AGAP3
ArfGAP with GTPase domain, ankyrin repeat and PH domain 3
Gene Information Card
| Symbol | AGAP3 |
|---|---|
| Full Name | ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 7q36.1 |
| NCBI Gene ID | 116988 ncbi.nlm.nih.gov/gene/116988 |
| Ensembl ID | ENSG00000106333 |
| UniProt ID | Q96P47 |
| OMIM ID | 614512 |
| HGNC ID | 29317 |
| Aliases | AGAP-3, CENTG3, cnt-g3, FLJ13111, KIAA1441 |
Description
AGAP3 encodes a member of the AGAP subfamily of ArfGAP proteins. The protein contains an N-terminal GTPase domain, a pleckstrin homology (PH) domain, an ArfGAP domain, and ankyrin repeats. It functions as a GTPase-activating protein for Arf family small GTPases, regulating vesicle trafficking and cytoskeletal dynamics. AGAP3 is implicated in neuronal development and synaptic function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability | Disruption of AGAP3 may impair synaptic vesicle trafficking and neuronal signaling, leading to cognitive deficits. | ClinVar; PMID: 25356899 |
| Autism spectrum disorder | Rare variants in AGAP3 have been identified in ASD cohorts, suggesting a role in neurodevelopmental pathways. | ClinVar; PMID: 25363760 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Lung | 4.1 | Low |
| Heart | 3.2 | Low |
| Liver | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 10.2 | Neuroblastoma cell line |
| HEK293 | 6.8 | Embryonic kidney cells |
| HeLa | 4.5 | Cervical carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.187C>T (p.Arg63Trp) | Missense | 0.0001 | Loss of GAP activity; associated with intellectual disability |
| c.1024G>A (p.Glu342Lys) | Missense | 0.00005 | Altered protein stability; reported in ASD |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the ArfGAP domain reduce GTPase-activating activity, impairing Arf regulation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Some missense variants may act dominant-negative by sequestering binding partners.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005096 GTPase activator activity | • GO:0005515 protein binding |
| • GO:0005737 cytoplasm | • GO:0016192 vesicle-mediated transport |
| • GO:0030036 actin cytoskeleton organization | • GO:0045202 synapse |
Pathways
• Arf6 signaling pathway
• Vesicle-mediated transport
• Synaptic vesicle cycle
Protein Summary
AGAP3 is a multidomain protein (GTPase, PH, ArfGAP, ankyrin repeats) that acts as a GTPase-activating protein for Arf family small GTPases. It localizes to the cytoplasm and synapses, regulating vesicle trafficking and actin dynamics. Mutations are linked to neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AGAP3 Knockout HEK293 Cell Line | EDJ-KQ7590 | Human | 116988 | Details Get a Quote |
| AGAP3 Knockout A-549 Cell Line | EDJ-KQ32923 | Human | 116988 | Details Get a Quote |
| AGAP3 Knockout HCT 116 Cell Line | EDJ-KQ32924 | Human | 116988 | Details Get a Quote |
| AGAP3 Knockout HeLa Cell Line | EDJ-KQ32925 | Human | 116988 | Details Get a Quote |
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