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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
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 sigma 2 subunit
  • Vertebrate Orthologs
    10
  • Human Ortholog
    AP1S2, adaptor related protein complex 1 sigma 2 subunit
    Orthology source: HomoloGene
  • Synonyms
    DC22, MRX59, MRXS21, MRXS5, MRXSF, PGS, SIGMA1B
  • Links
    NCBI Gene ID: 8905
    neXtProt AC: NX_P56377

  • Chr Location
    Xp22.2; chrX:15825806-15855014 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Ap1s2 mouse models

Human Disease Mouse Models
       Pettigrew Syndrome; PGS   OMIM: 304340 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
    8 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.
  • All Mutations and Alleles
    9
  • Gene trapped
    4
  • Targeted
    5
  • Incidental Mutations
    APF
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
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
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000019515 VEGA Gene Model | MGI Sequence Detail 24650 C57BL/6J ±  kb
transcript OTTMUST00000046605 VEGA | MGI Sequence Detail 3199 Not Applicable  
polypeptide OTTMUSP00000021047 VEGA | MGI Sequence Detail 160 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    3 from dbSNP Build 142
  • RFLP
Protein
Information
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  • UniProt
    5 Sequences
  • Protein Ontology
    PR:000004097 AP-1 complex subunit sigma-2
  • InterPro Domains
    IPR016635 Adaptor protein complex, sigma subunit
    IPR022775 AP complex, mu/sigma subunit
    IPR000804 Clathrin adaptor complex, small chain
    IPR011012 Longin-like domain
Molecular
Reagents
less
  • All nucleic 13
    cDNA 12
    Primer pair 1

    Microarray probesets 6
Other
Accession IDs
less
MGI:1916210, MGI:2147933
References
more
  • Summaries
    All 35
    Developmental Gene Expression 4
    Diseases 1
    Gene Ontology 5
    Phenotypes 8
  • Earliest
    J:63696 Blair HJ, et al., Positioning of five genes (CASK, ARX, SAT, IMAGE cDNAs 248928 and 253949) from the human X chromosome short arm with respect to evolutionary breakpoints on the mouse X chromosome. Mamm Genome. 2000 Aug;11(8):710-2
  • Latest
    J:226028 Lewandowski JP, et al., Spatiotemporal regulation of GLI target genes in the mammalian limb bud. Dev Biol. 2015 Oct 1;406(1):92-103

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
07/12/2016
MGI 6.04
The Jackson Laboratory