ARHGAP11B
Rho GTPase Activating Protein 11B
Gene Information Card
| Symbol | ARHGAP11B |
|---|---|
| Full Name | Rho GTPase Activating Protein 11B |
| Gene Type | Protein coding |
| Chromosomal Location | 15q13.2 |
| NCBI Gene ID | 89886 ncbi.nlm.nih.gov/gene/89886 |
| Ensembl ID | ENSG00000213614 |
| UniProt ID | Q6ZUT3 |
| OMIM ID | 616310 |
| HGNC ID | 24037 |
| Aliases | ARHGAP11B, bA307O14.1 |
Description
ARHGAP11B is a human-specific gene that arose from partial duplication of ARHGAP11A. It encodes a Rho GTPase activating protein (GAP) that regulates Rho family GTPases. ARHGAP11B is critically involved in the expansion of the neocortex during human brain evolution by promoting basal progenitor proliferation and self-renewal. It is expressed in neural progenitor cells and plays a key role in cortical development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Altered expression in prefrontal cortex; potential role in neurodevelopmental pathways | Association study (PMID: 27569544) |
| Autism spectrum disorder | Copy number variants at 15q13.2 region including ARHGAP11B | CNV analysis (PMID: 25217958) |
| Intellectual disability | Deletion of 15q13.2 region encompassing ARHGAP11B | Case report (PMID: 23956177) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 0.5 | Low |
| Testis | 0.1 | Not detected |
| Heart | 0.0 | Not detected |
| Liver | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 0.3 | Low expression |
| HEK293 (embryonic kidney) | 0.0 | Not detected |
| Neural progenitor cells (fetal) | 1.2 | Moderate |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of start codon |
| c.154C>T (p.Arg52Trp) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
The human-specific duplication and expression pattern is considered a gain-of-function in evolutionary context.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activator activity (GO:0005096) | • signal transduction (GO:0007165) |
| • positive regulation of GTPase activity (GO:0043547) | • neurogenesis (GO:0022008) |
Pathways
• Rho GTPase cycle (Reactome: R-HSA-194840)
• Signaling by Rho GTPases (Reactome: R-HSA-194315)
Protein Summary
ARHGAP11B is a 267-amino acid protein containing a RhoGAP domain. It is highly expressed in fetal neural progenitors and promotes basal progenitor proliferation, contributing to neocortex expansion. Unlike its ancestral ARHGAP11A, ARHGAP11B has a C-terminal truncation that enhances its GAP activity and mitochondrial localization, which is critical for its role in brain development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARHGAP11B Knockout HEK293 Cell Line | EDJ-KQ10523 | Human | 89839 | Details Get a Quote |
| ARHGAP11B Knockout A-549 Cell Line | EDJ-KQ37939 | Human | 89839 | Details Get a Quote |
| ARHGAP11B Knockout HCT 116 Cell Line | EDJ-KQ37940 | Human | 89839 | Details Get a Quote |
| ARHGAP11B Knockout HeLa Cell Line | EDJ-KQ37941 | Human | 89839 | Details Get a Quote |
