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Ap1s2 Gene Detail
Summary
  • Symbol
    Ap1s2
  • Name
    adaptor-related protein complex 1, sigma 2 subunit
  • Synonyms
    1500012A13Rik, EST1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1889383
    NCBI Gene: 108012
  • Gene Overview
    MyGene.info: AP1S2
  • Alliance
Location & Maps
more
  • Sequence Map
    ChrX:163909017-163933666 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      24650 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome X, 75.97 cM, cytoband F5
  • Mapping Data
    4 experiments
Homology
more
  • Human Ortholog
    AP1S2, adaptor related protein complex 1 subunit sigma 2
  • Vertebrate Orthologs
    10
  • Human Ortholog
    AP1S2, adaptor related protein complex 1 subunit sigma 2
    Orthology source: HomoloGene, HGNC
  • Synonyms
    DC22, MRX59, MRXS21, MRXS5, MRXSF, PGS, SIGMA1B
  • Links
    NCBI Gene ID: 8905
    neXtProt AC: NX_P56377
    UniProt: P56377

  • Chr Location
    Xp22.2; chrX:15825806-15855014 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Ap1s2 mouse models

Human Disease Mouse Models
      
IDs
View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    18 phenotypes from 1 allele in 1 genetic background
    9 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Targeted inactivation of the sigma1B isoform results in impaired synaptic vesicle recycling, hypoactivity, impaired balance, deficits in long-term spatial memory, lipodystrophy, and abnormal adipocyte differentiation.
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 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
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000019515 VEGA Gene Model | MGI Sequence Detail 24650 C57BL/6J ±  kb
    transcript OTTMUST00000046603 VEGA | MGI Sequence Detail 2226 Not Applicable  
    polypeptide OTTMUSP00000021045 VEGA | MGI Sequence Detail 160 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      3 from dbSNP Build 142
    • RFLP
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 14
      cDNA 13
      Primer pair 1

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGI:1916210, MGI:2147933
    References
    more
    • Summaries
      All 37
      Developmental Gene Expression 4
      Diseases 1
      Gene Ontology 5
      Phenotypes 9
    • Earliest
      J:43399 Kirchhausen T, et al., AP17 and AP19, the mammalian small chains of the clathrin-associated protein complexes show homology to Yap17p, their putative homolog in yeast. J Biol Chem. 1991 Jun 15;266(17):11153-7
    • Latest
      J:256939 Candiello E, et al., Differential regulation of synaptic AP-2/clathrin vesicle uncoating in synaptic plasticity. Sci Rep. 2017 Nov 17;7(1):15781

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    05/15/2018
    MGI 6.12
    The Jackson Laboratory