Identity
HGNC
LOCATION
3q13.32
LOCUSID
ALIAS
AOS1,CDGAP
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 57514
MIM: 610911
HGNC: 29216
Ensembl: ENSG00000031081
Variants:
dbSNP: 57514
ClinVar: 57514
TCGA: ENSG00000031081
COSMIC: ARHGAP31
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000031081 | ENST00000264245 | Q2M1Z3 |
| ENSG00000031081 | ENST00000482743 | C9J652 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Signal Transduction | REACTOME | R-HSA-162582 |
| Signaling by Rho GTPases | REACTOME | R-HSA-194315 |
| Rho GTPase cycle | REACTOME | R-HSA-194840 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38790165 | 2024 | Characterization of a New Variant in ARHGAP31 Probably Involved in Adams-Oliver Syndrome in a Family with a Variable Phenotypic Spectrum. | 0 |
| 38790165 | 2024 | Characterization of a New Variant in ARHGAP31 Probably Involved in Adams-Oliver Syndrome in a Family with a Variable Phenotypic Spectrum. | 0 |
| 28135249 | 2017 | The Cdc42/Rac1 regulator CdGAP is a novel E-cadherin transcriptional co-repressor with Zeb2 in breast cancer. | 27 |
| 28135249 | 2017 | The Cdc42/Rac1 regulator CdGAP is a novel E-cadherin transcriptional co-repressor with Zeb2 in breast cancer. | 27 |
| 24632816 | 2014 | The focal adhesion-localized CdGAP regulates matrix rigidity sensing and durotaxis. | 31 |
| 24668619 | 2014 | Isolated terminal limb reduction defects: extending the clinical spectrum of Adams-Oliver syndrome and ARHGAP31 mutations. | 10 |
| 24632816 | 2014 | The focal adhesion-localized CdGAP regulates matrix rigidity sensing and durotaxis. | 31 |
| 24668619 | 2014 | Isolated terminal limb reduction defects: extending the clinical spectrum of Adams-Oliver syndrome and ARHGAP31 mutations. | 10 |
| 22518840 | 2012 | A stretch of polybasic residues mediates Cdc42 GTPase-activating protein (CdGAP) binding to phosphatidylinositol 3,4,5-trisphosphate and regulates its GAP activity. | 10 |
| 22907917 | 2012 | CdGAP regulates cell migration and adhesion dynamics in two-and three-dimensional matrix environments. | 12 |
| 22518840 | 2012 | A stretch of polybasic residues mediates Cdc42 GTPase-activating protein (CdGAP) binding to phosphatidylinositol 3,4,5-trisphosphate and regulates its GAP activity. | 10 |
| 22907917 | 2012 | CdGAP regulates cell migration and adhesion dynamics in two-and three-dimensional matrix environments. | 12 |
| 21565291 | 2011 | Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies. | 44 |
| 21774070 | 2011 | Genetic cause of rare disease may be involved in more common birth defects. | 0 |
| 21565291 | 2011 | Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies. | 44 |
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)
