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
382562072024The 75-99 C-Terminal Peptide of URG7 Protein Promotes α-Synuclein Disaggregation.0
382562072024The 75-99 C-Terminal Peptide of URG7 Protein Promotes α-Synuclein Disaggregation.0
362612882023High frequency of HTRA1 AND ABCC6 mutations in Japanese patients with adult-onset cerebral small vessel disease.3
362612882023High frequency of HTRA1 AND ABCC6 mutations in Japanese patients with adult-onset cerebral small vessel disease.3
338208322022Clinical and subclinical findings in heterozygous ABCC6 carriers: results from a Belgian cohort and clinical practice guidelines.2
345976102022Functional Assessment of Missense Variants in the ABCC6 Gene Implicated in Pseudoxanthoma Elasticum, a Heritable Ectopic Mineralization Disorder.0
360124822022Targeting ABCC6 in Mesenchymal Stem Cells: Impairment of Mature Adipocyte Lipid Homeostasis.1
360304752022ABCC6P1 pseudogene induces ABCC6 upregulation and multidrug resistance in breast cancer.1
363174592022The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals.2
364970522022CircZXDC Promotes Vascular Smooth Muscle Cell Transdifferentiation via Regulating miRNA-125a-3p/ABCC6 in Moyamoya Disease.5
338208322022Clinical and subclinical findings in heterozygous ABCC6 carriers: results from a Belgian cohort and clinical practice guidelines.2
345976102022Functional Assessment of Missense Variants in the ABCC6 Gene Implicated in Pseudoxanthoma Elasticum, a Heritable Ectopic Mineralization Disorder.0
360124822022Targeting ABCC6 in Mesenchymal Stem Cells: Impairment of Mature Adipocyte Lipid Homeostasis.1
360304752022ABCC6P1 pseudogene induces ABCC6 upregulation and multidrug resistance in breast cancer.1
363174592022The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals.2

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/js/gene-explorer/