Gene table of ABCG8 : ATP binding cassette subfamily G member 8

Gene-disease associations table

Disease ID	Disease name	Source of annotation with ABCG8	OMIM link	Number of associated genes	genes
210250	SITOSTEROLEMIA	ClinVar, OMIM, HUMSAVAR	link to OMIM	2	ABCG5, ABCG8
PS600803	GALLBLADDER DISEASE	ClinVar, OMIM	link to OMIM	2	ABCG8, ABCB4

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Annotation of the gene ABCG8

Associated genes in ENSEMBL

ENSG00000143921

Associated proteins - SwissProt Accession ID

Q9H221

Associated PDB IDs

5do7

Cytogenetic Band

2p21

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
ABC transporters	hsa02010	7.28
Fat digestion and absorption	hsa04975	7.45
Bile secretion	hsa04976	6.56

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Trafficking of dietary sterols	R-HSA-265473	11.4
ABC-family proteins mediated transport	R-HSA-382556	7.59
Transmembrane transport of small molecules	R-HSA-382551	3.79
ABC transporters in lipid homeostasis	R-HSA-1369062	9.08
Metabolism	R-HSA-1430728	2.34
Lipid digestion, mobilization, and transport	R-HSA-73923	7.2
Metabolism of lipids and lipoproteins	R-HSA-556833	3.79

Associated GO terms for Molecular function

GO term	GO ID	GO IC
purine ribonucleoside triphosphate binding	GO:0035639	2.22
cholesterol transporter activity	GO:0017127	7.17
binding	GO:0005488	0.18
ATPase activity	GO:0016887	3.65
heterocyclic compound binding	GO:1901363	1.06
purine nucleoside binding	GO:0001883	2.22
nucleoside binding	GO:0001882	2.21
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
ATPase activity, coupled	GO:0042623	3.97
nucleotide binding	GO:0000166	1.96
primary active transmembrane transporter activity	GO:0015399	4.98
nucleoside phosphate binding	GO:1901265	1.96
ribonucleoside binding	GO:0032549	2.22
purine nucleotide binding	GO:0017076	2.19
active transmembrane transporter activity	GO:0022804	3.85
lipid transporter activity	GO:0005319	5.03
hydrolase activity	GO:0016787	1.9
transporter activity	GO:0005215	2.57
nucleoside-triphosphatase activity	GO:0017111	3.09
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
protein dimerization activity	GO:0046983	2.72
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	GO:0016818	3.03
substrate-specific transporter activity	GO:0022892	2.72
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
hydrolase activity, acting on acid anhydrides	GO:0016817	3.03
P-P-bond-hydrolysis-driven transmembrane transporter activity	GO:0015405	4.98
pyrophosphatase activity	GO:0016462	3.04
transmembrane transporter activity	GO:0022857	2.82
adenyl ribonucleotide binding	GO:0032559	2.41
ATP binding	GO:0005524	2.43
protein binding	GO:0005515	0.46
purine ribonucleotide binding	GO:0032555	2.2
sterol transporter activity	GO:0015248	6.85
protein heterodimerization activity	GO:0046982	3.64
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19