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
Expression
All Expression Data
No data available
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
2 figures from 2 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With ap2s1 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
familial hypocalciuric hypercalcemia 3 Alliance Hypocalciuric hypercalcemia, type III 600740
Associated With ap2s1 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR000804 Clathrin adaptor complex, small chain
Domain IPR022775 AP complex, mu/sigma subunit
Family IPR016635 Adaptor protein complex, sigma subunit
Family IPR027156 AP-2 complex subunit sigma
Homologous_superfamily IPR011012 Longin-like domain superfamily
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
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations