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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 displayed oncogenic transforming activity when transfected into mammalian cells. The mouse homolog of this gene exhibits a restricted expression profile predominantly in the myogenic lineage, which suggested a role in muscle regeneration or differentiation. [provided by RefSeq, Jul 2008]
FGF6 (Fibroblast Growth Factor 6) is a Protein Coding gene. Diseases associated with FGF6 include Apert Syndrome and Breast Cancer. 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 FGF4.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH12J004445 | Promoter | 0.3 | EPDnew | 600.7 | 0.0 | -36 | 0.1 | FGF6 piR-33614-048 C12orf4 | ||
GH12J004444 | Enhancer | 0.2 | Ensembl | 600.7 | +0.9 | 898 | 0.2 | FGF6 piR-48373-003 FGF23 | ||
GH12J004443 | Enhancer | 0.2 | Ensembl | 600.7 | +1.5 | 1498 | 0.2 | FGF6 piR-48373-003 FGF23 | ||
GH12J004472 | Enhancer | 0.8 | FANTOM5 Ensembl ENCODE | 12.2 | -26.3 | -26302 | 2.6 | IKZF1 SPI1 EBF1 ETV6 | FGF6 piR-33614-048 piR-46002-100 C12orf4 | |
GH12J004414 | Enhancer | 0.8 | Ensembl ENCODE | 11.5 | +30.6 | 30551 | 1.1 | POLR2A RAD21 HES1 MNT MYC RCOR1 ATF4 BHLHE40 ATF3 NRF1 | FGF6 FGF23 C12orf4 RAD51AP1 lnc-FGF6-1 piR-32023-052 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0008083 | growth factor activity | TAS,IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005615 | extracellular space | IEA | -- |
GO:0042383 | sarcolemma | IEA | -- |
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 | 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
|
5 | GAB1 signalosome |
.89
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000165 | MAPK cascade | TAS | -- |
GO:0001502 | cartilage condensation | IEA | -- |
GO:0001525 | angiogenesis | IEA | -- |
GO:0007165 | signal transduction | IEA | -- |
GO:0007275 | multicellular organism development | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Heparin | Approved, Investigational | Pharma | Antagonist | 1058 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | FGF6 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | FGF6 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | FGF6 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Fgf6 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Fgf6 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | FGF6 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | FGF6 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | FGF6 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | FGF6 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | fgf6 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | fgf6b 31 |
|
OneToMany | |
fgf6a 31 |
|
OneToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.125 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs11613495 | - | p.Val36Ala | |||
rs17183529 | - | p.Ala63Val | |||
rs17183778 | - | p.Arg191Trp | |||
rs7961645 | - | p.Asp174Val |
Disorder | Aliases | PubMed IDs |
---|---|---|
apert syndrome |
|
|
breast cancer |
|
|
desmoid disease, hereditary |
|
|