma Associate 31527546, 34724890
Adenocarcinoma of Lung Associate 17487277, 32781755, 34642306
Adrenocortical Carcinoma Associate 34956100
Alveolar echinococcosis Associate 24288432
Brain Neoplasms Associate 27926948
Breast Neoplasms Associate 14601095, 15377668, 19240166, 20147743, 23226373, 25349422, 26152288, 26431494, 27192118, 27926948, 29763898, 30359238, 32381997, 32710281, 33446698
View all (3 more)
Bronchopulmonary Dysplasia Associate 24288432
Cap Myopathy Stimulate 15655558
Carcinogenesis Associate 12937159, 21567388, 25686244