Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2250
Gene name Gene Name - the full gene name approved by the HGNC.
Fibroblast growth factor 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FGF5
Synonyms (NCBI Gene) Gene synonyms aliases
HBGF-5, Smag-82, TCMGLY
Disease Acronyms (UniProt) Disease acronyms from UniProt database
TCMGLY
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q21.21
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000165 Process MAPK cascade TAS
GO:0001934 Process Positive regulation of protein phosphorylation IBA 21873635
GO:0005104 Function Fibroblast growth factor receptor binding IBA 21873635
GO:0005104 Function Fibroblast growth factor receptor binding IDA 8386828
GO:0005576 Component Extracellular region TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
165190 3683 ENSG00000138675
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Atrial fibrillation Atrial Fibrillation rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557
View all (6 more)
30061737
Cataract Cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322
View all (150 more)
Hypertension Hypertensive disease rs13306026 30487518
Trichomegaly Familial isolated trichomegaly rs587777579, rs587777580, rs587777581 24989505
Unknown
Disease term Disease name Evidence References Source
Paroxysmal atrial fibrillation Paroxysmal atrial fibrillation 30061737 ClinVar
Coronary artery disease Coronary artery disease GWAS
Atrial Fibrillation Atrial Fibrillation GWAS
Kidney Disease Kidney Disease GWAS
Associations from Text Mining
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