ARHGAP31 (Rho GTPase activating protein 31)

2017-10-01  

Identity

HGNC
LOCATION
3q13.32
LOCUSID
ALIAS
AOS1,CDGAP
FUSION GENES

Other Information

Locus ID:

NCBI: 57514
MIM: 610911
HGNC: 29216
Ensembl: ENSG00000031081

Variants:

dbSNP: 57514
ClinVar: 57514
TCGA: ENSG00000031081
COSMIC: ARHGAP31

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000031081ENST00000264245Q2M1Z3
ENSG00000031081ENST00000482743C9J652

Expression (GTEx)

0
5
10
15
20
25
30

Pathways

PathwaySourceExternal ID
Signal TransductionREACTOMER-HSA-162582
Signaling by Rho GTPasesREACTOMER-HSA-194315
Rho GTPase cycleREACTOMER-HSA-194840

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
215652912011Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies.32
281352492017The Cdc42/Rac1 regulator CdGAP is a novel E-cadherin transcriptional co-repressor with Zeb2 in breast cancer.19
246328162014The focal adhesion-localized CdGAP regulates matrix rigidity sensing and durotaxis.17
197060302009Validation study of genetic associations with coronary artery disease on chromosome 3q13-21 and potential effect modification by smoking.15
165196282006The human orthologue of CdGAP is a phosphoprotein and a GTPase-activating protein for Cdc42 and Rac1 but not RhoA.12
229079172012CdGAP regulates cell migration and adhesion dynamics in two-and three-dimensional matrix environments.9
225188402012A stretch of polybasic residues mediates Cdc42 GTPase-activating protein (CdGAP) binding to phosphatidylinositol 3,4,5-trisphosphate and regulates its GAP activity.7
171584472007Glycogen synthase kinase-3 phosphorylates CdGAP at a consensus ERK 1 regulatory site.6
246686192014Isolated terminal limb reduction defects: extending the clinical spectrum of Adams-Oliver syndrome and ARHGAP31 mutations.6
217740702011Genetic cause of rare disease may be involved in more common birth defects.0

Citation

Dessen P

ARHGAP31 (Rho GTPase activating protein 31)

Atlas Genet Cytogenet Oncol Haematol. 2017-10-01

Online version: http://atlasgeneticsoncology.org/gene/57214/arhgap31-(rho-gtpase-activating-protein-31)