AGAP6: ArfGAP with GTPase Domain, Ankyrin Repeat and PH Domain 6
A member of the AGAP family of GTPase-activating proteins involved in vesicle trafficking and cytoskeletal dynamics.
Gene Information Card
| Symbol | AGAP6 |
|---|---|
| Full Name | ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q22.2 |
| NCBI Gene ID | 100507205 ncbi.nlm.nih.gov/gene/100507205 |
| Ensembl ID | ENSG00000204176 |
| UniProt ID | A6NIR3 |
| OMIM ID | 615717 |
| HGNC ID | 37230 |
| Aliases | CTGLF6, dJ1103G7.5 |
Description
AGAP6 encodes a member of the AGAP family of GTPase-activating proteins (GAPs) that contain an N-terminal GTPase domain, a central ankyrin repeat region, and a C-terminal pleckstrin homology (PH) domain. The protein is predicted to function in the regulation of ADP-ribosylation factor (ARF) proteins, modulating vesicle trafficking and cytoskeletal organization. AGAP6 is expressed in multiple tissues and may play a role in neuronal development and function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability | Potential role in neurodevelopmental pathways; limited direct evidence | ClinVar: uncertain significance variants reported |
| Autism spectrum disorder | Suggested by rare variant studies; not confirmed | PubMed: 25741868 |
| Cancer (general) | Altered expression in some tumors; no specific mechanism established | COSMIC: somatic mutations in various cancers |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 2.1 | Low |
| Testis | 1.8 | Low |
| Lung | 0.9 | Not detected |
| Liver | 0.5 | Not detected |
| Kidney | 0.7 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 1.2 | Low expression |
| SH-SY5Y | 2.5 | Moderate expression in neuronal cell line |
| HeLa | 0.8 | Low expression |
| K562 | 0.3 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function predicted |
| c.567G>A (p.Trp189*) | Nonsense | <0.01% | Loss of function predicted |
| c.890A>G (p.Tyr297Cys) | Missense | <0.01% | Uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg412*, p.Trp189*) are predicted to cause loss of function via nonsense-mediated decay or truncated protein.
Gain of Function (GOF)
No gain-of-function mutations have been reported for AGAP6.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for AGAP6.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005096 - GTPase activator activity | • GO:0005525 - GTP binding |
| • GO:0032012 - regulation of ARF protein signal transduction | • GO:0016192 - vesicle-mediated transport |
| • GO:0005737 - cytoplasm |
Pathways
• ARF GTPase cycle (Reactome: R-HSA-9007101)
• Vesicle-mediated transport (Reactome: R-HSA-5653656)
Protein Summary
AGAP6 is a 1,012-amino acid protein that contains an N-terminal GTPase domain, a central ankyrin repeat region, and a C-terminal PH domain. It is predicted to act as a GTPase-activating protein for ARF family small GTPases, thereby regulating vesicle trafficking and cytoskeletal dynamics. The protein is localized to the cytoplasm and is expressed at low levels in brain and testis. Structural modeling suggests the PH domain mediates membrane binding, while the ankyrin repeats may facilitate protein-protein interactions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AGAP6 Knockout HEK293 Cell Line | EDJ-KQ52335 | Human | 414189 | Details Get a Quote |
| AGAP6 Knockout HeLa Cell Line | EDJ-KQ60360 | Human | 414189 | Details Get a Quote |
| AGAP6 Knockout A-549 Cell Line | EDJ-KQ68827 | Human | 414189 | Details Get a Quote |
| AGAP6 Knockout HCT 116 Cell Line | EDJ-KQ77191 | Human | 414189 | Details Get a Quote |
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