Abcc6
Gene Detail

Symbol Name ID

Abcc6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6 MGI:1351634

Synonyms

DCC, Dyscalc1, Mrp6

Feature Type

protein coding gene

Genetic Map

Chromosome 7

29.64 cM, cytoband B3
Detailed Genetic Map ± 1 cM


Mapping data(9)

Sequence Map

Chr7:45976380-46030302 bp, - strand From VEGA annotation of GRCm38   53923 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:55559  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken

Gene Tree: Abcc6

Human homologs

Human Homolog		ABCC6, ATP-binding cassette, sub-family C (CFTR/MRP), member 6
NCBI Gene ID		368
neXtProt AC		NX_O95255
Human Synonyms		ABC34, ARA, EST349056, GACI2, MLP1, MOATE, MOAT-E, MRP6, PXE, PXE1, URG7
Human Chr (Location)		16p13.1; chr16:16243422-16317328 (-)  GRCh37.p10
Disease Associations		(3) Diseases Associated with Human ABCC6

Alleles and phenotypes

All alleles(15) : Targeted(5) Gene trapped(1) QTL(9)
 

Homozygous null mice display patchy mineralization which may include the capsule surrounding the sinuses of vibrissae, medium sized arteries, skin, retina, kidney, and interscapular brown fat. Strain differences at this locus may lead to altered susceptibility to cardiac calcinosis.

 
Human Diseases Modeled Using Mouse Abcc6 (1)    Alleles Annotated to Human Diseases(2)   

Gene Ontology (GO) classifications

All GO classifications: (17 annotations)

Process	ATP catabolic process, metabolic process, ...
Component	apical plasma membrane, integral to membrane, ...
Function	ATPase activity, ATPase activity, coupled to transmembrane movement of substances, ...

External Resources: FuncBase

Expression

Literature Summary: (2 records)
Data Summary: Results (123)    Tissues (111)   
Theiler Stages: 20, 22, 23, 24, 25, 26, 28

Assay Type	Results
Immunohistochemistry	11
RNA in situ	106
RNase protection	6

cDNA source data(22)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(22) cDNA(22)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000031288 (Evidence)
Ensembl Gene Model	ENSMUSG00000030834 (Evidence)
Entrez Gene	27421 (Evidence)
UniGene	63514
DFCI	TC1587152
DoTS	DT.101353347, DT.523464
NIA Mouse Gene Index	U028549
Consensus CDS Project	CCDS21272.1
International Mouse Knockout Project Status	Abcc6

Sequences

Length	Strain/Species
genomic	OTTMUSG00000031288	VEGA Gene Model | MGI Sequence Detail	53923	C57BL/6J
transcript	OTTMUST00000077529	VEGA | MGI Sequence Detail	4974	Not Applicable
polypeptide	OTTMUSP00000041023	VEGA | MGI Sequence Detail	1498	Not Applicable

All sequences(24) RefSeq(2) UniProt(1)

Polymorphisms

SNPs within 2kb(781 from dbSNP Build 137)

Protein-related information

Resource	ID	Description
InterPro	IPR003593	AAA+ ATPase domain
InterPro	IPR017871	ABC transporter, conserved site
InterPro	IPR017940	ABC transporter, integral membrane type 1
InterPro	IPR003439	ABC transporter-like
InterPro	IPR001140	ABC transporter, transmembrane domain
InterPro	IPR011527	ABC transporter, transmembrane domain, type 1
InterPro	IPR027417	P-loop containing nucleoside triphosphate hydrolase
Protein Ontology	PR:000003562	multidrug resistance-associated protein 6

References

(Earliest) J:33253 Ivandic BT, et al., A locus on chromosome 7 determines myocardial cell necrosis and calcification (dystrophic cardiac calcinosis) in mice. Proc Natl Acad Sci U S A. 1996 May 28;93(11):5483-8
(Latest) J:188698 Li Q, et al., A Novel Animal Model for Pseudoxanthoma Elasticum: The KK/HlJ Mouse. Am J Pathol. 2012 Oct;181(4):1190-6
All references(60)

Other accession IDs

MGI:892987