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Abca12
Gene Detail
Symbol

Name
ID
Abca12
ATP-binding cassette, sub-family A (ABC1), member 12
MGI:2676312
Synonyms
4832428G11Rik, 4833417A11Rik
Feature Type
protein coding gene
Genetic Map
Chromosome 1
35.81 cM
Detailed Genetic Map ± 1 cM


Mapping data(4)
Sequence Map
Chr1:71242276-71414910 bp, - strand
From VEGA annotation of GRCm38

  172635 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:45441  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 2 western clawed frog; 1 zebrafish

Gene Tree: Abca12

Human
homologs
Human Homolog ABCA12, ATP-binding cassette, sub-family A (ABC1), member 12
NCBI Gene ID 26154
neXtProt AC  NX_Q86UK0
Human Synonyms  ARCI4A, ARCI4B, ICR2B, LI2
Human Chr (Location)  2q34; chr2:214931542-215138428 (-)  GRCh38
Disease Associations  (2) Diseases Associated with Human ABCA12
Mutations,
alleles, and
phenotypes
All mutations/alleles(6) : Chemically induced (ENU)(1) Targeted(5)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for a null allele exhibit neonatal lethality associated with defective skin development and abnormal lung morphology.
 
Human Diseases Modeled Using Mouse Abca12 (1)    Alleles Annotated to Human Diseases(3)    Phenotype Images(4)
Interactions
Abca12 interacts with 155 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (32 annotations)
Process ceramide transport, establishment of skin barrier, ...
Component cytoplasm, cytosol, ...
Function apolipoprotein A-I receptor binding, lipid transporter activity, ...
External Resources: FuncBase
Expression
Literature Summary: (3 records)
Data Summary: Results (94)    Tissues (94)    Images (1)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 94
cDNA source data(8)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(11) cDNA(10) Primer pair(1)
Microarray probesets(2)
Other database
links
VEGA Gene ModelOTTMUSG00000048805 (Evidence)
Ensembl Gene ModelENSMUSG00000050296 (Evidence)
Entrez Gene74591 (Evidence)
UniGene159251
DFCITC1590118, TC1615815, TC1616459, TC1651535
DoTSDT.87054483, DT.101352006, DT.101285918, DT.91421336, DT.97331916
NIA Mouse Gene IndexU157376
Consensus CDS ProjectCCDS48286.1
International Mouse Knockout Project StatusAbca12
Sequences
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 sequences
All sequences(42) RefSeq(3) UniProt(10)
Polymorphisms
SNPs within 2kb(1043 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR003593 AAA+ ATPase domain
InterPro IPR026082 ABC transporter A, ABCA
InterPro IPR017871 ABC transporter, conserved site
InterPro IPR003439 ABC transporter-like
InterPro IPR027417 P-loop containing nucleoside triphosphate hydrolase
Protein Ontology PR:000003539 ATP-binding cassette sub-family A member 12
References
(Earliest) J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
(Latest) J:208287 Haller JF, et al., Endogenous beta-glucocerebrosidase activity in Abca12(-)/(-)epidermis elevates ceramide levels after topical lipid application but does not restore barrier function. J Lipid Res. 2014 Mar;55(3):493-503
All references(37)
Disease annotation references (3)
Other
accession IDs
MGI:1921841, MGI:3036275

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
12/09/2014
MGI 5.20
The Jackson Laboratory