ADAP2 (ArfGAP with Dual PH Domains 2)
Gene encoding a GTPase-activating protein involved in vesicle trafficking and cytoskeletal regulation
Gene Information Card
| Symbol | ADAP2 |
|---|---|
| Full Name | ArfGAP with Dual PH Domains 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q11.2 |
| NCBI Gene ID | 55803 ncbi.nlm.nih.gov/gene/55803 |
| Ensembl ID | ENSG00000108469 |
| UniProt ID | Q9NPF4 |
| OMIM ID | 608635 |
| HGNC ID | 16487 |
| Aliases | CENTA2, CNT-A2, centaurin alpha 2 |
Description
ADAP2 encodes a member of the centaurin family of GTPase-activating proteins (GAPs) that specifically regulate ADP-ribosylation factor (Arf) small GTPases. The protein contains two pleckstrin homology (PH) domains and an ArfGAP domain, and is involved in endocytosis, vesicle trafficking, and actin cytoskeleton remodeling. ADAP2 is expressed in multiple tissues and has been implicated in immune cell function and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | ADAP2 overexpression may promote cell migration and invasion through Arf6 regulation | COSMIC, literature |
| Glioblastoma | Altered ADAP2 expression linked to tumor progression | COSMIC, literature |
| Immunodeficiency | Potential role in T-cell receptor signaling and immune synapse formation | OMIM, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Spleen | 15.2 | Medium |
| Testis | 20.1 | High |
| Kidney | 6.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.4 | Embryonic kidney cells |
| HeLa | 8.9 | Cervical cancer cells |
| Jurkat | 14.2 | T-cell leukemia line |
| MCF7 | 7.1 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | 0.01% | Unknown functional effect |
| c.457G>A (p.Glu153Lys) | Missense | 0.005% | Potential loss of GAP activity |
| c.789_790insA | Frameshift | <0.001% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations predicted to truncate the protein, disrupting ArfGAP domain.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005096 - GTPase activator activity | • GO:0005515 - protein binding |
| • GO:0005546 - phosphatidylinositol-4 | • 5-bisphosphate binding |
| • GO:0005737 - cytoplasm | • GO:0006886 - intracellular protein transport |
| • GO:0016197 - endosomal transport | • GO:0030036 - actin cytoskeleton organization |
| • GO:0043547 - positive regulation of GTPase activity |
Pathways
• Arf6 signaling pathway
• Endocytosis
• Fc gamma receptor-mediated phagocytosis
• Regulation of actin cytoskeleton
Protein Summary
ADAP2 (centaurin alpha 2) is a 373-amino acid protein containing an N-terminal ArfGAP domain and two C-terminal PH domains. It acts as a GTPase-activating protein for Arf1 and Arf6, regulating membrane trafficking and cytoskeletal dynamics. The protein localizes to the cytoplasm and endosomal membranes, and is involved in receptor endocytosis, cell adhesion, and migration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADAP2 Knockout HEK293 Cell Line | EDJ-KQ11527 | Human | 55803 | Details Get a Quote |
| ADAP2 Knockout A-549 Cell Line | EDJ-KQ41090 | Human | 55803 | Details Get a Quote |
| ADAP2 Knockout HCT 116 Cell Line | EDJ-KQ41091 | Human | 55803 | Details Get a Quote |
| ADAP2 Knockout HeLa Cell Line | EDJ-KQ41092 | Human | 55803 | Details Get a Quote |
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