ABCC6 (ATP binding cassette subfamily C member 6)

2003-08-01  

Identity

HGNC
LOCATION
16p13.11
LOCUSID
ALIAS
ABC34,ARA,EST349056,GACI2,MLP1,MOAT-E,MOATE,MRP6,PXE,PXE1,URG7
FUSION GENES

Other Information

Locus ID:

NCBI: 368
MIM: 603234
HGNC: 57
Ensembl: ENSG00000091262

Variants:

dbSNP: 368
ClinVar: 368
TCGA: ENSG00000091262
COSMIC: ABCC6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000091262ENST00000205557O95255
ENSG00000091262ENST00000456970O95255
ENSG00000091262ENST00000575728O95255
ENSG00000091262ENST00000577103I3L1Z6
ENSG00000091262ENST00000622290O95255
ENSG00000091262ENST00000640696A0A1W2PQX7

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

Pathways

PathwaySourceExternal ID
ABC transportersKEGGko02010
ABC transportersKEGGhsa02010
Transmembrane transport of small moleculesREACTOMER-HSA-382551
ABC-family proteins mediated transportREACTOMER-HSA-382556

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA445425Prostatic NeoplasmsDiseaseClinicalAnnotationassociatedPD20038957
PA449383docetaxelChemicalClinicalAnnotationassociatedPD20038957
PA451644thalidomideChemicalClinicalAnnotationassociatedPD20038957

References

Pubmed IDYearTitleCitations
222092482012Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.89
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.75
249697772014ABCC6-mediated ATP secretion by the liver is the main source of the mineralization inhibitor inorganic pyrophosphate in the systemic circulation-brief report.72
118803682002Loss of ATP-dependent transport activity in pseudoxanthoma elasticum-associated mutants of human ABCC6 (MRP6).65
242778202013ABCC6 prevents ectopic mineralization seen in pseudoxanthoma elasticum by inducing cellular nucleotide release.65
176175152007Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum.60
176175152007Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum.60
158945952005Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations.56
200329902010Pseudoxanthoma elasticum: molecular genetics and putative pathomechanisms.55
188001492009Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes.39

Citation

Dessen P

ABCC6 (ATP binding cassette subfamily C member 6)

Atlas Genet Cytogenet Oncol Haematol. 2003-08-01

Online version: http://atlasgeneticsoncology.org/gene/543/abcc6