About   Help   FAQ
Abca7 Gene Detail
Summary
  • Symbol
    Abca7
  • Name
    ATP-binding cassette, sub-family A (ABC1), member 7
  • Synonyms
    Abc51
  • Feature Type
    protein coding gene
  • IDs
    MGI:1351646
    NCBI Gene: 27403
  • Gene Overview
    MyGene.info: ABCA7
  • Alliance
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr10:79996494-80015572 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 10, 39.72 cM
  • Mapping Data
    7 experiments
Strain
Comparison
more
  • SNPs within 2kb
    76 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1351646
protein coding gene Chr10:79996455-80015572 (.)
129S1/SvImJ MGP_129S1SvImJ_G0017477
protein coding gene Chr10:80569412-80588489 (+)
A/J MGP_AJ_G0017455
protein coding gene Chr10:77752491-77772653 (+)
AKR/J MGP_AKRJ_G0017416
protein coding gene Chr10:79871529-79890606 (+)
BALB/cJ MGP_BALBcJ_G0017417
protein coding gene Chr10:77980075-77999153 (+)
C3H/HeJ MGP_C3HHeJ_G0017240
protein coding gene Chr10:79977303-79996381 (+)
C57BL/6NJ MGP_C57BL6NJ_G0017871
protein coding gene Chr10:83353571-83372640 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0015559
protein coding gene Chr10:73978450-73997375 (+)
CAST/EiJ MGP_CASTEiJ_G0016807
protein coding gene Chr10:80175720-80194797 (+)
CBA/J MGP_CBAJ_G0017212
protein coding gene Chr10:86580330-86599411 (+)
DBA/2J MGP_DBA2J_G0017318
protein coding gene Chr10:76969393-76988450 (+)
FVB/NJ MGP_FVBNJ_G0017312
protein coding gene Chr10:76148623-76167692 (+)
LP/J MGP_LPJ_G0017389
protein coding gene Chr10:81046663-81065753 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0017338
protein coding gene Chr10:88541640-88560772 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0017912
protein coding gene Chr10:79859489-79878565 (+)
PWK/PhJ MGP_PWKPhJ_G0016588
protein coding gene Chr10:76835772-76855032 (+)
SPRET/EiJ MGP_SPRETEiJ_G0016377
protein coding gene Chr10:78832743-78851846 (+)
WSB/EiJ MGP_WSBEiJ_G0016867
protein coding gene Chr10:79885001-79904080 (+)



Homology
more
  • Human Ortholog
    ABCA7, ATP binding cassette subfamily A member 7
  • Vertebrate Orthologs
    7
  • Human Ortholog
    ABCA7, ATP binding cassette subfamily A member 7
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ABCA-SSN, ABCX, AD9
  • Links
    NCBI Gene ID: 10347
    neXtProt AC: NX_Q8IZY2
    UniProt: Q8IZY2

  • Chr Location
    19p13.3; chr19:1040103-1065572 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with human ABCA7 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
    7 phenotypes from 2 alleles in 2 genetic backgrounds
    19 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygous mutant females, but not males, have less white fat and lower total serum and HDL cholesterol levels. Males exhibit a 10% reduction in kidney size.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
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 death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000035722 Ensembl Gene Model | MGI Sequence Detail 19079 C57BL/6J ±  kb
    transcript ENSMUST00000171637 Ensembl | MGI Sequence Detail 6638 Not Applicable  
    polypeptide ENSMUSP00000128121 Ensembl | MGI Sequence Detail 2167 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      5 Sequences
    • InterPro Domains
      IPR003593 AAA+ ATPase domain
      IPR026082 ABC transporter A
      IPR017871 ABC transporter, conserved site
      IPR003439 ABC transporter-like
      IPR030369 ATP-binding cassette subfamily A member 7
      IPR027417 P-loop containing nucleoside triphosphate hydrolase
    Molecular
    Reagents
    less
    • All nucleic 12
      Genomic 1
      cDNA 10
      Primer pair 1

      Microarray probesets 4
    References
    more
    • Summaries
      All 55
      Developmental Gene Expression 3
      Gene Ontology 13
      Phenotypes 19
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:231748 Sakae N, et al., ABCA7 Deficiency Accelerates Amyloid-beta Generation and Alzheimer's Neuronal Pathology. J Neurosci. 2016 Mar 30;36(13):3848-59

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
    Warranty Disclaimer & Copyright Notice
    Send questions and comments to User Support.
    last database update
    12/11/2018
    MGI 6.13
    The Jackson Laboratory