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Gene Gene information from NCBI Gene database.
Entrez ID 2250
Gene name Fibroblast growth factor 5
Gene symbol FGF5
Synonyms (NCBI Gene)
HBGF-5Smag-82TCMGLY
Chromosome 4
Chromosome location 4q21.21
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, cel
SNPs SNP information provided by dbSNP.
3
SNP ID Visualize variation Clinical significance Consequence
rs587777579 G>- Pathogenic Splice donor variant, intron variant
rs587777580 AT>- Pathogenic Coding sequence variant, frameshift variant, upstream transcript variant, genic upstream transcript variant
rs587777581 T>C,G Pathogenic 3 prime UTR variant, missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
650 Show/Hide all (650)
miRTarBase ID miRNA Experiments Reference
MIRT022485 hsa-miR-124-3p Microarray 18668037
MIRT046529 hsa-miR-15b-5p CLASH 23622248
MIRT615284 hsa-miR-548c-3p HITS-CLIP 23824327
MIRT615283 hsa-miR-3613-3p HITS-CLIP 23824327
MIRT615282 hsa-miR-1250-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25 Show/Hide all (25)
GO ID Ontology Definition Evidence Reference
GO:0005104 Function Fibroblast growth factor receptor binding IBA
GO:0005104 Function Fibroblast growth factor receptor binding IDA 8386828
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region TAS
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
165190 3683 ENSG00000138675
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P12034
Protein name Fibroblast growth factor 5 (FGF-5) (Heparin-binding growth factor 5) (HBGF-5) (Smag-82)
Protein function Plays an important role in the regulation of cell proliferation and cell differentiation. Required for normal regulation of the hair growth cycle. Functions as an inhibitor of hair elongation by promoting progression from anagen, the growth phas
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00167 FGF 87 → 216 Fibroblast growth factor Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in neonatal brain.
Sequence
MSLSFLLLLFFSHLILSAWAHGEKRLAPKGQPGPAATDRNPRGSSSRQSSSSAMSSSSAS
SSPAASLGSQGSGLEQSSFQWSPSGRRTGSLYCRVGIGFHLQIYPDGKVNGSHEANMLSV
LEIFAVSQGIVGIRGVFSNKFLAMSKKGKLHASAKFTDDCKFRERFQENSYNTYASAIHR
TEKTGREWYVALNKRGKAKRGCSPRVKPQHISTHFL
PRFKQSEQPELSFTVTVPEKKKPP
SPIKPKIPLSAPRKNTNSVKYRLKFRFG
Sequence length 268
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 FGFR3c ligand binding and activation
Regulation of actin cytoskeleton FGFR1c ligand binding and activation
Pathways in cancer FGFR2c ligand binding and activation
Chemical carcinogenesis - receptor activation FGFR3 mutant receptor activation
Melanoma Activated point mutants of FGFR2
Breast cancer Constitutive Signaling by Aberrant PI3K in Cancer
Gastric cancer Phospholipase C-mediated cascade: FGFR1
  Phospholipase C-mediated cascade; FGFR2
  Phospholipase C-mediated cascade; FGFR3
  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
  Negative regulation of FGFR1 signaling
  Negative regulation of FGFR2 signaling
  Negative regulation of FGFR3 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.).
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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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Trichomegaly Pathogenic rs587777579, rs587777580, rs587777581 RCV000129916
RCV000129917
RCV000129919
★★★★★
★★★★☆
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 (24)
Phenotype Name Clinical Significance Source Reference Evidence Score
ANDROGENETIC ALOPECIA — GWAS catalog 27182965, 28196072, 28272467, 29146897, 30573740
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION — CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
29892015, 30061737, 34594039, 35872910, 36653681, 39024449, 39537608, 40050429, 40645996
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FLUTTER — GWAS catalog 39024449
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BRAIN INFARCTION — GWAS catalog 37601966
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIAC ARRHYTHMIA — GWAS catalog 39024449
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (58)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 11454700
★★★★★
★☆☆☆☆
Found in Text Mining only
Alopecia Alopecia GWASCAT_DG 28196072
★★★★★
★☆☆☆☆
Found in Text Mining only
Alopecia, Androgenetic, 1 Androgenetic Alopecia GWASCAT_DG 27182965, 29146897
★★★★★
★☆☆☆☆
Found in Text Mining only
Alopecia, Androgenetic, 2 Androgenetic Alopecia GWASCAT_DG 27182965, 29146897
★★★★★
★☆☆☆☆
Found in Text Mining only
Alopecia, Androgenetic, 3 Androgenetic Alopecia GWASCAT_DG 27182965, 29146897
★★★★★
★☆☆☆☆
Found in Text Mining only
Alopecia, Male Pattern Alopecia, Male Pattern GWASCAT_DG 27182965, 29146897
★★★★★
★☆☆☆☆
Found in Text Mining only
Alopecia, Male Pattern Alopecia, Male Pattern BEFREE 28272467
★★★★★
★☆☆☆☆
Found in Text Mining only
Androgenetic Alopecia Androgenetic Alopecia GWASCAT_DG 27182965, 29146897
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Atherosclerosis Atherosclerosis Pubtator 10823842 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation CTD_human_DG 30061737
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations