ARHGAP4

Gene Information
 
Gene Symbol
ARHGAP4
 
Aliases
C1, RGC1, RhoGAP4, SrGAP4, p115
 
Entrez Gene ID
393
 
Gene Name
Rho GTPase activating protein 4
 
Chromosomal Location
Xq28
 
HGNC ID
 
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]
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Function Evidence Reference
GO:0007010 Biological process Cytoskeleton organization TAS 8570618
GO:0007266 Biological process Rho protein signal transduction TAS 8570618
GO:0030336 Biological process Negative regulation of cell migration IBA 21873635
GO:0005737 Cellular component Cytoplasm IBA 21873635
GO:0005070 Molecular function SH3/SH2 adaptor activity TAS 8570618
Protein Information
 
Protein Name
Rho GTPase-activating protein 4, Rho-GAP hematopoietic protein C1, rho-type GTPase-activating protein 4
 
Function
Inhibitory effect on stress fiber organization. May down-regulate Rho-like GTPase in hematopoietic cells
 
Refseq Proteins
 
UniProt
 
PDB
 
Pfam
Pfam Accession Pfam ID
PF00611 FCH
PF00620 RhoGAP
PF00018 SH3_1
Pathways
 
Reactome
 

 

Rho GTPase cycle

Interactions
 
STRING MINT IntAct
ENSP00000327336 P21810 P21810
    View interactions
     

Associated Diseases

Disease groupDisease NameReferences
Endocrine System Diseases
PCOS
Immune System Diseases
HIV Coinfection
HIV Infections
Lupus Erythematosus
Psychiatric/Brain disorders
Schizophrenia
References
 
 
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
ACTB, ARHGAP9, RHOG, LYN, MYH9 
PCOS, ovulatory dysfunction, hyperandrogenism, polycystic ovaries, insulin resistance, obesity, and dyslipidemia 
 
Rotterdam diagnostic criteria 
Related 
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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