Gene
ap2s1
- ID
- ZDB-GENE-040426-2174
- Name
- adaptor related protein complex 2 subunit sigma 1
- Symbol
- ap2s1 Nomenclature History
- Previous Names
-
- fb52e12
- igib
- ignorance is bliss (1)
- wu:fb52e12
- wu:fk78e12
- zgc:65827
- Type
- protein_coding_gene
- Location
- Chr: 15 Mapping Details/Browsers
- Description
- Predicted to have clathrin adaptor activity. Involved in habituation. Predicted to localize to intracellular membrane-bounded organelle. Human ortholog(s) of this gene implicated in familial hypocalciuric hypercalcemia 3. Orthologous to human AP2S1 (adaptor related protein complex 2 subunit sigma 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| familial hypocalciuric hypercalcemia 3 | Alliance | Hypocalciuric hypercalcemia, type III | 600740 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Adaptor protein complex, sigma subunit | AP-2 complex subunit sigma | AP complex, mu/sigma subunit | Clathrin adaptor complex, small chain | Longin-like domain superfamily |
|---|---|---|---|---|---|---|
|
UniProtKB:Q6PEJ2
|
142 |
Interactions and Pathways
No data available
Plasmids
No data available