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Abca2 Gene Detail
Summary
  • Symbol
    Abca2
  • Name
    ATP-binding cassette, sub-family A member 2
  • Synonyms
    Abc2, D2H0S1474E, mKIAA1062
  • Feature Type
    protein coding gene
  • IDs
    MGI:99606
    NCBI Gene: 11305
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:25318715-25338552 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 17.25 cM, cytoband A2-B
  • Mapping Data
    6 experiments
Strain
Comparison
more
  • SNPs within 2kb
    470 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    3
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_99606
 protein coding gene Chr2:25318611-25338556 (+)
129S1/SvImJ MGP_129S1SvImJ_G0025446
 protein coding gene Chr2:23317204-23337041 (+)
A/J MGP_AJ_G0025423
 protein coding gene Chr2:22412296-22432181 (+)
AKR/J MGP_AKRJ_G0025393
 protein coding gene Chr2:23161308-23181200 (+)
BALB/cJ MGP_BALBcJ_G0025419
 protein coding gene Chr2:22525920-22545757 (+)
C3H/HeJ MGP_C3HHeJ_G0025180
 protein coding gene Chr2:23099385-23119222 (+)
C57BL/6NJ MGP_C57BL6NJ_G0025863
 protein coding gene Chr2:24063516-24083353 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0023274
 protein coding gene Chr2:21324317-21344458 (+)
CAST/EiJ MGP_CASTEiJ_G0024643
 protein coding gene Chr2:22978515-22998409 (+)
CBA/J MGP_CBAJ_G0025158
 protein coding gene Chr2:24897112-24916949 (+)
DBA/2J MGP_DBA2J_G0025291
 protein coding gene Chr2:22252193-22272084 (+)
FVB/NJ MGP_FVBNJ_G0025253
 protein coding gene Chr2:21996899-22016736 (+)
LP/J MGP_LPJ_G0025377
 protein coding gene Chr2:23258487-23278324 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0025284
 protein coding gene Chr2:25086941-25106829 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0025922
 protein coding gene Chr2:23114987-23134824 (+)
PWK/PhJ MGP_PWKPhJ_G0024391
 protein coding gene Chr2:22074261-22094122 (+)
SPRET/EiJ MGP_SPRETEiJ_G0024191
 protein coding gene Chr2:23257339-23277235 (+)
WSB/EiJ MGP_WSBEiJ_G0024712
 protein coding gene Chr2:23191662-23211537 (+)



Homology
more
  • Human Ortholog
    ABCA2, ATP binding cassette subfamily A member 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ABCA2, ATP binding cassette subfamily A member 2
  • Synonyms
    ABC2, IDPOGSA
  • Links
    NCBI Gene ID: 20
    neXtProt AC: NX_Q9BZC7
    UniProt: Q9BZC7

  • Chr Location
    9q34.3; chr9:137007234-137028922 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    20 phenotypes from 3 alleles in 3 genetic backgrounds
    10 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.
Null mice show tremors, hyperactivity, abnormal coordination, and alterations in CNS myelin sheath ultrastructure,
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    67
  • GO References
    13
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
    888
  • Tissues
    155
  • cDNA Data
    113
  • Literature Summary
    5
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000026944 Ensembl Gene Model | MGI Sequence Detail 19838 C57BL/6J ±  kb
    transcript ENSMUST00000102919 Ensembl | MGI Sequence Detail 8033 Not Applicable  
    polypeptide ENSMUSP00000099983 Ensembl | MGI Sequence Detail 2433 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      5 Sequences
    • Protein Ontology
      PR:000003540 ATP-binding cassette sub-family A member 2
      (term hierarchy)
    • EC
      7.6.2.-
    • InterPro Domains
      IPR003593 AAA+ ATPase domain
      IPR013525 ABC-2 type transporter, transmembrane domain
      IPR026082 ABC transporter A
      IPR003439 ABC transporter-like, ATP-binding domain
      IPR017871 ABC transporter-like, conserved site
      IPR027417 P-loop containing nucleoside triphosphate hydrolase
    • GlyGen
      P41234 26 sites, 12 N-linked glycans (12 sites), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 117
      cDNA 115
      Primer pair 1
      Other 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-16391, MGD-MRK-5803, MGI:2138926
    References
    more
    • Summaries
      All 55
      Developmental Gene Expression 5
      Gene Ontology 13
      Phenotypes 10
    • Earliest
      J:24443 Higgins CF, ABC transporters: from microorganisms to man. Annu Rev Cell Biol. 1992;8:67-113
    • 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