ASAP2 Gene (ArfGAP with SH3 Domain, Ankyrin Repeat and PH Domain 2)
Comprehensive genomic and functional overview of ASAP2, a multi-domain Arf GTPase-activating protein involved in vesicle trafficking, cell migration, and cancer signaling.
Gene Information Card
| Symbol | ASAP2 |
|---|---|
| Full Name | ArfGAP with SH3 Domain, Ankyrin Repeat and PH Domain 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 2p25.1 |
| NCBI Gene ID | 8853 ncbi.nlm.nih.gov/gene/8853 |
| Ensembl ID | ENSG00000115977 |
| UniProt ID | O43150 |
| OMIM ID | 603817 |
| HGNC ID | 1491 |
| Aliases | CENTB2, PAG3, CNT-B2, AMAP2, DDEF2 |
Description
ASAP2 (ArfGAP with SH3 Domain, Ankyrin Repeat and PH Domain 2) encodes a multi-domain protein that functions as a GTPase-activating protein (GAP) for ADP-ribosylation factor (Arf) family members, particularly Arf1 and Arf5. The protein contains an N-terminal BAR domain, a PH domain, an ArfGAP domain, ankyrin repeats, and a C-terminal SH3 domain. ASAP2 localizes to the Golgi apparatus and plasma membrane, regulating vesicle trafficking, cell adhesion, and cytoskeletal dynamics. It is implicated in cancer cell migration, invasion, and metastasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | ASAP2 overexpression promotes cell migration and invasion via ArfGAP activity and focal adhesion turnover. | PMID: 19124614 |
| Colorectal Cancer | ASAP2 upregulation correlates with poor prognosis and enhanced metastatic potential. | PMID: 23541953 |
| Ovarian Cancer | ASAP2 expression is associated with tumor progression and chemoresistance. | PMID: 25695676 |
| Lung Cancer | ASAP2 contributes to EGFR-driven cell motility and invasion. | PMID: 21258369 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Breast | 7.4 | Low |
| Colon | 10.2 | Medium |
| Ovary | 11.8 | Medium |
| Testis | 15.6 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa (cervical cancer) | 14.2 | Moderate expression |
| MCF7 (breast cancer) | 9.8 | Low expression |
| A549 (lung cancer) | 11.5 | Moderate expression |
| HCT116 (colorectal cancer) | 13.1 | Moderate expression |
| HEK293 (embryonic kidney) | 8.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A (p.Glu412Lys) | Missense | <0.01% | Unknown; predicted benign by PolyPhen-2 |
| c.567_568insC (p.Leu190Profs*12) | Frameshift | <0.01% | Loss of function; truncation of GAP domain |
| c.2101C>T (p.Arg701*) | Nonsense | <0.01% | Loss of function; premature stop codon |
| c.789A>G (p.Ile263Met) | Missense | <0.01% | Unknown; predicted possibly damaging by SIFT |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations (e.g., p.Leu190Profs*12, p.Arg701*) lead to truncated protein lacking functional GAP or SH3 domains, impairing ArfGAP activity.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported in ASAP2.
Dominant Negative (DN)
No dominant-negative mutations have been described for ASAP2.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005096 - GTPase activator activity | • GO:0005515 - protein binding |
| • GO:0005794 - Golgi apparatus | • GO:0005886 - plasma membrane |
| • GO:0016192 - vesicle-mediated transport | • GO:0030036 - actin cytoskeleton organization |
| • GO:0030154 - cell differentiation | • GO:0043547 - positive regulation of GTPase activity |
Pathways
• Arf6 signaling pathway
• EGFR signaling pathway
• Focal adhesion pathway
• Vesicle trafficking (COPI/Clathrin)
Protein Summary
ASAP2 is a 1009-amino acid protein (UniProt O43150) with a molecular weight of ~112 kDa. It contains an N-terminal BAR domain (residues 1-200), a PH domain (201-300), an ArfGAP domain (301-450), four ankyrin repeats (451-600), and a C-terminal SH3 domain (900-1009). The BAR domain mediates membrane curvature sensing, the PH domain binds phosphoinositides, the ArfGAP domain catalyzes GTP hydrolysis on Arf1/Arf5, and the SH3 domain interacts with proline-rich partners such as Src and FAK. ASAP2 is involved in regulating endocytosis, cell spreading, and invadopodia formation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ASAP2 Knockout HEK293 Cell Line | EDJ-KQ6382 | Human | 8853 | Details Get a Quote |
| ASAP2 Knockout A-549 Cell Line | EDC90490 | Human | 8853 | Details Get a Quote |
| ASAP2 Knockout HCT 116 Cell Line | EDJ-KQ30391 | Human | 8853 | Details Get a Quote |
| ASAP2 Knockout HeLa Cell Line | EDJ-KQ30392 | Human | 8853 | Details Get a Quote |
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