AP1G2: Adaptor Related Protein Complex 1 Subunit Gamma 2
A key component of the AP-1 clathrin adaptor complex involved in intracellular vesicle trafficking and protein sorting.
Gene Information Card
| Symbol | AP1G2 |
|---|---|
| Full Name | Adaptor Related Protein Complex 1 Subunit Gamma 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 14q11.2 |
| NCBI Gene ID | 8906 ncbi.nlm.nih.gov/gene/8906 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | O75843 |
| OMIM ID | 603533 |
| HGNC ID | 560 |
| Aliases | ADTG, gamma2-adaptin, AP-1 complex subunit gamma-2 |
Description
AP1G2 encodes the gamma-2 subunit of the heterotetrameric adaptor protein complex 1 (AP-1). AP-1 is involved in clathrin-dependent vesicle trafficking between the trans-Golgi network and endosomes. The gamma-2 subunit is essential for cargo recognition and vesicle formation. Alternative splicing generates multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | N/A | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 6.1 | Low |
| Liver | 4.7 | Low |
| Kidney | 5.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.2 | Moderate expression |
| HeLa | 8.5 | Moderate expression |
| K562 | 6.0 | Low expression |
| A549 | 7.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | missense | <0.01% (gnomAD) | Unknown functional effect |
| c.567_568del (p.Glu190fs) | frameshift | <0.001% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Glu190fs) are predicted to cause loss of function by truncating the protein.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • clathrin adaptor activity | • intracellular protein transport |
| • vesicle-mediated transport | • Golgi to endosome transport |
| • protein binding |
Pathways
• Clathrin-mediated endocytosis
• AP-1 complex-mediated transport
Protein Summary
AP1G2 encodes the gamma-2 subunit of the AP-1 adaptor complex. This 822-amino acid protein contains an N-terminal trunk domain, a flexible hinge region, and a C-terminal ear domain. It interacts with clathrin and accessory proteins to facilitate cargo sorting and vesicle budding. The protein is ubiquitously expressed with highest levels in testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AP1G2 Knockout HEK293 Cell Line | EDJ-KQ6391 | Human | 8906 | Details Get a Quote |
| AP1G2 Knockout A-549 Cell Line | EDJ-KQ30412 | Human | 8906 | Details Get a Quote |
| AP1G2 Knockout HCT 116 Cell Line | EDJ-KQ30413 | Human | 8906 | Details Get a Quote |
| AP1G2 Knockout HeLa Cell Line | EDJ-KQ30414 | Human | 8906 | Details Get a Quote |
