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.
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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
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.
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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  Reactome
  MAPK signaling pathway
Ras signaling pathway
Rap1 signaling pathway
Calcium signaling pathway
PI3K-Akt signaling pathway
Regulation of actin cytoskeleton
Pathways in cancer
Chemical carcinogenesis - receptor activation
Melanoma
Breast cancer
Gastric cancer
  PI3K Cascade
PIP3 activates AKT signaling
Signaling by activated point mutants of FGFR1
Signaling by activated point mutants of FGFR3
FGFR3c ligand binding and activation
FGFR1c ligand binding and activation
FGFR2c ligand binding and activation
FGFR3 mutant receptor activation
Activated point mutants of FGFR2
Constitutive Signaling by Aberrant PI3K in 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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Trichomegaly Pathogenic rs587777579, rs587777580, rs587777581 RCV000129916
RCV000129917
RCV000129919
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
FGF5-related disorder Likely benign rs1028201656, rs371866408, rs35626275, rs112475347 RCV003934545
RCV003964174
RCV003942245
RCV003928444
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alopecia Associate 32758128
Alopecia Areata Associate 20546884
Atherosclerosis Associate 10823842
Atrial Fibrillation Associate 40304040
Brain Neoplasms Associate 18362893
Breast Neoplasms Associate 29804124
Cerebral Infarction Associate 40304040
Colorectal Neoplasms Associate 24485021
Coronary Artery Disease Associate 25740055
Esophageal Squamous Cell Carcinoma Associate 31527639