ARHGAP42 - Rho GTPase activating protein 42 Gene
Also Known as AD031; GRAF3; TMEM133
Species: Homo sapiens
About ARHGAP42
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 |
ARHGAP42 Protein Structure
RhoGAP: RhoGAP domain (397 - 545)
SH3_9: Variant SH3 domain (824 - 871)
- 0
- 200
- 400
- 600
- 800
- 874 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
rho GTPase-activating protein 42 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Pontocerebellar Hypoplasia, Type 8 |
|
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| Pontocerebellar Hypoplasia, Type 1a |
|
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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 |