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

Gene-disease associations table

Disease ID	Disease name	Source of annotation with ABCC8	OMIM link	Number of associated genes	genes
PS256450	HYPERINSULINEMIA HYPOGLYCEMIA	ClinVar, OMIM, HUMSAVAR	link to OMIM	7	GCK, INSR, SLC16A1, GLUD1, HADH, ABCC8, KCNJ11
125853	DIABETES MELLITUS, NONINSULIN-DEPENDENT	ClinVar, OMIM	link to OMIM	33	SLC2A2, 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
240800	HYPOGLYCEMIA, LEUCINE-INDUCED	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	ABCC8
606176	DIABETES MELLITUS, PERMANENT NEONATAL	ClinVar, OMIM, HUMSAVAR	link to OMIM	4	ABCC8, INS, GCK, KCNJ11
610374	DIABETES MELLITUS, TRANSIENT NEONATAL, 2	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	ABCC8

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Annotation of the gene ABCC8

Associated genes in ENSEMBL

ENSG00000006071

Associated proteins - SwissProt Accession ID

Q09428

Associated PDB IDs

Cytogenetic Band

11p15.1

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
ABC transporters	hsa02010	7.28
Insulin secretion	hsa04911	6.18
Type II diabetes mellitus	hsa04930	7.12

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Inwardly rectifying K+ channels	R-HSA-1296065	8.03
Regulation of insulin secretion	R-HSA-422356	6.66
Potassium Channels	R-HSA-1296071	6.35
ABC-family proteins mediated transport	R-HSA-382556	7.59
Integration of energy metabolism	R-HSA-163685	6.24
Transmembrane transport of small molecules	R-HSA-382551	3.79
Metabolism	R-HSA-1430728	2.34
Neuronal System	R-HSA-112316	4.82
ATP sensitive Potassium channels	R-HSA-1296025	10.98

Associated GO terms for Molecular function

GO term	GO ID	GO IC
potassium channel activity	GO:0005267	4.94
signaling receptor activity	GO:0038023	2.49
ATPase activity	GO:0016887	3.65
purine ribonucleoside triphosphate binding	GO:0035639	2.22
inward rectifier potassium channel activity	GO:0005242	6.65
heterocyclic compound binding	GO:1901363	1.06
molecular transducer activity	GO:0060089	2.32
binding	GO:0005488	0.18
signal transducer activity	GO:0004871	2.28
cation channel activity	GO:0005261	4.04
ion channel binding	GO:0044325	5.02
purine nucleoside binding	GO:0001883	2.22
transmembrane receptor activity	GO:0099600	2.53
nucleoside phosphate binding	GO:1901265	1.96
nucleoside binding	GO:0001882	2.21
ATPase coupled ion transmembrane transporter activity	GO:0042625	5.46
ATPase activity, coupled to transmembrane movement of substances	GO:0042626	5.06
hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances	GO:0016820	5.03
monovalent inorganic cation transmembrane transporter activity	GO:0015077	3.87
pyrophosphatase activity	GO:0016462	3.04
ATP-activated inward rectifier potassium channel activity	GO:0015272	8.13
anion transmembrane transporter activity	GO:0008509	4.43
ligand-gated ion channel activity	GO:0015276	4.8
anion transmembrane-transporting ATPase activity	GO:0043225	7.34
nucleotide binding	GO:0000166	1.96
primary active transmembrane transporter activity	GO:0015399	4.98
voltage-gated cation channel activity	GO:0022843	4.83
ribonucleoside binding	GO:0032549	2.22
purine nucleotide binding	GO:0017076	2.19
metal ion transmembrane transporter activity	GO:0046873	3.71
ATP binding	GO:0005524	2.43
active transmembrane transporter activity	GO:0022804	3.85
hydrolase activity	GO:0016787	1.9
transmembrane transporter activity	GO:0022857	2.82
	GO:0008281	9.05
transporter activity	GO:0005215	2.57
ion channel activity	GO:0005216	3.71
cation transmembrane transporter activity	GO:0008324	3.32
nucleoside-triphosphatase activity	GO:0017111	3.09
SNARE binding	GO:0000149	4.87
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
substrate-specific transporter activity	GO:0022892	2.72
syntaxin binding	GO:0019905	5.19
passive transmembrane transporter activity	GO:0022803	3.6
substrate-specific transmembrane transporter activity	GO:0022891	2.9
inorganic cation transmembrane transporter activity	GO:0022890	3.49
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	GO:0016818	3.03
substrate-specific channel activity	GO:0022838	3.67
protein binding	GO:0005515	0.46
adenyl nucleotide binding	GO:0030554	2.4
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
ATPase activity, coupled to movement of substances	GO:0043492	4.93
ATPase activity, coupled	GO:0042623	3.97
voltage-gated potassium channel activity	GO:0005249	5.24
hydrolase activity, acting on acid anhydrides	GO:0016817	3.03
P-P-bond-hydrolysis-driven transmembrane transporter activity	GO:0015405	4.98
ion transmembrane transporter activity	GO:0015075	3.04
voltage-gated channel activity	GO:0022832	4.49
transmembrane signaling receptor activity	GO:0004888	2.57
channel activity	GO:0015267	3.6
adenyl ribonucleotide binding	GO:0032559	2.41
gated channel activity	GO:0022836	3.96
active ion transmembrane transporter activity	GO:0022853	5.06
ligand-gated channel activity	GO:0022834	4.8
purine ribonucleotide binding	GO:0032555	2.2
voltage-gated ion channel activity	GO:0005244	4.49
potassium ion transmembrane transporter activity	GO:0015079	4.77
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19
receptor activity	GO:0004872	2.32