ZFIN ID: ZDB-GENE-040426-2174
Gene Name: adaptor related protein complex 2 subunit sigma 1
Gene Symbol: ap2s1    Nomenclature History

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Previous Names: fb52e12, igib, ignorance is bliss (1), wu:fb52e12, wu:fk78e12, zgc:65827

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(Including Attributions)
Gene 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: Alliance (1),  Gene:100148085 (1),  Ensembl(GRCz11):ENSDARG00000026967 (2)
GENE EXPRESSION No data available
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
p172 Point Mutation Donor Splice Site of Intron 3 Exon Loss of Exon 3 ENU
p199 Indel Unknown Frameshift, Premature Stop CRISPR
Sequence Targeting Reagents
Targeting Reagent Created Alleles Publications
CRISPR1-ap2s1 1
PHENOTYPE
Data: 2 figures from 2 publications
Observed in:
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
DISEASE ASSOCIATED WITH ap2s1 VIA EXPERIMENTAL MODELS No data available
GENE ONTOLOGY
Ontology GO Term
Biological Process habituation (more)
Cellular Component AP-2 adaptor complex (more)
Molecular Function clathrin adaptor activity (more)
GO Terms (all 10)
PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
TRANSCRIPTS
Type Name Length (nt) Analysis
mRNA ap2s1-201 (1)    Ensembl 2805
Browsers: UCSCNCBIEnsemblZFIN
INTERACTIONS AND PATHWAYS
ANTIBODIES No data available
PLASMIDS No data available
CONSTRUCTS WITH SEQUENCES FROM ap2s1 No data available
MARKER RELATIONSHIPS
ap2s1 Contained in: [BAC] CH211-13K20 (1)
ap2s1 Encodes: [EST] fb52e12, fk78e12 (1)
[cDNA] MGC:65827 (1)
SEQUENCE INFORMATION
Type Accession # Length (nt/aa) Analysis
RNA RefSeq:NM_213155 (1) 3320 nt
Genomic GenBank:CR293508 (1) 168933 nt
Select Tool
Polypeptide UniProtKB:Q6PEJ2 (1) 142 aa
Sequence Information (all 16)
ORTHOLOGY for ap2s1 ( Chr: 15 )
CITATIONS (24)