ARHGAP42 - Rho GTPase activating protein 42 Gene

Also Known as AD031; GRAF3; TMEM133

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 143872

About ARHGAP42

Cytogenetic location: 11q22.1 Genomic coordinates (GRCh38): 11:100,687,288-100,993,941 (from NCBI)

This gene has 9 transcripts (splice variants), 268 orthologues and 3 paralogues. Ubiquitous expression in placenta (RPKM 4.3), thyroid (RPKM 3.5) and 24 other tissues.

Summary

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 and control blood pressure. A mutation in the first intron of this gene modulates its expression and is associated with reduced blood pressure in human patients with borderline hypertension. [provided by RefSeq, Jul 2017]

ARHGAP42 Products (2)

mRNA Protein Name
NM_001367945.1 NP_001354874.1 rho GTPase-activating protein 42 isoform 2
NM_152432.4 NP_689645.2 rho GTPase-activating protein 42 isoform 1
Molecular Function GO Annotation Evidence References Source
enables GTPase activator activity IDA
IDA: Inferred from direct assay
24335996 GOA
Biological Process GO Annotation Evidence References Source
involved in activation of GTPase activity IDA
IDA: Inferred from direct assay
24335996 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ARHGAP42 Protein Structure

RhoGAP

RhoGAP: RhoGAP domain (397 - 545)

SH3_9

SH3_9: Variant SH3 domain (824 - 871)

  • 0
  • 200
  • 400
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  • 800
  • 874 a.a.
Protein Preferred Names Protein Names

rho GTPase-activating protein 42

  • rho-type GTPase-activating protein 42

Related Diseases

Diseases Alias
Pontocerebellar Hypoplasia, Type 8
  • Pontocerebellar Hypoplasia Type 8

  • PCH8

  • Pontocerebellar Hypoplasia Due To Chmp1a Mutation

  • Pontocerebellar Hypoplasia 8

  • Hypoplasia, Pontocerebellar, Type 8

Pontocerebellar Hypoplasia, Type 1a
  • Pontocerebellar Hypoplasia Type 1a

  • PCH1A

  • Pontocerebellar Hypoplasia With Infantile Spinal Muscular Atrophy

  • Pontocerebellar Hypoplasia With Anterior Horn Cell Disease

  • Pch1

  • Pontocerebellar Hypoplasia 1a

  • Hypoplasia, Pontocerebellar, Type 1a

  • Pontocerebellar Hypoplasia Type 1

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus ARHGAP42 VGNC VGNC:26096
Macaca mulatta ARHGAP42 VGNC VGNC:99546
Rattus norvegicus ARHGAP42 RGD RGD:1564081
Felis catus ARHGAP42 VGNC VGNC:81904
Mus musculus ARHGAP42 MGD MGI:1918794
Canis familiaris ARHGAP42 VGNC VGNC:38064
Others ARHGAP42 NCBI