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ARHGAP12 - Rho GTPase activating protein 12 Gene

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 94134

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in actin filament organization	IMP IMP: Inferred from mutant phenotype	26465210	GOA
involved in morphogenesis of an epithelial sheet	IMP IMP: Inferred from mutant phenotype	23201090	GOA
involved in negative regulation of small GTPase mediated signal transduction	IMP IMP: Inferred from mutant phenotype	26465210	GOA
involved in phagocytosis, engulfment	IMP IMP: Inferred from mutant phenotype	26465210	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in phagocytic cup	IDA IDA: Inferred from direct assay	26465210	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

ARHGAP12 Protein Structure

SH3_9

RhoGAP

0
200
400
600
800
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00915	ARHGAP12 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

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
Others	ARHGAP12	NCBI