ABCG8 - ATP binding cassette subfamily G member 8 Gene

Also Known as GBD4; STSL; STSL1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 64241

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	References	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	References	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	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

Pre-clinical Phase

Bioactive Molecules (6)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-N0288	Lycorine		99.98%	Unkown
HY-N0288R	Lycorine (Standard)		99.54%	Unkown
HY-RS00082	ABCG8 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-181520	ABCA1 inducer 3	Inducer	/	Unkown
HY-RS18052	Abcg8 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24526	Abcg8 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	ABCG8	NCBI