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Gene Gene information from NCBI Gene database.
Entrez ID 2249
Gene name Fibroblast growth factor 4
Gene symbol FGF4
Synonyms (NCBI Gene)
FGF-4HBGF-4HSTHST-1HSTF-1HSTF1K-FGFKFGFSRTD22
Chromosome 11
Chromosome location 11q13.3
Summary The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities and are involved in a variety of biological processes including embryonic development, cell
miRNA miRNA information provided by mirtarbase database.
5
miRTarBase ID miRNA Experiments Reference
MIRT018466 hsa-miR-335-5p Microarray 18185580
MIRT1995276 hsa-miR-129-5p CLIP-seq
MIRT1995277 hsa-miR-2052 CLIP-seq
MIRT1995278 hsa-miR-571 CLIP-seq
MIRT1995279 hsa-miR-759 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
3
Transcription factor Regulation Reference
NANOG Activation 22378194
POU5F1 Activation 10801796
SOX2 Activation 10801796
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
45 Show/Hide all (45)
GO ID Ontology Definition Evidence Reference
GO:0001502 Process Cartilage condensation IEA
GO:0005104 Function Fibroblast growth factor receptor binding IBA
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region TAS 2959959
GO:0005615 Component Extracellular space IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
164980 3682 ENSG00000075388
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P08620
Protein name Fibroblast growth factor 4 (FGF-4) (Heparin secretory-transforming protein 1) (HST) (HST-1) (HSTF-1) (Heparin-binding growth factor 4) (HBGF-4) (Transforming protein KS3)
Protein function Plays an important role in the regulation of embryonic development, cell proliferation, and cell differentiation. Required for normal limb and cardiac valve development during embryogenesis. May play a role in embryonic molar tooth bud developme
PDB 1IJT
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00167 FGF 82 → 203 Fibroblast growth factor Domain
Sequence
MSGPGTAAVALLPAVLLALLAPWAGRGGAAAPTAPNGTLEAELERRWESLVALSLARLPV
AAQPKEAAVQSGAGDYLLGIKRLRRLYCNVGIGFHLQALPDGRIGGAHADTRDSLLELSP
VERGVVSIFGVASRFFVAMSSKGKLYGSPFFTDECTFKEILLPNNYNAYESYKYPGMFIA
LSKNGKTKKGNRVSPTMKVTHFL
PRL
Sequence length 206
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
MAPK signaling pathway PI3K Cascade
Ras signaling pathway PIP3 activates AKT signaling
Rap1 signaling pathway Signaling by activated point mutants of FGFR1
Calcium signaling pathway Signaling by activated point mutants of FGFR3
PI3K-Akt signaling pathway FGFR4 ligand binding and activation
Regulation of actin cytoskeleton FGFR3c ligand binding and activation
Pathways in cancer FGFR1c ligand binding and activation
Chemical carcinogenesis - receptor activation FGFR2c ligand binding and activation
Melanoma FGFR3 mutant receptor activation
Breast cancer Activated point mutants of FGFR2
Gastric cancer Constitutive Signaling by Aberrant PI3K in Cancer
  Phospholipase C-mediated cascade: FGFR1
  Phospholipase C-mediated cascade; FGFR2
  Phospholipase C-mediated cascade; FGFR3
  Phospholipase C-mediated cascade; FGFR4
  Downstream signaling of activated FGFR1
  SHC-mediated cascade:FGFR1
  PI-3K cascade:FGFR1
  FRS-mediated FGFR1 signaling
  PI-3K cascade:FGFR2
  SHC-mediated cascade:FGFR2
  FRS-mediated FGFR2 signaling
  SHC-mediated cascade:FGFR3
  FRS-mediated FGFR3 signaling
  PI-3K cascade:FGFR3
  FRS-mediated FGFR4 signaling
  SHC-mediated cascade:FGFR4
  PI-3K cascade:FGFR4
  Negative regulation of FGFR1 signaling
  Negative regulation of FGFR2 signaling
  Negative regulation of FGFR3 signaling
  Negative regulation of FGFR4 signaling
  Signaling by FGFR2 in disease
  Signaling by FGFR1 in disease
  FGFRL1 modulation of FGFR1 signaling
  RAF/MAP kinase cascade
  PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
  Signaling by FGFR3 point mutants in cancer
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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.
Show/Hide Unknown Diseases (6)
Phenotype Name Clinical Significance Source Reference Evidence Score
BREAST NEOPLASMS — CTD 21936542
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR — CTD 25822088
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Thoracic dysostosis, isolated Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
THORACIC MALFORMATION — Disgenet, GenCC
Disgenet, GenCC
—
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (84)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute leukemia Leukemia BEFREE 3030292
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 27677589
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 8100831
★★★★★
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 2474139, 8622895
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast adenocarcinoma Breast Adenocarcinoma CGI_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 12429977, 12841847, 1826346, 18592003, 2071147, 2181375, 2474139, 2677918, 8481921, 8758927, 9184170
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma CTD_human_DG 21936542
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma CGI_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 12841847, 1989653, 24811890 Associate
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Carcinogenesis Carcinogenesis Pubtator 12841847 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only