AP2B1 Gene Summary [Human]
The protein encoded by this gene is one of two large chain components of the assembly protein complex 2, which serves to link clathrin to receptors in coated vesicles. The encoded protein is found on the cytoplasmic face of coated vesicles in the plasma membrane. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | AP2B1 |
| Official Name | adaptor related protein complex 2 subunit beta 1 [Source:HGNC Symbol;Acc:HGNC:563] |
| Ensembl ID | ENSG00000006125 |
| Bio databases IDs | |
| Aliases | adaptor related protein complex 2 subunit beta 1, beta2-adaptin |
| Synonyms | 1300012O03Rik, Adaptin Beta1/2, adaptor-related protein complex 2, beta 1 subunit, adaptor related protein complex 2 subunit beta 1, adaptor related protein complex 2 subunit β 1, adaptor-related protein complex 2, β 1 subunit, ADTB2, AI788979, AP105B, AP2-BETA, AP-2 Beta-2, AP-2 Beta2 Subunit, AP-2 subunit beta, AP-2 subunit β, AP-2 β, AP-2 β-2, CLAPB1, LOC100912146, LOC103690090 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human AP2B1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Armadillo/beta-catenin-like repeat
- clathrin binding domain
- Adaptin C-terminal domain
- protein binding activity, bridging
- clathrin binding
- protein binding
- HEAT repeats
- Beta2-adaptin appendage, C-terminal sub-domain
- appendage domain
- non-SMC mitotic condensation complex subunit 1
- binding protein
- ear domain
- Armadillo/beta-catenin-like repeats
- hinge domain
- Adaptin N terminal region
- beta-arrestin binding domain
- signal sequence binding
- trunk domain
- transporter
Pathways
Biological processes and signaling networks where the AP2B1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- schizophrenia
- Parkinson disease
- congenital heart disease
- idiopathic pulmonary fibrosis
- uveal melanoma
- ocular melanoma
- infection by Dengue virus 2
role in cell
- expression in
- growth
- endocytosis
- survival
- linkage
- budding
- endocytosis by
- endocytosis in
- assembly
- budding in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- nuclear fraction
- membrane fraction
- glutaminergic synapse
- endocytic vesicle membrane
- cellular membrane
- Nucleus
- cytosol
- lysosome membrane
- endosomal membrane
- synaptic vesicles
- growth cone
- synapse
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human AP2B1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- clathrin-mediated endocytosis
- vesicle-mediated transport
- kidney development
- aorta development
- synaptic vesicle endocytosis
- ventricular septum development
- coronary vasculature development
- intracellular protein transport
Cellular Component
Where in the cell the gene product is active
- clathrin-coated endocytic vesicle membrane
- endolysosome membrane
- membrane
- clathrin adaptor complex
- cytosol
- clathrin-coated endocytic vesicle
- AP-2 adaptor complex
- endocytic vesicle membrane
- plasma membrane
- internal side of plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- clathrin adaptor activity
- clathrin binding
- signal sequence binding