ARHGAP31
Rho GTPase Activating Protein 31
Gene Information Card
| Symbol | ARHGAP31 |
|---|---|
| Full Name | Rho GTPase Activating Protein 31 |
| Gene Type | protein-coding |
| Chromosomal Location | 3q13.33 |
| NCBI Gene ID | 57514 ncbi.nlm.nih.gov/gene/57514 |
| Ensembl ID | ENSG00000163827 |
| UniProt ID | Q2M1Z3 |
| OMIM ID | 610911 |
| HGNC ID | 29216 |
| Aliases | CDGAP, RhoGAP, Cdc42GAP |
Description
ARHGAP31 encodes a Rho GTPase-activating protein (RhoGAP) that negatively regulates Rho family GTPases, particularly Cdc42 and Rac1. It plays a critical role in cytoskeletal dynamics, cell migration, and development. Mutations in ARHGAP31 are associated with Adams-Oliver syndrome, a rare genetic disorder characterized by scalp defects and limb abnormalities.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Adams-Oliver syndrome | Loss-of-function mutations impair RhoGAP activity, disrupting actin cytoskeleton and cell migration during development | OMIM #100300; PMID: 24635569 |
| Adams-Oliver syndrome 1 | Heterozygous truncating mutations lead to haploinsufficiency | ClinVar; PMID: 24635569 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 3.4 | Not detected |
| Kidney | 7.8 | Low |
| Testis | 15.3 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.2 | Moderate expression |
| HeLa | 8.5 | Low expression |
| K562 | 5.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1930C>T (p.Arg644*) | Nonsense | Rare | Loss of function; truncation |
| c.2053C>T (p.Arg685*) | Nonsense | Rare | Loss of function; truncation |
| c.2269C>T (p.Arg757*) | Nonsense | Rare | Loss of function; truncation |
Mutation functional classification
Loss of Function (LOF)
Truncating mutations (nonsense) lead to loss of RhoGAP activity, causing Adams-Oliver syndrome.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described; haploinsufficiency is the proposed mechanism.
View complete mutation data：
Gene Ontology (GO)
| • Rho GTPase activator activity | • GTPase activator activity |
| • cytoskeleton | • cell migration |
| • actin cytoskeleton organization |
Pathways
• Rho GTPase cycle
• Signaling by Rho GTPases
• RAC1 GTPase cycle
• CDC42 GTPase cycle
Protein Summary
ARHGAP31 encodes a 1449-amino acid protein containing a RhoGAP domain. It inactivates Cdc42 and Rac1 by stimulating their GTP hydrolysis, thereby regulating actin dynamics and cell adhesion. The protein is widely expressed, with highest levels in brain and testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARHGAP31 Knockout HEK293 Cell Line | EDJ-KQ12411 | Human | 57514 | Details Get a Quote |
| ARHGAP31 Knockout HCT 116 Cell Line | EDJ-KQ41315 | Human | 57514 | Details Get a Quote |
| ARHGAP31 Knockout HeLa Cell Line | EDJ-KQ56855 | Human | 57514 | Details Get a Quote |
| ARHGAP31 Knockout A-549 Cell Line | EDJ-KQ65368 | Human | 57514 | Details Get a Quote |
