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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 growth, morphogenesis, tissue repair, tumor growth and invasion. This gene was identified as an oncogene, which confers transforming potential when transfected into mammalian cells. Targeted disruption of the homolog of this gene in mouse resulted in the phenotype of abnormally long hair, which suggested a function as an inhibitor of hair elongation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
FGF5 (Fibroblast Growth Factor 5) is a Protein Coding gene. Diseases associated with FGF5 include Trichomegaly and Hereditary Spherocytosis. Among its related pathways are RET signaling and Signaling by FGFR2 in disease. Gene Ontology (GO) annotations related to this gene include growth factor activity and fibroblast growth factor receptor binding. An important paralog of this gene is FGF3.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005104 | fibroblast growth factor receptor binding | IEA,IDA | 8386828 |
GO:0008083 | growth factor activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IEA,TAS | -- |
GO:0005615 | extracellular space | TAS | 9786939 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | RET signaling |
.92
|
.92
|
2 | Downstream signaling of activated FGFR2 | ||
3 | Apoptotic Pathways in Synovial Fibroblasts |
Cellular Apoptosis Pathway
.85
Mitochondrial Apoptosis
.85
Apoptotic Pathways in Synovial Fibroblasts
.84
p53 Mediated Apoptosis
.84
DHA Signaling
.74
Telomerase Components in Cell Signaling
.72
PPAR Pathway
.66
|
Rac1 Pathway
.65
Glioma Invasiveness
.64
Actin-Based Motility by Rho Family GTPases
.62
ERK5 Signaling
.61
eIF2 Pathway
.60
Rap1 Pathway
.57
Nuclear Receptor Activation by Vitamin-A
.57
|
4 | Negative regulation of FGFR3 signaling | ||
5 | GPCR Pathway |
Paxillin Interactions
.73
Ras Pathway
.73
GPCR Pathway
.62
Pancreatic Adenocarcinoma
.59
|
Breast Cancer Regulation by Stathmin1
.58
NFAT in Immune Response
.58
Estrogen Pathway
.55
P2Y Receptor Signaling
.38
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000165 | MAPK cascade | TAS | -- |
GO:0007267 | cell-cell signaling | TAS | 9786939 |
GO:0007399 | nervous system development | TAS | 9786939 |
GO:0008284 | positive regulation of cell proliferation | IGI | 8663044 |
GO:0008543 | fibroblast growth factor receptor signaling pathway | IEA,TAS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Heparin | Approved, Investigational | Pharma | Antagonist | 1058 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | FGF5 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | FGF5 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | FGF5 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | FGF5 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Fgf5 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Fgf5 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | FGF5 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | FGF5 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | FGF5 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | fgf5 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | fgf5 30 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
786515 | Likely Benign: not provided | 80,267,067(+) | G/T | MISSENSE_VARIANT | |
rs587777579 | Pathogenic: Trichomegaly | 80,275,012(+) | TG/T | SPLICE_DONOR_VARIANT,INTRON_VARIANT | |
rs587777580 | Pathogenic: Trichomegaly | 80,266,982(+) | CTA/C | FRAMESHIFT_VARIANT | |
rs587777581 | Pathogenic: Trichomegaly. Trichomegaly (TCMGLY) [MIM:190330] | 80,286,385(+) | T/Cp.Tyr174His | MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT | |
rs33950145 | - | p.Met54Val |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3893966 | CNV | loss | 25118596 |
Disorder | Aliases | PubMed IDs |
---|---|---|
trichomegaly |
|
|
hereditary spherocytosis |
|
|
hypertrichosis |
|
|
orofacial cleft |
|
|
telogen effluvium |
|
|