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Gene Symbol |
ARHGAP4 |
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Aliases |
C1, RGC1, RhoGAP4, SrGAP4, p115 |
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Entrez Gene ID |
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Gene Name |
Rho GTPase activating protein 4 |
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Chromosomal Location |
Xq28 |
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HGNC ID |
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Summary |
This gene encodes a member of the rhoGAP family of proteins which play a role in the regulation of small GTP-binding proteins belonging to the RAS superfamily. The protein encoded by the orthologous gene in rat is localized to the Golgi complex and can redistribute to microtubules. The rat protein stimulates the activity of some Rho GTPases in vitro. Genomic deletions of this gene and a neighboring gene have been found in patients with nephrogenic diabetes insipidus. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
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RefSeq DNA |
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RefSeq mRNA |
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e!Ensembl
Gene |
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Transcript |
ENST00000393721, ENST00000370028, ENST00000420383, ENST00000350060, ENST00000370016, ENST00000404127, ENST00000454164, ENST00000442172, ENST00000422918, ENST00000461052, ENST00000418750, ENST00000488269, ENST00000442262, ENST00000422091 |
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Protein |
ENSP00000377322, ENSP00000359045, ENSP00000397533, ENSP00000203786, ENSP00000359033, ENSP00000385042, ENSP00000412437, ENSP00000408656, ENSP00000398019, ENSP00000473840, ENSP00000411712, ENSP00000473936, ENSP00000398259, ENSP00000413782
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Protein Information |
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Protein Name |
Rho GTPase-activating protein 4, Rho-GAP hematopoietic protein C1, rho-type GTPase-activating protein 4 |
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Function |
Inhibitory effect on stress fiber organization. May down-regulate Rho-like GTPase in hematopoietic cells |
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UniProt |
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PDB |
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Interactions |
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STRING |
MINT |
IntAct |
ENSP00000327336 |
P21810 |
P21810 |
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View interactions
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Associated Diseases
Disease group | Disease Name | References |
Endocrine System Diseases |
PCOS |
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Immune System Diseases |
HIV Coinfection |
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HIV Infections |
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Lupus Erythematosus |
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Psychiatric/Brain disorders |
Schizophrenia |
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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, ARHGAP9, 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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