ACAP2: ArfGAP with Coiled-Coil, Ankyrin Repeat and PH Domains 2
A key regulator of vesicular trafficking and cell signaling, implicated in cancer and neurological disorders.
Gene Information Card
| Symbol | ACAP2 |
|---|---|
| Full Name | ArfGAP with Coiled-Coil, Ankyrin Repeat and PH Domains 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q29 |
| NCBI Gene ID | 23527 ncbi.nlm.nih.gov/gene/23527 |
| Ensembl ID | ENSG00000114331 |
| UniProt ID | Q15057 |
| OMIM ID | 607793 |
| HGNC ID | 23198 |
| Aliases | CENTB2, KIAA0041, FLJ10895 |
Description
ACAP2 (ArfGAP with Coiled-Coil, Ankyrin Repeat and PH Domains 2) encodes a member of the ACAP family of ArfGAP proteins. It functions as a GTPase-activating protein (GAP) for ADP-ribosylation factors (Arfs), regulating vesicular trafficking, endocytosis, and cell signaling. ACAP2 is involved in neurite outgrowth, cell migration, and is implicated in cancer and neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of ACAP2 expression alters Arf-mediated signaling, promoting cell proliferation and migration. | COSMIC, literature |
| Neurodevelopmental disorders | ACAP2 variants may disrupt neurite outgrowth and synaptic function. | ClinVar, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.2 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.8 | Low |
| Testis | 15.3 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Embryonic kidney cells |
| SH-SY5Y | 14.7 | Neuroblastoma cells |
| A549 | 7.5 | Lung carcinoma cells |
| MCF7 | 6.8 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.01% | Altered GAP activity |
| c.567_568insA (p.Glu190Argfs*12) | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein, impairing ArfGAP activity.
Gain of Function (GOF)
Not well characterized; some missense variants may enhance GAP activity.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activator activity | • Arf GTPase activator activity |
| • vesicle-mediated transport | • endocytosis |
| • cell migration | • neuron projection development |
Pathways
• Arf6 signaling pathway
• Endocytosis
• Vesicular trafficking
Protein Summary
ACAP2 is a 778-amino acid protein containing an N-terminal coiled-coil domain, a central ArfGAP domain, a pleckstrin homology (PH) domain, and C-terminal ankyrin repeats. It specifically inactivates Arf6 by promoting GTP hydrolysis, thereby regulating endocytic recycling and actin remodeling. The protein is widely expressed, with highest levels in brain and testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACAP2 Knockout HEK293 Cell Line | EDJ-KQ8045 | Human | 23527 | Details Get a Quote |
| ACAP2 Knockout A-549 Cell Line | EDJ-KQ33850 | Human | 23527 | Details Get a Quote |
| ACAP2 Knockout HCT 116 Cell Line | EDJ-KQ33851 | Human | 23527 | Details Get a Quote |
| ACAP2 Knockout HeLa Cell Line | EDJ-KQ33852 | Human | 23527 | Details Get a Quote |
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