Free for academic non-profit institutions. Other users need a Commercial license
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 protein was isolated as a secreted factor that exhibits a growth-stimulating effect on cultured glial cells. In nervous system, this protein is produced mainly by neurons and may be important for glial cell development. Expression of the mouse homolog of this gene was found to be dependent on Sonic hedgehog (Shh) signaling. Mice lacking the homolog gene displayed a male-to-female sex reversal phenotype, which suggested a role in testicular embryogenesis. [provided by RefSeq, Jul 2008]
FGF9 (Fibroblast Growth Factor 9) is a Protein Coding gene. Diseases associated with FGF9 include Multiple Synostoses Syndrome 3 and Multiple Synostoses Syndrome. 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 FGF20.
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 |
---|---|---|---|---|---|---|---|---|---|---|
GH13J021668 | Promoter/Enhancer | 2.2 | EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas | 603.3 | +2.0 | 2045 | 8.9 | SP1 CTCF PRDM10 ZNF629 KDM1A ZNF692 BACH1 LARP7 PRDM1 ZNF143 | FGF9 SKA3 lnc-MICU2-1 HSALNG0095624 | |
GH13J021635 | Enhancer | 0.9 | Ensembl ENCODE | 11.5 | -33.6 | -33605 | 3.6 | CTCF PRDM10 JUND REST RAD21 TRIM22 ZNF600 SCRT2 ZBTB20 UBTF | FGF9 MICU2 piR-32214-130 lnc-MICU2-1 | |
GH13J021701 | Enhancer | 0.3 | Ensembl | 11.6 | +30.5 | 30528 | 0.4 | ZSCAN4 MAFK | FGF9 lnc-FGF9-4 HSALNG0095624 | |
GH13J021630 | Enhancer | 0.2 | Ensembl | 11.5 | -40.2 | -40172 | 0.2 | RPS7P10 FGF9 piR-32214-130 MICU2 | ||
GH13J021682 | Enhancer | 0.7 | Ensembl ENCODE | 0.4 | +12.2 | 12235 | 1.3 | PRDM10 ZNF629 ZIC2 FOS BHLHE40 ZNF366 ZNF660 SP7 | HSALNG0095624 FGF9 lnc-FGF9-4 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005104 | fibroblast growth factor receptor binding | IEA | -- |
GO:0008083 | growth factor activity | TAS,IEA | -- |
GO:0008201 | heparin binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005604 | basement membrane | IEA | -- |
GO:0005615 | extracellular space | IDA | 8321227 |
GO:0005737 | cytoplasm | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | RET signaling |
.92
|
.92
|
2 | Downstream signaling of activated FGFR2 | ||
3 | Negative regulation of FGFR3 signaling | ||
4 | GAB1 signalosome |
.89
|
|
5 | Signaling by activated point mutants of FGFR3 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IEA | -- |
GO:0000165 | MAPK cascade | TAS | -- |
GO:0001525 | angiogenesis | IEA | -- |
GO:0001649 | osteoblast differentiation | IEA | -- |
GO:0001654 | eye development | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | ^ | 3a | · | 3b |
---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||
SP2: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | FGF9 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | FGF9 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | FGF9 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | FGF9 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Fgf9 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Fgf9 30 17 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | FGF9 30 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | FGF9 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | FGF9 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | fgf9 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | fgf9-A 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CS-FGF9/16/20 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 13 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
746291 | Benign: not provided | 21,671,954(+) | G/C | MISSENSE_VARIANT | |
778450 | Likely Benign: not provided | 21,681,044(+) | A/G | MISSENSE_VARIANT | |
881303 | Uncertain Significance: Multiple synostoses syndrome 3 | 21,701,472(+) | A/T | THREE_PRIME_UTR_VARIANT | |
881304 | Uncertain Significance: Multiple synostoses syndrome 3 | 21,701,556(+) | A/C | THREE_PRIME_UTR_VARIANT | |
881305 | Uncertain Significance: Multiple synostoses syndrome 3 | 21,701,709(+) | A/G | THREE_PRIME_UTR_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3396861 | CNV | duplication | 20981092 |
nsv1071085 | CNV | deletion | 25765185 |
nsv1078303 | OTHER | inversion | 25765185 |
nsv1140246 | OTHER | inversion | 24896259 |
nsv1151909 | OTHER | inversion | 26484159 |
nsv509497 | CNV | insertion | 20534489 |
nsv832560 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
multiple synostoses syndrome 3 |
|
|
multiple synostoses syndrome |
|
|
pleuropulmonary blastoma |
|
|
apert syndrome |
|
|
craniosynostosis |
|