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Gene Symbol |
ARHGAP9 |
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Aliases |
10C, RGL1 |
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Entrez Gene ID |
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Gene Name |
Rho GTPase activating protein 9 |
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Chromosomal Location |
12q13.3 |
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HGNC ID |
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Summary |
This gene encodes a member of the Rho-GAP family of GTPase activating proteins. The protein has substantial GAP activity towards several Rho-family GTPases in vitro, converting them to an inactive GDP-bound state. It is implicated in regulating adhesion of hematopoietic cells to the extracellular matrix. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
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RefSeq DNA |
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RefSeq mRNA |
NM_032496.4, NM_001080156.3, NM_001080157.2, NM_001319850.2, NM_001319851.2, NM_001319852.2, NM_001367422.1, NM_001367423.1, NM_001367424.1, NM_001367425.1, NM_001367426.1 |
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e!Ensembl
Gene |
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Transcript |
ENST00000424809, ENST00000393797, ENST00000550399, ENST00000550288, ENST00000393791, ENST00000430041, ENST00000550130, ENST00000548139, ENST00000552604, ENST00000551452, ENST00000552066, ENST00000549602, ENST00000552249, ENST00000670128 |
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Protein |
ENSP00000394307, ENSP00000377386, ENSP00000448404, ENSP00000473445, ENSP00000377380, ENSP00000397950, ENSP00000448423, ENSP00000449829, ENSP00000450256, ENSP00000446932, ENSP00000448424, ENSP00000450223, ENSP00000448358, ENSP00000499232
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Protein Information |
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Protein Name |
Rho GTPase-activating protein 9, rho-type GTPase-activating protein 9 |
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Function |
GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. Has a substantial GAP activity toward CDC42 and RAC1 and less toward RHOA. Has a role in regulating adhesion of hematopoietic cells to the extracellular matrix. Binds phosphoinositides, and has the highest affinity for phosphatidylinositol 3,4,5-trisphosphate, followed by phosphatidylinositol 3,4-bisphosphate and phosphatidylinositol 4,5-bisphosphate. |
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NP_115885.2, NP_001073625.1, NP_001073626.1, NP_001306779.2, NP_001306780.1, NP_001306781.1, NP_001354351.1, NP_001354352.1, NP_001354353.1, NP_001354354.1, NP_001354355.1
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UniProt |
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PDB |
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Interactions |
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STRING |
MINT |
IntAct |
ENSP00000418960 |
P38398 |
P38398 |
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View interactions
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Associated Diseases
Disease group | Disease Name | References |
Cardiovascular Diseases |
Coronary Artery Vasospasm |
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Endocrine System Diseases |
PCOS |
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References |
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PubMed ID |
Associated gene/s |
Associated condition |
Genetic Mutation |
Diagnostic Criteria |
Association with PCOS |
Ethnicity |
Conclusion |
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ACTB, ARHGAP4, RHOG, LYN, MYH9 |
PCOS, ovulatory dysfunction, hyperandrogenism, polycystic ovaries, insulin resistance, obesity, and dyslipidemia |
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Rotterdam diagnostic criteria |
Related
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7 PCOS granulosa samples and 3 control granulosa samples |
The Regulation of RhoA activity, Signaling by Rho GTPases, and GP VI-mediated activation cascade pathways may be associated with PCOS-related hormone imbalance and platelet dysfunction. LYN, ARHGAP4, ARHGAP9 and RHOG are promising candidate genes in PCOS, and may be recommended as possible therapeutic targets for PCOS. |
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