ABCG8 - ATP binding cassette subfamily G member 8 Gene

Homo sapiens

Also known as GBD4; STSL; STSL1

Gene ID: 64241 | Gene type: protein coding

About ABCG8

Cytogenetic location: 2p21 Genomic coordinates (GRCh38): 2:43,838,971-43,882,988 (from NCBI)

This gene has 3 transcripts (splice variants), 202 orthologues, 4 paralogues and is associated with 5 phenotypes. Biased expression in small intestine (RPKM 17.4), duodenum (RPKM 17.0) and 1 other tissue.

Summary

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 to exclude non-cholesterol sterol entry at the intestinal level, promote excretion of Cholesterol and sterols into bile, and to facilitate transport of sterols back into the intestinal lumen. It is expressed in a tissue-specific manner in the liver, intestine, and gallbladder. 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. [provided by RefSeq, Jul 2008]

ABCG8 Products(2)

mRNA	Protein	Name
NM_001357321.2	NP_001344250.1	ATP-binding cassette sub-family G member 8 isoform 2
NM_022437.3	NP_071882.1	ATP-binding cassette sub-family G member 8 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
contributes to ATP binding	IDA IDA: Inferred from direct assay	16893193	GOA
contributes to ATP hydrolysis activity	IDA IDA: Inferred from direct assay	16893193	GOA
enables ATPase-coupled transmembrane transporter activity	IDA IDA: Inferred from direct assay	27144356	GOA
contributes to cholesterol transfer activity	IGI IGI: Inferred from genetic interaction	14504269	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16870176	GOA
enables protein heterodimerization activity	IPI IPI: Inferred from physical interaction	16870176	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cholesterol efflux	IGI IGI: Inferred from genetic interaction	14504269	GOA
involved in cholesterol efflux	IMP IMP: Inferred from mutant phenotype	27144356	GOA
involved in cholesterol homeostasis	IMP IMP: Inferred from mutant phenotype	11099417	GOA
involved in negative regulation of intestinal cholesterol absorption	IMP IMP: Inferred from mutant phenotype	11099417	GOA
involved in negative regulation of intestinal phytosterol absorption	IMP IMP: Inferred from mutant phenotype	11099417	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of ATP-binding cassette (ABC) transporter complex	IDA IDA: Inferred from direct assay	16893193	GOA
located in apical plasma membrane	IMP IMP: Inferred from mutant phenotype	14504269	GOA
part of receptor complex	IDA IDA: Inferred from direct assay	14504269	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ABCG8 Protein Structure

ABC_tran

ABC2_membrane

0
200
400
600
673 a.a.

Protein Preferred Names

Protein Names

ATP-binding cassette sub-family G member 8

ATP-binding cassette, sub-family G (WHITE), member 8

ABCG8 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	ABCG8	Q9H221	MESD	Homo sapiens	Q14696	Y2H Prey Pooling	32296183
Intra	ABCG8	Q9H221	MESD	Homo sapiens	Q14696	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Sitosterolemia 1

Phytosterolemia	STSL1
Stsl	Shellfish Sterolemia

Gallbladder Disease 4

GBD4	Gallbladder Disease, Type 4

Sitosterolemia

Phytosterolemia	Beta-Sitosterolemia
Plant Sterol Storage Disease	Phytosterolæmia
Sitosterolæmia	Retention Of Dietary Cholesterol And Abnormal Retention Of Non-Cholesterol Sterols In The Body
Phytosterolaemia	Sitosterolaemia
Sitosterolemia With Xanthomatosis

Lipid Metabolism Disorder

Dyslipidemia	Disorder Of Fatty Acid Metabolism
Lipid Metabolism Disorders	Fatty Acid Metabolism Disorder
Disorder Of Lipid Metabolism	Abnormality Of Lipid Metabolism
Lipid Metabolism, Inborn Errors	Dyslipidemias
Disorders Of Lipid Metabolism	Congenital Disorders Of Lipid Metabolism
Inherited Disorders Of Lipid Metabolism

Cholelithiasis

Gallbladder Disease

Gallbladder Diseases	Gall Bladder
Gall Bladder Diseases	Abnormal Gallbladder Function

Homozygous Familial Hypercholesterolemia

Hofh

Cholestasis

Obstruction Of Bile Duct	Bile Duct Obstruction
Bile Occlusion	Extrahepatic Biliary Obstruction
Extrahepatic Bile Duct Obstruction	Bile Stasis
Biliary Stasis	Obstructive Hyperbilirubinemia
Obstructed Jaundice	Bile Duct Obstructed
Bile Ductal Obstruction	Biliary Duct Obstruction
Obstructed Bile Ductal	Obstructed Biliary Duct
Obstructed Biliary Ductal	Jaundice Regurgitation
Obstructive Jaundice	Cholestatic Jaundice
Cholestatic Jaundice Syndrome

Familial Hypercholesterolemia

Hyperlipoproteinemia Type Iia	Familial Hyperbetalipoproteinaemia
Familial Hypercholesteremia	Fredrickson Type Iia Hyperlipoproteinemia
Fredrickson Type Iia Lipidaemia	Hyperbetalipoproteinemia
Type Ii Hyperlipidemia	Familial Hypercholesterolæmia
Familial Hypercholesterolaemia	Fh
Hypercholesterolemia Familial	Hyperlipoproteinemia Type Ii
Hypercholesterolemia, Familial

Hypercholesterolemia, Familial, 4

Hypercholesterolemia, Autosomal Recessive	Arh
FHCL4	Autosomal Recessive Hypercholesterolemia
Arh1	Arh2
Autosomal Recessive Hypercholesterolemia 1	Autosomal Recessive Hypercholesterolemia 2
Fhcb1	Fhcb2
Hypercholesterolemia, Autosomal Recessive, 1, Formerly	Arh1, Formerly
Fhcb1, Formerly	Hypercholesterolemia, Autosomal Recessive, 2, Formerly
Arh2, Formerly	Fhcb2, Formerly
Familial Autosomal Recessive Hypercholesterolemia	Hypercholesterolemia, Familial, Autosomal Recessive
Hypercholesterolemia, Familial, Type 4

Cholestasis, Benign Recurrent Intrahepatic, 1

Benign Recurrent Intrahepatic Cholestasis	BRIC1
Summerskill Syndrome	Bric
Summerskill-Walshe-Tygstrup Syndrome	Cholestasis, Benign Recurrent Intrahepatic
Benign Recurrent Intrahepatic Cholestasis 1	Benign Recurrent Intrahepatic Cholestasis Type 1
Bric Type 1	Low Gamma-Gt Familial Intrahepatic Cholestasis
Recurrent Familial Intrahepatic Cholestasis	Cholestasis, Benign Recurrent Intrahepatic 1
Mild Atp8b1 Deficiency	Recurrent Familial Intrahepatic Cholestasis 1
Abcb11-Related Intrahepatic Cholestasis	Atp8b1-Related Intrahepatic Cholestasis
Cholestasis, Intrahepatic, Recurrent, Benign, Type 1	Progressive Intrahepatic Cholestasis
Cholestasis, Progressive Familial Intrahepatic 3	Bric - [Benign Recurrent Intrahepatic Cholestasis]

Sea-Blue Histiocyte Disease

Sea-Blue Histiocytosis	Sea-Blue Histiocyte Syndrome
Histiocytosis, Sea-Blue	Inherited Lipemic Splenomegaly
SBHD

Arcus Corneae

Arcus Senilis	Corneal Arcus
Arcus Of Cornea

Hypercholesterolemia, Familial, 1

Hypercholesterolemia	FHCL1
Fhc	Fh
Hyperlipoproteinemia, Type Ii	Hyperlipoproteinemia, Type Iia
Hyper-Low-Density-Lipoproteinemia	Hypercholesterolemic Xanthomatosis, Familial
Ldl Receptor Disorder	Hypercholesterolemia, Susceptibility To
Hypercholesterolemia, Familial, Modifier Of	Hypercholesterolemia, Familial, Due To Ldlr Defect, Modifier Of
Ldl Cholesterol Level Qtl2	Hyperlipoproteinemia Type Ii
Hypercholesterolemia, Familial, Type 1	High Cholesterol
Increased Cholesterol	Low-Density-Lipoid-Type Hyperlipoproteinemia
Pure Hypercholesterolaemia	Ldl - [Low Density Lipoprotein} Hyperlipoproteinemia
Group A Hyperlipidaemia	Pure Hypercholesterinaemia
Cholesterolaemia	Essential Cholesterolaemia
Essential Hypercholesterolaemia	Group A Hyperlipemia
Increased Low Density Lipoprotein	Low-Density-Lipoprotein-Type
Low-Density-Lipoprotein-Type Hyperlipoproteinemia

Cholestasis, Progressive Familial Intrahepatic, 3

PFIC3	Cholestasis, Progressive Familial Intrahepatic 3
Mdr3 Deficiency	Progressive Familial Intrahepatic Cholestasis Type 3
Progressive Familial Intrahepatic Cholestasis 3	Progressive Familial Intrahepatic Cholestasis With Elevated Serum Gamma-Glutamyltransferase
Cholestasis, Progressive Familial Intrahepatic, With Elevated Serum Gamma-Glutamyltransferase	Progressive Familial Intrahepatic Cholestasis With Elevated Serum Gama-Glutamyltransferase
Cholestasis, Intrahepatic, Familial, Progressive, Type 3

Cholecystolithiasis

Progressive Familial Intrahepatic Cholestasis

Abcb4-Related Intrahepatic Cholestasis	Cholestasis, Progressive Familial Intrahepatic
Pfic	Byler Disease
Abcb11-Related Intrahepatic Cholestasis	Atp8b1-Related Intrahepatic Cholestasis
Bsep Deficiency	Byler Disease
Byler Syndrome	Fic1 Deficiency
Low Γ-Gt Familial Intrahepatic Cholestasis	Mdr3 Deficiency
Pfic	Cholestasis, Intrahepatic, Familial, Progressive
Pfic - [Progressive Familial Intrahepatic Cholestasis]

Hypolipoproteinemia

Hypolipoproteinaemia	Lipoprotein Deficiencies
Lipoprotein Disorder	Hypolipoproteinemias
Lipoprotein	Lipoprotein Deficiency
Hypolipidaemia	Lipoprotein Deficiency Disorder
High-Density Lipoid Deficiency	High-Density Lipoprotein Deficiency
Dyslipidaemia, Depressed Hdl Cholesterol

Corneal Degeneration

Degenerative Corneal Opacity

Tangier Disease

Analphalipoproteinemia	High Density Lipoprotein Deficiency, Tangier Type
TGD	High Density Lipoprotein Deficiency, Type 1
Hdldt1	Familial High Density Lipoprotein Deficiency
A-Alphalipoprotein Neuropathy	Alpha High Density Lipoprotein Deficiency Disease
Cholesterol Thesaurismosis	Familial High Density Lipoprotein Deficiency Disease
Hdl Lipoprotein Deficiency Disease	Tangier Disease Neuropathy
Familial Alpha-Lipoprotein Deficiency	Familial High-Density Lipoprotein Deficiency 1
Primary Hypoalphalipoproteinemia 1	Analphalipo-Proteinemia
Familial Hypoalphalipo-Proteinemia	Familial Hypoalphalipoproteinemia
Lipoprotein Deficiency Disease, Hdl, Familial	Tangier Hereditary Neuropathy
Atp-Binding Cassette Transporter A1 Deficiency	Hdld1
High Density Lipoprotein Deficiency 1	Tangier Disease, Variant
Hypoalphalipoproteinemia, Familial	Familial Hdl Deficiency

Intrahepatic Cholestasis Of Pregnancy

Recurrent Intrahepatic Cholestasis Of Pregnancy	Gravidic Intrahepatic Cholestasis
Pregnancy-Related Cholestasis	Icp
Pregnancy Related Cholestasis	Cholestasis, Intrahepatic Of Pregnancy
Familial Intrahepatic Cholestasis Of Pregnancy	Familial Recurrent Intrahepatic Cholestasis Of Pregnancy
Ricp	Obstetric Cholestasis

Achromatopsia 7

ACHM7

Achromatopsia, Type 7

Thrombocytopenia

Low Platelet Count	Low Platelets
Decreased Platelets	Platelet Dysfunction Nos

Niemann-Pick Disease, Type C1

Niemann-Pick Disease, Type C	NPC1
Niemann-Pick Disease, Type D	Niemann-Pick Disease Type C1
Niemann-Pick Disease With Cholesterol Esterification Block	Niemann-Pick Disease, Subacute Juvenile Form
Neurovisceral Storage Disease With Vertical Supranuclear Ophthalmoplegia	Npc
Niemann-Pick Disease, Chronic Neuronopathic Form	Niemann-Pick Disease Without Sphingomyelinase Deficiency
Niemann-Pick Disease Type C	Niemann-Pick Disease Type D
Niemann-Pick C1 Disease	Niemann-Pick Disease C1
Niemann-Pick Disease Chronic Neuronopathic Form	Niemann-Pick Disease Nova Scotian Type
Niemann-Pick Disease Subacute Juvenile Form	Niemann-Pick Disease Type Ii
Niemann-Picks Disease Type C

Bilirubin Metabolic Disorder

Hyperbilirubinemia	Hereditary Hyperbilirubinemia
Hyperbilirubinemia, Hereditary	Hyperbilirubinaemia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-N0288	Lycorine		99.87%	Unkown
HY-RS00082	ABCG8 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	ABCG8	VGNC	VGNC:25486
Felis catus	ABCG8	VGNC	VGNC:59473
Mus musculus	ABCG8	MGD	MGI:1914720
Rattus norvegicus	ABCG8	RGD	RGD:620300
Macaca mulatta	ABCG8	VGNC	VGNC:69392
Canis familiaris	ABCG8	VGNC	VGNC:37455

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