ARHGAP44
Rho GTPase Activating Protein 44
Gene Information Card
| Symbol | ARHGAP44 |
|---|---|
| Full Name | Rho GTPase Activating Protein 44 |
| Gene Type | protein-coding |
| Chromosomal Location | 17p12 |
| NCBI Gene ID | 9912 ncbi.nlm.nih.gov/gene/9912 |
| Ensembl ID | ENSG00000108576 |
| UniProt ID | Q17R89 |
| OMIM ID | 617786 |
| HGNC ID | 29085 |
| Aliases | RICH2, SH3BP1, KIAA0672 |
Description
ARHGAP44 (Rho GTPase Activating Protein 44) encodes a member of the RhoGAP family of proteins that negatively regulate Rho GTPases by catalyzing the hydrolysis of GTP to GDP. The protein contains an N-terminal F-BAR domain and a C-terminal RhoGAP domain, and is involved in actin cytoskeleton remodeling, dendritic spine morphogenesis, and synaptic plasticity. It is highly expressed in the brain and plays a role in neuronal development and function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability (autosomal dominant) | Loss-of-function variants in ARHGAP44 impair RhoGAP activity, leading to altered dendritic spine density and synaptic dysfunction. | ClinVar, OMIM |
| Autism spectrum disorder | Rare missense variants may disrupt F-BAR domain-mediated membrane curvature and spine maturation. | ClinVar, literature |
| Schizophrenia | Common variants in ARHGAP44 associated with altered prefrontal cortex connectivity and synaptic pruning. | GWAS catalog, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | High |
| Brain (cerebellum) | 8.3 | Medium |
| Testis | 4.1 | Low |
| Heart | 1.2 | Not detected |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression; used in neuronal differentiation studies |
| HEK293 (embryonic kidney) | 2.1 | Low endogenous expression |
| U-87 MG (glioblastoma) | 9.8 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.01% | Loss of RhoGAP activity; associated with intellectual disability |
| c.567_569del (p.Glu189del) | In-frame deletion | <0.001% | Disrupts F-BAR domain; altered membrane curvature |
| c.2101G>A (p.Gly701Arg) | Missense | 0.02% | Reduced protein stability; reported in autism spectrum disorder |
Mutation functional classification
Loss of Function (LOF)
Missense and truncating variants in the RhoGAP domain that impair GTPase-activating activity, leading to increased Rho GTPase signaling and aberrant actin dynamics.
Gain of Function (GOF)
Not reported in ARHGAP44.
Dominant Negative (DN)
Deletion in the F-BAR domain may interfere with wild-type protein function in membrane curvature regulation.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Rho GTPase cycle (Reactome: R-HSA-194840)
• Signaling by Rho GTPases (Reactome: R-HSA-194315)
• Regulation of actin dynamics for phagocytic cup formation (Reactome: R-HSA-2029485)
Protein Summary
ARHGAP44 is a 749-amino acid protein with an N-terminal F-BAR domain that mediates membrane binding and curvature, and a C-terminal RhoGAP domain that inactivates Rho GTPases (e.g., Rac1, Cdc42). It localizes to the postsynaptic density and regulates dendritic spine morphology and synaptic transmission. Alternative splicing generates multiple isoforms.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARHGAP44 Knockout HEK293 Cell Line | EDJ-KQ6814 | Human | 9912 | Details Get a Quote |
| ARHGAP44 Knockout A-549 Cell Line | EDJ-KQ31330 | Human | 9912 | Details Get a Quote |
| ARHGAP44 Knockout HCT 116 Cell Line | EDJ-KQ31331 | Human | 9912 | Details Get a Quote |
| ARHGAP44 Knockout HeLa Cell Line | EDJ-KQ31332 | Human | 9912 | Details Get a Quote |
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