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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
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:16472369-16483215 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 9.15 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    474 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2141861
 protein coding gene Chr7:16472335-16483219 (+)
129S1/SvImJ MGP_129S1SvImJ_G0031715
 protein coding gene Chr7:14476680-14490078 (+)
A/J MGP_AJ_G0031687
 protein coding gene Chr7:14214555-14225431 (+)
AKR/J MGP_AKRJ_G0031612
 protein coding gene Chr7:14545961-14556834 (+)
BALB/cJ MGP_BALBcJ_G0031694
 protein coding gene Chr7:14317599-14328473 (+)
C3H/HeJ MGP_C3HHeJ_G0031416
 protein coding gene Chr7:14738141-14748961 (+)
C57BL/6NJ MGP_C57BL6NJ_G0032160
 protein coding gene Chr7:15225008-15235886 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0029239
 protein coding gene Chr7:15751113-15762059 (+)
CAST/EiJ MGP_CASTEiJ_G0030767
 protein coding gene Chr7:11498074-11508900 (+)
CBA/J MGP_CBAJ_G0031375
 protein coding gene Chr7:15706275-15717165 (+)
DBA/2J MGP_DBA2J_G0031531
 protein coding gene Chr7:14105200-14116125 (+)
FVB/NJ MGP_FVBNJ_G0031487
 protein coding gene Chr7:14002383-14013155 (+)
LP/J MGP_LPJ_G0031616
 protein coding gene Chr7:14723007-14733833 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0031522
 protein coding gene Chr7:15637050-15647897 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0032189
 protein coding gene Chr7:14322315-14333187 (+)
PWK/PhJ MGP_PWKPhJ_G0030491
 protein coding gene Chr7:11624606-11635391 (+)
SPRET/EiJ MGP_SPRETEiJ_G0030318
 protein coding gene Chr7:9243782-9254087 (+)
WSB/EiJ MGP_WSBEiJ_G0030864
 protein coding gene Chr7:14393245-14404119 (+)



Homology
more
  • Human Ortholog
    AP2S1, adaptor related protein complex 2 subunit sigma 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    AP2S1, adaptor related protein complex 2 subunit sigma 1
  • Synonyms
    AP17, CLAPS2, FBH3, FBHOk, HHC3
  • Links
    NCBI Gene ID: 1175
    neXtProt AC: NX_P53680
    UniProt: P53680

  • Chr Location
    19q13.32; chr19:46838136-46850846 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human AP2S1 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    13 phenotypes from 2 alleles in 3 genetic backgrounds
    1 images
    13 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.
Mice homozygous for a knock-out allele exhibit decreased embryo size, a rudimentary egg cylinder, failure of primitive streak formation, absent primitive node and head folds, failure to gastrulate, and complete lethality prior to organogenesis.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    22
  • GO References
    12
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
    716
  • Tissues
    9
  • cDNA Data
    131
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 232910 NCBI Gene Model | MGI Sequence Detail 10847 C57BL/6J ±  kb
    transcript NM_198613 RefSeq | MGI Sequence Detail 798 C57BL/6  
    polypeptide P62743 UniProt | EBI | MGI Sequence Detail 142 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 132
      cDNA 131
      Primer pair 1

      Microarray probesets 3
    References
    more
    • Summaries
      All 48
      Developmental Gene Expression 2
      Gene Ontology 12
      Phenotypes 13
    • 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: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
    12/17/2024
    MGI 6.24     		The Jackson Laboratory