ABCC8 (ATP binding cassette subfamily C member 8)

2013-12-01  

Identity

HGNC
LOCATION
11p15.1
LOCUSID
ALIAS
ABC36,HHF1,HI,HRINS,MRP8,PHHI,PNDM3,SUR,SUR1,SUR1delta2,TNDM2
FUSION GENES

Other Information

Locus ID:

NCBI: 6833
MIM: 600509
HGNC: 59
Ensembl: ENSG00000006071

Variants:

dbSNP: 6833
ClinVar: 6833
TCGA: ENSG00000006071
COSMIC: ABCC8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000006071ENST00000302539Q09428
ENSG00000006071ENST00000389817Q09428
ENSG00000006071ENST00000526168H0YF51
ENSG00000006071ENST00000527905E9PK50
ENSG00000006071ENST00000528374H0YDH8
ENSG00000006071ENST00000531642H0YEA9
ENSG00000006071ENST00000531891H0YE33
ENSG00000006071ENST00000532728A0A2R8Y6B7
ENSG00000006071ENST00000612903Q09428
ENSG00000006071ENST00000642271A0A2R8YDG0
ENSG00000006071ENST00000642579A0A2R8YHG6
ENSG00000006071ENST00000642902A0A2R8Y3M7
ENSG00000006071ENST00000643260A0A2R8Y5D8
ENSG00000006071ENST00000643562A0A2R8Y7I1
ENSG00000006071ENST00000643925A0A2R8YG67
ENSG00000006071ENST00000644447A0A2R8YGQ6
ENSG00000006071ENST00000644472A0A2R8Y698
ENSG00000006071ENST00000644484A0A2R8YCG4
ENSG00000006071ENST00000644542Q09428
ENSG00000006071ENST00000644649A0A2R8YDE9
ENSG00000006071ENST00000644675A0A2R8YDG6
ENSG00000006071ENST00000644757A0A2R8Y5V4
ENSG00000006071ENST00000644772A0A2R8Y4V0
ENSG00000006071ENST00000645076A0A2R8Y5X1
ENSG00000006071ENST00000645417A0A2R8Y775
ENSG00000006071ENST00000645744A0A2R8Y5I7
ENSG00000006071ENST00000645760A0A2R8YFB3
ENSG00000006071ENST00000645884A0A2R8YEE5
ENSG00000006071ENST00000646003A0A2R8Y6I7
ENSG00000006071ENST00000646207A0A2R8YDX3
ENSG00000006071ENST00000646276A0A2R8Y781
ENSG00000006071ENST00000646592A0A2R8YDB5
ENSG00000006071ENST00000646737A0A2R8Y605
ENSG00000006071ENST00000646902A0A2R8Y4Z4
ENSG00000006071ENST00000646993A0A2R8Y475
ENSG00000006071ENST00000647013A0A2R8YFU3
ENSG00000006071ENST00000647015A0A2R8Y6Q0
ENSG00000006071ENST00000647086A0A2R8YD94
ENSG00000006071ENST00000647158A0A2R8Y6I7

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
ABC transportersKEGGko02010
Type II diabetes mellitusKEGGko04930
ABC transportersKEGGhsa02010
Type II diabetes mellitusKEGGhsa04930
Insulin secretionKEGGhsa04911
Neuronal SystemREACTOMER-HSA-112316
Potassium ChannelsREACTOMER-HSA-1296071
Inwardly rectifying K+ channelsREACTOMER-HSA-1296065
ATP sensitive Potassium channelsREACTOMER-HSA-1296025
DiseaseREACTOMER-HSA-1643685
Disorders of transmembrane transportersREACTOMER-HSA-5619115
ABC transporter disordersREACTOMER-HSA-5619084
Transmembrane transport of small moleculesREACTOMER-HSA-382551
ABC-family proteins mediated transportREACTOMER-HSA-382556
MetabolismREACTOMER-HSA-1430728
Integration of energy metabolismREACTOMER-HSA-163685
Regulation of insulin secretionREACTOMER-HSA-422356
Defective ABCC8 can cause hypoglycemias and hyperglycemiasREACTOMER-HSA-5683177

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA10390sulfonamides, urea derivativesChemicalClinicalAnnotationassociatedPD24442125
PA443886Diabetes MellitusDiseaseClinicalAnnotationassociatedPD24442125

References

Pubmed IDYearTitleCitations
125406372003Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes.180
125406372003Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes.180
168855492006Activating mutations in the ABCC8 gene in neonatal diabetes mellitus.159
181625062008Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood.107
206826872010Common variants in 40 genes assessed for diabetes incidence and response to metformin and lifestyle intervention in the diabetes prevention program.88
174465352007Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood.86
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
187671442009Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism.83
180254082008Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations.68
151115072004Haplotype structure and genotype-phenotype correlations of the sulfonylurea receptor and the islet ATP-sensitive potassium channel gene region.66

Citation

Dessen P

ABCC8 (ATP binding cassette subfamily C member 8)

Atlas Genet Cytogenet Oncol Haematol. 2013-12-01

Online version: http://atlasgeneticsoncology.org/gene/52464/abcc8