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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
  • Alliance
    gene page
  • Transcription Start Sites
    11 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:162692013-162716662 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 75.97 cM, cytoband F5
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    382 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1889383
 protein coding gene ChrX:162691427-162716662 (+)
129S1/SvImJ MGP_129S1SvImJ_G0036247
 protein coding gene ChrX:161981201-162007017 (+)
A/J MGP_AJ_G0036217
 protein coding gene ChrX:161155514-161180121 (+)
AKR/J MGP_AKRJ_G0036145
 protein coding gene ChrX:166336542-166361474 (+)
BALB/cJ MGP_BALBcJ_G0036210
 protein coding gene ChrX:159154313-159179535 (+)
C3H/HeJ MGP_C3HHeJ_G0035916
 protein coding gene ChrX:162335870-162361357 (+)
C57BL/6NJ MGP_C57BL6NJ_G0036732
 protein coding gene ChrX:166730632-166757072 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0033554
 protein coding gene ChrX:152214696-152239009 (+)
CAST/EiJ MGP_CASTEiJ_G0035205
 protein coding gene ChrX:141302818-141332579 (+)
CBA/J MGP_CBAJ_G0035891
 protein coding gene ChrX:171552761-171578523 (+)
DBA/2J MGP_DBA2J_G0036057
 protein coding gene ChrX:160051498-160078707 (+)
FVB/NJ MGP_FVBNJ_G0035988
 protein coding gene ChrX:159183702-159211837 (+)
LP/J MGP_LPJ_G0036142
 protein coding gene ChrX:163129578-163154092 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0036020
 protein coding gene ChrX:180234098-180271199 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0036773
 protein coding gene ChrX:161468579-161498152 (+)
PWK/PhJ MGP_PWKPhJ_G0034903
 protein coding gene ChrX:138092497-138118958 (+)
SPRET/EiJ MGP_SPRETEiJ_G0034724
 protein coding gene ChrX:141805749-141833250 (+)
WSB/EiJ MGP_WSBEiJ_G0035340
 protein coding gene ChrX:159434333-159461264 (+)



Homology
more
  • Human Ortholog
    AP1S2, adaptor related protein complex 1 subunit sigma 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    AP1S2, adaptor related protein complex 1 subunit sigma 2
  • Synonyms
    DC22, MRX59, MRXS21, MRXS5, MRXSF, PGS, SIGMA1B
  • Links
    NCBI Gene ID: 8905
    neXtProt AC: NX_P56377
    UniProt: P56377

  • Chr Location
    Xp22.2; chrX:15825806-15854931 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Ap1s2 mouse models; 1 with human AP1S2 associations

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
less
  • Phenotype Summary
    24 phenotypes from 2 alleles in 2 genetic backgrounds
    16 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
less
  • All GO Annotations
    25
  • GO References
    9
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    730
  • Tissues
    10
  • cDNA Data
    12
  • Literature Summary
    5
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000031367 Ensembl Gene Model | MGI Sequence Detail 24650 C57BL/6J ±  kb
    transcript ENSMUST00000069041 Ensembl | MGI Sequence Detail 2226 Not Applicable  
    polypeptide ENSMUSP00000066185 Ensembl | MGI Sequence Detail 160 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 16
      cDNA 14
      Primer pair 2

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGI:1916210, MGI:2147933
    References
    more
    • Summaries
      All 49
      Developmental Gene Expression 5
      Diseases 1
      Gene Ontology 9
      Phenotypes 16
    • 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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory