1. Gene
  2. ARHGAP6 - Rho GTPase activating protein 6 Gene

ARHGAP6 - Rho GTPase activating protein 6 Gene

Homo sapiens

Also known as RHOGAP6; RHOGAPX-1

Gene ID: 395 | Gene type: protein coding

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

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

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