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Ap2s1 Gene Detail
Summary
  • Symbol
    Ap2s1
  • Name
    adaptor-related protein complex 2, sigma 1 subunit
  • Synonyms
    MGC:62945
  • Feature Type
    protein coding gene
  • IDs
    MGI:2141861
    NCBI Gene: 232910
Location & Maps
more
  • Sequence Map
    Chr7:16738410-16749294 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      10885 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    AP2S1, adaptor related protein complex 2 sigma 1 subunit
  • Vertebrate Orthologs
    10
  • Human Ortholog
    AP2S1, adaptor related protein complex 2 sigma 1 subunit
    Orthology source: HomoloGene
  • Synonyms
    AP17, CLAPS2, FBH3, FBHOk, HHC3
  • Links
    NCBI Gene ID: 1175
    neXtProt AC: NX_P53680

  • Chr Location
    19q13.32; chr19:46838158-46850995 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human AP2S1 associations

Human Disease Mouse Models
       Hypocalciuric Hypercalcemia, Familial, Type III; HHC3   OMIM: 600740
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    3 phenotype references
  • All Mutations and Alleles
    6
  • Gene trapped
    5
  • Targeted
    1
  • Incidental Mutations
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
  • cDNA Data
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000022892 VEGA Gene Model | MGI Sequence Detail 10885 C57BL/6J ±  kb
transcript OTTMUST00000054420 VEGA | MGI Sequence Detail 832 Not Applicable  
polypeptide OTTMUSP00000025971 VEGA | MGI Sequence Detail 142 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    123 from dbSNP Build 137
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 130
    cDNA 130

    Microarray probesets 3
References
more
  • Summaries
    All 27
    Gene Ontology 3
    Phenotypes 3
  • Earliest
    J:82808 Strausberg RL, et al., Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903
  • Latest
    J:198657 Duncker SV, et al., Otoferlin couples to clathrin-mediated endocytosis in mature cochlear inner hair cells. J Neurosci. 2013 May 29;33(22):9508-19

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory