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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
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:71243090-71414910 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 35.81 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1038 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2676312
protein coding gene Chr1:71242276-71414910 (-)
129S1/SvImJ MGP_129S1SvImJ_G0016125
protein coding gene Chr1:71661876-71841824 (-)
A/J MGP_AJ_G0016108
protein coding gene Chr1:69129576-69300933 (-)
AKR/J MGP_AKRJ_G0016065
protein coding gene Chr1:71117517-71295639 (-)
BALB/cJ MGP_BALBcJ_G0016063
protein coding gene Chr1:69258011-69429801 (-)
C3H/HeJ MGP_C3HHeJ_G0015894
protein coding gene Chr1:71442371-71617807 (-)
C57BL/6NJ MGP_C57BL6NJ_G0016516
protein coding gene Chr1:74413759-74595806 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0014237
protein coding gene Chr1:64844377-65015076 (-)
CAST/EiJ MGP_CASTEiJ_G0015478
protein coding gene Chr1:70683863-70858885 (-)
CBA/J MGP_CBAJ_G0015867
protein coding gene Chr1:76900670-77083389 (-)
DBA/2J MGP_DBA2J_G0015968
protein coding gene Chr1:68530216-68697707 (-)
FVB/NJ MGP_FVBNJ_G0015971
protein coding gene Chr1:67706042-67878552 (-)
LP/J MGP_LPJ_G0016040
protein coding gene Chr1:72729163-72909251 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0015991
protein coding gene Chr1:80423017-80602770 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0016563
protein coding gene Chr1:71098381-71277404 (-)
PWK/PhJ MGP_PWKPhJ_G0015265
protein coding gene Chr1:67958569-68125616 (-)
SPRET/EiJ MGP_SPRETEiJ_G0015044
protein coding gene Chr1:70512070-70686941 (-)
WSB/EiJ MGP_WSBEiJ_G0015540
protein coding gene Chr1:70921395-71098410 (-)



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: HGNC, HomoloGene
  • 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 4 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    43 phenotypes from 4 alleles in 5 genetic backgrounds
    4 images
    17 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.
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
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 74591 NCBI Gene Model | MGI Sequence Detail 171821 C57BL/6J ±  kb
    transcript NM_175210 RefSeq | MGI Sequence Detail 8323 C57BL/6  
    polypeptide NP_780419 RefSeq | MGI Sequence Detail 2595 C57BL/6  
    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
      IPR030371 ATP-binding cassette subfamily A member 12
      IPR027417 P-loop containing nucleoside triphosphate hydrolase
    Molecular
    Reagents
    less
    • All nucleic 13
      cDNA 12
      Primer pair 1

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGI:1921841, MGI:3036275
    References
    more
    • Summaries
      All 41
      Developmental Gene Expression 6
      Diseases 4
      Gene Ontology 8
      Phenotypes 17
    • 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
    12/04/2018
    MGI 6.13
    The Jackson Laboratory