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

Chr1:71243090-71414910 bp, - strand From NCBI annotation of GRCm38   171821 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Mammalian homology

human; rat; cattle; chimpanzee; dog, domestic    (Mammalian Orthology)
Comparative Map (Mouse/Human Abca12 ± 2 cM)

Gene Tree: Abca12

Human ortholog

ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12 NCBI Gene ID 26154
Human Synonyms: ARCI4A, ARCI4B, ICR2B, LI2
Human Chr2:215796266-216003151 bp, - strand Reference GRCh37.p2 Primary Assembly
Human Diseases Associated with Human ABCA12 (2)

Alleles and phenotypes

All alleles(6) : Targeted(5) Chemically induced(1)
 

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)

Gene Ontology (GO) classifications

All GO classifications: (17 annotations)

Process	ceramide transport, establishment of skin barrier, ...
Component	cytosol, mitochondrial inner membrane
Function	ATP binding, nucleotide binding

External Resources: FuncBase

Expression

Literature Summary: (2 records)
Data Summary: Results (94)    Tissues (94)    Images (1)
Theiler Stages: 22

Assay Type	Results
RNA in situ	94

cDNA source data(8)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(11) cDNA(10) Primer pair(1)
Microarray probesets(2)

Other database links

Ensembl Gene Model	ENSMUSG00000050296 (Evidence)
Entrez Gene	74591 (Evidence)
UniGene	159251
DFCI	TC1590118, TC1615815, TC1616459, TC1651535
DoTS	DT.101285918, DT.101352006, DT.87054483, DT.91421336, DT.97331916
NIA Mouse Gene Index	U157376
Consensus CDS Project	CCDS48286.1
International Mouse Knockout Project Status	Abca12

Sequences

Length	Strain/Species
genomic	74591	NCBI Gene Model | MGI Sequence Detail	171821	C57BL/6J
transcript	NM_175210	RefSeq | MGI Sequence Detail	8323	C57BL/6
polypeptide	NP_780419	RefSeq | MGI Sequence Detail	2595	C57BL/6

All sequences(30) RefSeq(3) UniProt(5)

Polymorphisms

SNPs(837 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR003593	AAA+ ATPase domain
InterPro	IPR026082	ABC transporter A, ABCA
InterPro	IPR017871	ABC transporter, conserved site
InterPro	IPR003439	ABC transporter-like

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:182200 Yanagi T, et al., AKT has an anti-apoptotic role in ABCA12-deficient keratinocytes. J Invest Dermatol. 2011 Sep;131(9):1942-5
All references(34)

Other accession IDs

MGI:1921841, MGI:3036275