ABCG8 information

ABCG8
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	5DO7
Identifiers
Aliases	ABCG8, GBD4, STSL, ATP binding cassette subfamily G member 8, STSL1
External IDs	OMIM: 605460 MGI: 1914720 HomoloGene: 23361 GeneCards: ABCG8
Gene location (Human)
Chr.	Chromosome 2 (human)
End	43,882,988 bp
Gene location (Mouse)
Chr.	Chromosome 17 (mouse)
End	85,007,761 bp
RNA expression pattern
	Top expressed in
	right lobe of liver; ; jejunal mucosa; ; duodenum; ; secondary oocyte; ; gallbladder; ; prefrontal cortex; ; Brodmann area 9; ; cingulate gyrus; ; hypothalamus; ; nucleus accumbens;
	Top expressed in
	jejunum; ; duodenum; ; intestinal villus; ; left lobe of liver; ; ileum; ; Paneth cell; ; colon; ; tracheobronchial tree; ; trachea; ; pancreas;
	More reference expression data
	n/a
Gene ontology
Molecular function	ATPase activity; protein binding; ATP binding; ATPase-coupled transmembrane transporter activity; metal ion binding; cholesterol transfer activity; protein heterodimerization activity; xenobiotic transmembrane transporter activity; sterol transporter activity;
Cellular component	integral component of membrane; membrane; ATP-binding cassette (ABC) transporter complex; plasma membrane; apical plasma membrane; integral component of plasma membrane; receptor complex;
Biological process	negative regulation of intestinal phytosterol absorption; intestinal cholesterol absorption; negative regulation of intestinal cholesterol absorption; lipid transport; excretion; cholesterol efflux; cholesterol homeostasis; transmembrane transport; xenobiotic transmembrane transport; response to nutrient; phospholipid transport; sterol transport; sterol homeostasis;
	Sources:Amigo / QuickGO
Orthologs
	64241
	67470
	ENSG00000143921
	ENSMUSG00000024254
	Q9H221
	Q9DBM0
	NM_022437; NM_001357321
	NM_001286005; NM_026180; NM_001347418
	NP_071882; NP_001344250
	NP_001272934; NP_001334347; NP_080456
	Wikidata
View/Edit Human	View/Edit Mouse

ATP-binding cassette sub-family G member 8 is a protein that in humans is encoded by the ABCG8 gene.^[5]^[6]^[7]

The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. The protein encoded by this gene functions as a half-transporter to limit intestinal absorption and promote biliary excretion of sterols. It is expressed in a tissue-specific manner in the liver, colon, and intestine. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG5. Mutations in this gene may contribute to sterol accumulation and atherosclerosis, and have been observed in patients with sitosterolemia.^[7]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000143921 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000024254 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Berge KE, Tian H, Graf GA, Yu L, Grishin NV, Schultz J, Kwiterovich P, Shan B, Barnes R, Hobbs HH (Dec 2000). "Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters". Science. 290 (5497): 1771–5. Bibcode:2000Sci...290.1771B. doi:10.1126/science.290.5497.1771. PMID 11099417.
^ Grunhage F, Acalovschi M, Tirziu S, Walier M, Wienker TF, Ciocan A, Mosteanu O, Sauerbruch T, Lammert F (Sep 2007). "Increased gallstone risk in humans conferred by common variant of hepatic ATP-binding cassette transporter for cholesterol". Hepatology. 46 (3): 793–801. doi:10.1002/hep.21847. PMID 17626266. S2CID 29517167.
^ ^a ^b "Entrez Gene: ABCG8 ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)".

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000143921 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000024254 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid11099417-5] Berge KE, Tian H, Graf GA, Yu L, Grishin NV, Schultz J, Kwiterovich P, Shan B, Barnes R, Hobbs HH (Dec 2000). "Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters". Science. 290 (5497): 1771–5. Bibcode:2000Sci...290.1771B. doi:10.1126/science.290.5497.1771. PMID 11099417.

[pmid17626266-6] Grunhage F, Acalovschi M, Tirziu S, Walier M, Wienker TF, Ciocan A, Mosteanu O, Sauerbruch T, Lammert F (Sep 2007). "Increased gallstone risk in humans conferred by common variant of hepatic ATP-binding cassette transporter for cholesterol". Hepatology. 46 (3): 793–801. doi:10.1002/hep.21847. PMID 17626266. S2CID 29517167.

[entrez-7] "Entrez Gene: ABCG8 ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)".

ABCG8 information

and 14 Related for: ABCG8 information

ABCG8

Sterolin

ABCG5

Chromosome 2

Stanol ester

Sitosterolemia

Familial hypercholesterolemia

Hereditary stomatocytosis

Andre Franke

List of OMIM disorder codes

ABCA8

Study of Health in Pomerania

ABCD4

ABCA7