Gene table of ABCC8 : ATP binding cassette subfamily C member 8

Gene-disease associations table

Disease IDDisease nameSource of annotation with ABCC8OMIM linkNumber of associated genesgenes
PS256450HYPERINSULINEMIA HYPOGLYCEMIAClinVar, OMIM, HUMSAVAR link to OMIM 7GCK, INSR, SLC16A1, GLUD1, HADH, ABCC8, KCNJ11
125853DIABETES MELLITUS, NONINSULIN-DEPENDENTClinVar, OMIM link to OMIM 33SLC2A2, HNF4A, TCF7L2, SLC30A8, GPD2, PAX4, PTPN1, SLC2A4, ABCC8, HMGA1, LIPC, NEUROD1, CDKAL1, WFS1, PPARG, RETN, AKT2, IRS2, IL6, IRS1, GCGR, CAPN10, IGF2BP2, INSR, PDX1, MTNR1B, GCK, HNF1B, HNF1A, MAPK8IP1, ENPP1, PPP1R3A, KCNJ11
240800HYPOGLYCEMIA, LEUCINE-INDUCEDClinVar, OMIM, HUMSAVAR link to OMIM 1ABCC8
606176DIABETES MELLITUS, PERMANENT NEONATALClinVar, OMIM, HUMSAVAR link to OMIM 4ABCC8, INS, GCK, KCNJ11
610374DIABETES MELLITUS, TRANSIENT NEONATAL, 2ClinVar, OMIM, HUMSAVAR link to OMIM 1ABCC8

Download the gene annotation in CSV format

Annotation of the gene ABCC8

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
ABC transportershsa020107.28
Insulin secretionhsa049116.18
Type II diabetes mellitushsa049307.12
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Inwardly rectifying K+ channelsR-HSA-12960658.03
Regulation of insulin secretionR-HSA-4223566.66
Potassium ChannelsR-HSA-12960716.35
ABC-family proteins mediated transportR-HSA-3825567.59
Integration of energy metabolismR-HSA-1636856.24
Transmembrane transport of small moleculesR-HSA-3825513.79
MetabolismR-HSA-14307282.34
Neuronal SystemR-HSA-1123164.82
ATP sensitive Potassium channelsR-HSA-129602510.98
Associated GO terms for Molecular function
GO termGO IDGO IC
potassium channel activityGO:00052674.94
signaling receptor activityGO:00380232.49
ATPase activityGO:00168873.65
purine ribonucleoside triphosphate bindingGO:00356392.22
inward rectifier potassium channel activityGO:00052426.65
heterocyclic compound bindingGO:19013631.06
molecular transducer activityGO:00600892.32
bindingGO:00054880.18
signal transducer activityGO:00048712.28
cation channel activityGO:00052614.04
ion channel bindingGO:00443255.02
purine nucleoside bindingGO:00018832.22
transmembrane receptor activityGO:00996002.53
nucleoside phosphate bindingGO:19012651.96
nucleoside bindingGO:00018822.21
ATPase coupled ion transmembrane transporter activityGO:00426255.46
ATPase activity, coupled to transmembrane movement of substancesGO:00426265.06
hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substancesGO:00168205.03
monovalent inorganic cation transmembrane transporter activityGO:00150773.87
pyrophosphatase activityGO:00164623.04
ATP-activated inward rectifier potassium channel activityGO:00152728.13
anion transmembrane transporter activityGO:00085094.43
ligand-gated ion channel activityGO:00152764.8
anion transmembrane-transporting ATPase activityGO:00432257.34
nucleotide bindingGO:00001661.96
primary active transmembrane transporter activityGO:00153994.98
voltage-gated cation channel activityGO:00228434.83
ribonucleoside bindingGO:00325492.22
purine nucleotide bindingGO:00170762.19
metal ion transmembrane transporter activityGO:00468733.71
ATP bindingGO:00055242.43
active transmembrane transporter activityGO:00228043.85
hydrolase activityGO:00167871.9
transmembrane transporter activityGO:00228572.82
GO:00082819.05
transporter activityGO:00052152.57
ion channel activityGO:00052163.71
cation transmembrane transporter activityGO:00083243.32
nucleoside-triphosphatase activityGO:00171113.09
SNARE bindingGO:00001494.87
small molecule bindingGO:00360941.89
catalytic activityGO:00038241.05
substrate-specific transporter activityGO:00228922.72
syntaxin bindingGO:00199055.19
passive transmembrane transporter activityGO:00228033.6
substrate-specific transmembrane transporter activityGO:00228912.9
inorganic cation transmembrane transporter activityGO:00228903.49
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydridesGO:00168183.03
substrate-specific channel activityGO:00228383.67
protein bindingGO:00055150.46
adenyl nucleotide bindingGO:00305542.4
carbohydrate derivative bindingGO:00973672.03
organic cyclic compound bindingGO:00971591.05
ATPase activity, coupled to movement of substancesGO:00434924.93
ATPase activity, coupledGO:00426233.97
voltage-gated potassium channel activityGO:00052495.24
hydrolase activity, acting on acid anhydridesGO:00168173.03
P-P-bond-hydrolysis-driven transmembrane transporter activityGO:00154054.98
ion transmembrane transporter activityGO:00150753.04
voltage-gated channel activityGO:00228324.49
transmembrane signaling receptor activityGO:00048882.57
channel activityGO:00152673.6
adenyl ribonucleotide bindingGO:00325592.41
gated channel activityGO:00228363.96
active ion transmembrane transporter activityGO:00228535.06
ligand-gated channel activityGO:00228344.8
purine ribonucleotide bindingGO:00325552.2
voltage-gated ion channel activityGO:00052444.49
potassium ion transmembrane transporter activityGO:00150794.77
purine ribonucleoside bindingGO:00325502.22
ribonucleotide bindingGO:00325532.19
receptor activityGO:00048722.32