• Gene id: 143872

Gene Summary

• Gene Symbol: ARHGAP42   Gene   UCSC   Ensembl
• Aliases: AD031, GRAF3, TMEM133
• Gene name: Rho GTPase activating protein 42
• Alternate names: rho GTPase-activating protein 42, rho-type GTPase-activating protein 42, transmembrane protein 133,
• Gene location: 11q22.1 (100687287: 100993940)     Exons: 29     NC_000011.10
• Gene summary(Entrez): This gene encodes a Rho GTPase-activating protein (RhoGAP), and member of the GRAF or BAR-PH family of proteins. Expression of this gene is enriched in vascular smooth muscle cells and the encoded protein inhibits RhoA activity to regulate vascular tone a
• OMIM: 610627

Protein Summary

• Protein general information: A6NI28  
  • Name: Rho GTPase activating protein 42 (Rho GTPase activating protein 10 like) (Rho type GTPase activating protein 42)
  • Length: 874  
  • Mass: 98569
  • Tissue specificity: Highly and selectively expressed in smooth muscle cells. {ECO
• Sequence:

  MGLPTLEFSDSYLDSPDFRERLQCHEIELERTNKFIKELIKDGSLLIGALRNLSMAVQKFSQSLQDFQFECIGDA
  ETDDEISIAQSLKEFARLLIAVEEERRRLIQNANDVLIAPLEKFRKEQIGAAKDGKKKFDKESEKYYSILEKHLN
  LSAKKKESHLQEADTQIDREHQNFYEASLEYVFKIQEVQEKKKFEFVEPLLSFLQGLFTFYHEGYELAQEFAPYK
  QQLQFNLQNTRNNFESTRQEVERLMQRMKSANQDYRPPSQWTMEGYLYVQEKRPLGFTWIKHYCTYDKGSKTFTM
  SVSEMKSSGKMNGLVTSSPEMFKLKSCIRRKTDSIDKRFCFDIEVVERHGIITLQAFSEANRKLWLEAMDGKEPI
  YTLPAIISKKEEMYLNEAGFNFVRKCIQAVETRGITILGLYRIGGVNSKVQKLMNTTFSPKSPPDIDIDIELWDN
  KTITSGLKNYLRCLAEPLMTYKLHKDFIIAVKSDDQNYRVEAVHALVHKLPEKNREMLDILIKHLVKVSLHSQQN
  LMTVSNLGVIFGPTLMRAQEETVAAMMNIKFQNIVVEILIEHYEKIFHTAPDPSIPLPQPQSRSGSRRTRAICLS
  TGSRKPRGRYTPCLAEPDSDSYSSSPDSTPMGSIESLSSHSSEQNSTTKSASCQPREKSGGIPWIATPSSSNGQK
  SLGLWTTSPESSSREDATKTDAESDCQSVASVTSPGDVSPPIDLVKKEPYGLSGLKRASASSLRSISAAEGNKSY
  SGSIQSLTSVGSKETPKASPNPDLPPKMCRRLRLDTASSNGYQRPGSVVAAKAQLFENVGSPKPVSSGRQAKAMY
  SCKAEHSHELSFPQGAIFSNVYPSVEPGWLKATYEGKTGLVPENYVVFL

• Structural information:
  • Protein Domains: (7..26-)
    (/note="BAR-)
    (265..37-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145-)
    (376..57-)
    (/note="Rho-GAP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00172-)
    (816..87-)
    (/note="SH3-)
    (/evidence="ECO:0000255|PROS-)
  • Interpro: IPR027267  IPR011993  IPR001849  IPR008936  IPR000198   IPR036028  IPR001452  
  • Prosite: PS50003 PS50238 PS50002
  • STRING: ENSP00000298815
• Other Databases: GeneCards:  ARHGAP42  Malacards:  ARHGAP42

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005096	GTPase activator activity	IBA	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0035024	negative regulation of Rho protein signal transduction	IEA	biological process
GO:0005096	GTPase activator activity	IEA	molecular function
GO:1904694	negative regulation of vascular smooth muscle contraction	IEA	biological process
GO:0003085	negative regulation of systemic arterial blood pressure	IEA	biological process
GO:0005096	GTPase activator activity	IDA	molecular function
GO:0090630	activation of GTPase activity	IDA	biological process
GO:0005575	cellular_component	ND	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq