1. Gene
  2. ARHGAP12 - Rho GTPase activating protein 12 Gene

ARHGAP12 - Rho GTPase activating protein 12 Gene

Homo sapiens
Gene ID: 94134 | Gene type: protein coding

About ARHGAP12

Cytogenetic location: 10p11.22 Genomic coordinates (GRCh38): 10:31,805,398-31,928,876 (from NCBI)

This gene has 10 transcripts (splice variants), 276 orthologues and 3 paralogues. Ubiquitous expression in stomach (RPKM 14.4), brain (RPKM 12.6) and 25 other tissues.

Summary

This gene encodes a member of a large family of proteins that activate Rho-type guanosine triphosphate (GTP) metabolizing enzymes. The encoded protein may be involved in suppressing tumor formation by regulating cell invasion and adhesion. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]

ARHGAP12 Products(6)

mRNA Protein Name
NM_001270695.1 NP_001257624.1 rho GTPase-activating protein 12 isoform 2
NM_001270696.2 NP_001257625.1 rho GTPase-activating protein 12 isoform 3
NM_001270697.1 NP_001257626.1 rho GTPase-activating protein 12 isoform 4
NM_001270698.2 NP_001257627.1 rho GTPase-activating protein 12 isoform 5
NM_001270699.1 NP_001257628.1 rho GTPase-activating protein 12 isoform 6
NM_018287.7 NP_060757.4 rho GTPase-activating protein 12 isoform 1

ARHGAP12 Protein Structure

SH3_9

SH3_9: Variant SH3 domain (19 - 70)

WW

WW: WW domain (269 - 296)

PH

PH: PH domain (481 - 573)

RhoGAP

RhoGAP: RhoGAP domain (670 - 818)

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  • 846 a.a.
Protein Preferred Names Protein Names

rho GTPase-activating protein 12

rho-type GTPase-activating protein 12

Related Diseases

Diseases Alias
Waardenburg Syndrome, Type 4a

Waardenburg-Shah Syndrome

Shah-Waardenburg Syndrome

Waardenburg Syndrome Type 4a

WS4A

Ws4

Waardenburg Syndrome Type 4

Waardenburg Syndrome Type Iva

Waardenburg Syndrome With Hirschsprung Disease Type 4a

Hirschsprung Disease With Pigmentary Anomaly

Waardenburg-Hirschsprung Syndrome

Waardenburg Syndrome, Type Iva

Waardenburg Syndrome With Hirschsprung Disease, Type 4a

Waardenburg-Hirschsprung Disease

Waardenburg Syndrome, Type 4

Waardenburg Syndrome 4a

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
Canis familiaris ARHGAP12 VGNC VGNC:38046
Felis catus ARHGAP12 VGNC VGNC:59875
Rattus norvegicus ARHGAP12 RGD RGD:1310017
Bos taurus ARHGAP12 VGNC VGNC:26075
Macaca mulatta ARHGAP12 VGNC VGNC:69842
Mus musculus ARHGAP12 MGD MGI:1922665