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Abca12 Gene Detail
Summary
  • Symbol
    Abca12
  • Name
    ATP-binding cassette, sub-family A (ABC1), member 12
  • Synonyms
    4832428G11Rik, 4833417A11Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:2676312
    NCBI Gene: 74591
  • Gene Overview
    MyGene.info: ABCA12
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr1:71242276-71414910 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      172635 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 35.81 cM
  • Mapping Data
    4 experiments
Homology
more
  • Human Ortholog
    ABCA12, ATP binding cassette subfamily A member 12
  • Vertebrate Orthologs
    11
  • Human Ortholog
    ABCA12, ATP binding cassette subfamily A member 12
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ARCI4A, ARCI4B, ICR2B, LI2
  • Links
    NCBI Gene ID: 26154
    neXtProt AC: NX_Q86UK0
    UniProt: Q86UK0

  • Chr Location
    2q35; chr2:214931542-215138591 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 45441
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;2 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: ABCA12
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Abca12 mouse models; 2 with human ABCA12 associations

Human Disease Mouse Models
      
IDs
View 3 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    37 phenotypes from 3 alleles in 4 genetic backgrounds
    4 images
    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.
Mice homozygous for a null allele exhibit neonatal lethality associated with defective skin development and abnormal lung morphology.
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 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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000048805 VEGA Gene Model | MGI Sequence Detail 172635 C57BL/6J ±  kb
    transcript OTTMUST00000124845 VEGA | MGI Sequence Detail 9137 Not Applicable  
    polypeptide OTTMUSP00000067837 VEGA | MGI Sequence Detail 2595 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      1043 from dbSNP Build 142
    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
      IPR030371 ATP-binding cassette subfamily A member 12
      IPR027417 P-loop containing nucleoside triphosphate hydrolase
    Molecular
    Reagents
    less
    • All nucleic 11
      cDNA 10
      Primer pair 1

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGI:1921841, MGI:3036275
    References
    more
    • Summaries
      All 39
      Developmental Gene Expression 5
      Diseases 3
      Gene Ontology 7
      Phenotypes 16
    • Earliest
      J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
    • Latest
      J:242353 Pichery M, et al., PNPLA1 defects in patients with autosomal recessive congenital ichthyosis and KO mice sustain PNPLA1 irreplaceable function in epidermal omega-O-acylceramide synthesis and skin permeability barrier. Hum Mol Genet. 2017 May 15;26(10):1787-1800

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    05/15/2018
    MGI 6.12
    The Jackson Laboratory