ARHGAP6 - Rho GTPase activating protein 6 Gene

Also Known as RHOGAP6; RHOGAPX-1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 395

About ARHGAP6

Cytogenetic location: Xp22.2 Genomic coordinates (GRCh38): X:11,137,544-11,665,920 (from NCBI)

This gene has 9 transcripts (splice variants), 269 orthologues and 1 paralogue. Broad expression in prostate (RPKM 12.6), thyroid (RPKM 10.2) and 18 other tissues.

Summary

This gene encodes a member of the rhoGAP family of proteins which play a role in the regulation of actin polymerization at the plasma membrane during several cellular processes. This protein is thought to have two independent functions, one as a GTPase-activating protein with specificity for RhoA, and another as a cytoskeletal protein that promotes actin remodeling. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

ARHGAP6 Products (4)

mRNA Protein Name
NM_001287242.2 NP_001274171.1 rho GTPase-activating protein 6 isoform 6
NM_006125.3 NP_006116.2 rho GTPase-activating protein 6 isoform 3
NM_013423.3 NP_038267.1 rho GTPase-activating protein 6 isoform 4
NM_013427.3 NP_038286.2 rho GTPase-activating protein 6 isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables phospholipase activator activity IDA
IDA: Inferred from direct assay
18434237 GOA
enables phospholipase binding IPI
IPI: Inferred from physical interaction
18434237 GOA
Biological Process GO Annotation Evidence References Source
involved in negative regulation of focal adhesion assembly IMP
IMP: Inferred from mutant phenotype
10699171 GOA
involved in negative regulation of stress fiber assembly IMP
IMP: Inferred from mutant phenotype
10699171 GOA
involved in positive regulation of phospholipase activity IDA
IDA: Inferred from direct assay
18434237 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IMP
IMP: Inferred from mutant phenotype
10699171 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

ARHGAP6 Protein Structure

RhoGAP

RhoGAP: RhoGAP domain (411 - 569)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 974 a.a.
Protein Preferred Names Protein Names

rho GTPase-activating protein 6

  • Rho-type GTPase-activating protein RhoGAPX-1

Related Diseases

Diseases Alias
Amelogenesis Imperfecta, Type Ie

  • Aih1

  • Amelogenesis Imperfecta Type 1e

  • AI1E

  • Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 1

  • Amelogenesis Imperfecta, Hypomaturation Type, With Snow-Capped Teeth

  • Enamel Hypoplasia, X-Linked

  • Amelogenesis Imperfecta Type Ie

  • Amelogenesis Imperfecta Hypoplastic/Hypomaturation X-Linked 1

  • Enamel Hypoplasia X-Linked

  • Amelogenesis Imperfecta, X-Linked 1

  • Amelogenesis Imperfecta, Type 1e

  • Amelogenesis Imperfecta Hypomaturationtype With Snow-Capped Teeth

  • X-Linked Amelogenesis Imperfecta 1

  • X-Linked Amelogenesis Imperfecta Hypoplastic/Hypomaturation 1

  • X-Linked Enamel Hypoplasia

  • Amelogenesis Imperfecta X-Linked 1

  • Amelogenesis Imperfecta 1e

  • Amelogenesis Imperfecta, Hypoplastic/Hypomaturation Type 1e

  • Amelogenesis Imperfecta Hypomaturation Type With Snow-Capped Teeth

  • Xai

  • X-Linked Amelogenesis Imperfecta

  • Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis Imperfecta

  • Ai

  • Congenital Enamel Hypoplasia

  • Al - [Amelogenesis Imperfecta]
Linear Skin Defects With Multiple Congenital Anomalies 1

  • Midas Syndrome

  • Mcops7

  • Mls Syndrome

  • Microphthalmia, Syndromic 7

  • Microphthalmia With Linear Skin Defects Syndrome

  • Microphthalmia With Linear Skin Defects

  • Microphthalmia-Dermal Aplasia-Sclerocornea Syndrome

  • Syndromic Microphthalmia Type 7

  • LSDMCA1

  • Mls

  • Microphthalmia, Dermal Aplasia, And Sclerocornea

  • Microphthalmia With Linear Skin Defect Syndrome

  • Syndromic Microphthalmia 7

  • Linear Skin Defects With Multiple Congenital Anomalies

  • Microphthalmia, Dermal Aplasia, Sclerocornea Syndrome

  • Microphthalmia Dermal Aplasia And Sclerocornea Syndrome

  • Micropthalmia Syndromic 7

  • Microphthalmia Syndromic 7

  • Microphthalmia With Linear Skin Lesions Syndrome

  • Syndromic Microphthalmia-7

  • Microphthalmia, Dermal Aplasia And Sclerocornea

  • Microphthalmia, Syndromic, 7

  • Midas
Microphthalmia

  • Microphthalmos

  • Isolated Anophthalmia-Microphthalmia Syndrome

  • Isolated Microphthalmia-Anophthalmia-Coloboma

  • Simple Microphthalmos

  • Clinical Anophthalmia

  • Isolated Anophthalmia - Microphthalmia

  • Isolated Pure Microphthalmia

  • Mac Spectrum

  • Microphthalmia-Anophthalmia-Coloboma Spectrum

  • Primitive Anophthalmia

  • Globe Of Eye Small

  • Small Eyeball

  • Hypoplasia Of Eye

  • Isolated Nanophthalmos

  • Rudimentary Eye

  • Dysplasia Of Eye
Linear Skin Defects With Multiple Congenital Anomalies 3

  • LSDMCA3

  • Linear Skin Defects With Cardiomyopathy And Other Congenital Anomalies

  • Skin Defects, Linear, With Multiple Congenital Anomalies, Type 3
Orbital Cyst
Sclerocornea

  • Isolated Congenital Sclerocornea
Diffuse Gastric Cancer

  • Hereditary Diffuse Gastric Adenocarcinoma

  • Hereditary Diffuse Gastric Cancer

  • Signet Cell Adenocarcinoma

  • Signet Ring Cell Carcinoma

  • Signet Ring Cell Gastric Carcinoma

  • Signet Ring Gastric Carcinoma

  • Fdgc

  • Familial Diffuse Cancer Of Stomach

  • Familial Diffuse Gastric Cancer

  • Gastric Cancer, Familial Diffuse

  • Gastric Cancer, Hereditary Diffuse

  • Hdgc

  • Hereditary Diffuse Cancer Of Stomach

  • Diffuse Gastric Cancer Syndrome

  • Cancer, Gastric, Diffuse

  • Carcinoma, Signet Ring Cell

  • Gastric Signet Ring Carcinoma
Diffuse Gastric And Lobular Breast Cancer Syndrome

  • Hereditary Diffuse Gastric Cancer

  • HDGC

  • LBC

  • Familial Diffuse Gastric Cancer

  • Fdgc

  • Hereditary Diffuse Gastric Adenocarcinoma

  • Breast Cancer, Lobular

  • Gastric Cancer, Familial Diffuse, And Cleft Lip With Or Without Cleft Palate

  • DGLBC

  • Gastric Cancer, Hereditary Diffuse

  • Gastric Cancer, Familial Diffuse Breast Cancer, Lobular

  • Diffuse Gastric And Lobular Breast Cancer Syndrome With Or Without Cleft Lip And/Or Palate

  • E-Cadherin-Associated Hereditary Gastric Cancer

  • Familial Diffuse Cancer Of Stomach

  • Hereditary Diffuse Cancer Of Stomach

  • Gastric Cancer Familial Diffuse

  • Gastric Cancer Familial Diffuse And Cleft Lip With Or Without Cleft Palate

  • Cancer, Gastric, Hereditary Diffuse
Gillespie Syndrome

  • GLSP

  • Aniridia, Cerebellar Ataxia And Mental Deficiency

  • Aniridia Cerebellar Ataxia Mental Deficiency

  • Aniridia, Cerebellar Ataxia, And Mental Retardation

  • Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome

  • Aniridia-Cerebellar Ataxia-Intellectual Disability

  • Aniridia-Cerebellar Ataxia-Mental Deficiency

  • Partial Aniridia-Cerebellar Ataxia-Oligophrenia

  • Aniridia, Cerebellar Ataxia, And Intellectual Disability
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-RS00940 ARHGAP6 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Mus musculus ARHGAP6 MGD MGI:1196332
Bos taurus ARHGAP6 VGNC VGNC:26099
Canis familiaris ARHGAP6 VGNC VGNC:38068
Macaca mulatta ARHGAP6 VGNC VGNC:70009
Felis catus ARHGAP6 VGNC VGNC:68123
Rattus norvegicus ARHGAP6 RGD RGD:2323364