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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

HCOP human homology predictions: ABCA12
Gene Tree: Abca12

Human
homologs
ABCA12, ATP-binding cassette, sub-family A (ABC1), member 12
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 26154
neXtProt AC: NX_Q86UK0

Human Synonyms: ARCI4A, ARCI4B, ICR2B, LI2

Human Chr (Location): 2q34; chr2:214931542-215138580 (-)  GRCh38.p2

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 , CvDC )
 
Mice homozygous for a null allele exhibit neonatal lethality associated with defective skin development and abnormal lung morphology.
 
Human Diseases Modeled in Mice Using Abca12 (1)    Mutations Annotated to Human Diseases (3)    Phenotype Images(4)
Interactions
Abca12 interacts with 154 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (40 annotations)
Process ceramide transport, cholesterol efflux, ...
Component cytoplasm, cytosol, ...
Function apolipoprotein A-I receptor binding, ATPase activity, coupled to transmembrane movement of substances, ...
External Resources: FuncBase
Expression
Literature Summary: (4 records)
Data Summary: Results (94)    Tissues (94)    Images (1)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 94
cDNA source data(8)
Other mouse links: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(11) cDNA(10) Primer pair(1)
Microarray probesets(2)
Other database
links
VEGA Gene Model OTTMUSG00000048805 (Evidence)
Ensembl Gene Model ENSMUSG00000050296 (Evidence)
Entrez Gene 74591 (Evidence)
UniGene 159251
DFCI TC1590118, TC1651535, TC1616459, TC1615815
DoTS DT.101285918, DT.101352006, DT.87054483, DT.97331916, DT.91421336
NIA Mouse Gene Index U157376
Consensus CDS Project CCDS48286.1
International Mouse Phenotyping Consortium Status Abca12
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(41) RefSeq(3) UniProt(5)
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:217209 Cottle DL, et al., Fetal inhibition of inflammation improves disease phenotypes in harlequin ichthyosis. Hum Mol Genet. 2015 Jan 15;24(2):436-49
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
06/30/2015
MGI 5.22
The Jackson Laboratory