2. Gene
  3. ARHGAP42 - Rho GTPase activating protein 42 Gene

ARHGAP42 - Rho GTPase activating protein 42 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as AD031; GRAF3; TMEM133

Gene ID: 143872 | Gene type: protein coding

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

ARHGAP42 Protein Structure

RhoGAP

RhoGAP: RhoGAP domain (397 - 545)

SH3_9

SH3_9: Variant SH3 domain (824 - 871)

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  • 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

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS00936 ARHGAP42 Human Pre-designed siRNA Set A / Unkown

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