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ABCG8 ATP binding cassette subfamily G member 8 [ Homo sapiens (human) ]

Gene ID: 64241, updated on 2-Nov-2024

Summary

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Official Symbol
ABCG8provided by HGNC
Official Full Name
ATP binding cassette subfamily G member 8provided by HGNC
Primary source
HGNC:HGNC:13887
See related
Ensembl:ENSG00000143921 MIM:605460; AllianceGenome:HGNC:13887
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GBD4; STSL; STSL1
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]
Expression
Biased expression in small intestine (RPKM 17.4), duodenum (RPKM 17.0) and 1 other tissue See more
Orthologs
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Genomic context

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See ABCG8 in Genome Data Viewer
Location:
2p21
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (43838971..43882988)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (43844302..43888321)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (44066110..44110127)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15680 Neighboring gene uncharacterized LOC105374571 Neighboring gene RN7SK pseudogene 66 Neighboring gene dynein cytoplasmic 2 light intermediate chain 1 Neighboring gene ATP binding cassette subfamily G member 5 Neighboring gene uncharacterized LOC102725159 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11428 Neighboring gene Sharpr-MPRA regulatory region 9630 Neighboring gene RNA, U6 small nuclear 1048, pseudogene Neighboring gene leucine rich pentatricopeptide repeat containing Neighboring gene RNA, 7SL, cytoplasmic 455, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Association of ATP binding cassette transporter G8 rs4148217 SNP and serum lipid levels in Mulao and Han nationalities. Li Q, et al. Lipids Health Dis, 2012 May 1. PMID 22548731, Free PMC Article
  2. ABCG8 polymorphisms and renal disease in type 2 diabetic patients. Nicolas A, et al. Metabolism, 2015 Jun. PMID 25804128
  3. Mutations in the ABCG8 gene are associated with sitosterolaemia in the homozygous form and xanthelasmas in the heterozygous form. Bardawil T, et al. Eur J Dermatol, 2017 Oct 1. PMID 28739549
  4. Effect of genetic variant (rs11887534) in ABCG8 gene in coronary artery disease and response to atorvastatin therapy. Srivastava A, et al. Dis Markers, 2010. PMID 20592455, Free PMC Article
  5. Hepatic cholesterol transporter ABCG8 polymorphisms in gallstone disease in an Indian population. Siddapuram SP, et al. J Gastroenterol Hepatol, 2010 Jun. PMID 20594224

See all (134) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Plasma campesterol and ABCG5/ABCG8 gene loci on the risk of cholelithiasis and cholecystitis: evidence from Mendelian randomization and colocalization analyses.
    Title: Plasma campesterol and ABCG5/ABCG8 gene loci on the risk of cholelithiasis and cholecystitis: evidence from Mendelian randomization and colocalization analyses.
  2. Structural Analysis of Cholesterol Binding and Sterol Selectivity by ABCG5/G8.
    Title: Structural Analysis of Cholesterol Binding and Sterol Selectivity by ABCG5/G8.
  3. Common variant p.D19H of the hepatobiliary sterol transporter ABCG8 increases the risk of gallstones in children.
    Title: Common variant p.D19H of the hepatobiliary sterol transporter ABCG8 increases the risk of gallstones in children.
  4. The association of cytochrome 7A1 and ATP-binding cassette G8 genotypes with type 2 diabetes among Jordanian patients.
    Title: The association of cytochrome 7A1 and ATP-binding cassette G8 genotypes with type 2 diabetes among Jordanian patients.
  5. Screening of ABCG5 and ABCG8 Genes for Sitosterolemia in a Familial Hypercholesterolemia Cascade Screening Program.
    Title: Screening of ABCG5 and ABCG8 Genes for Sitosterolemia in a Familial Hypercholesterolemia Cascade Screening Program.
  6. The Complex ABCG5/ABCG8 Regulates Vitamin D Absorption Rate and Contributes to its Efflux from the Intestine.
    Title: The Complex ABCG5/ABCG8 Regulates Vitamin D Absorption Rate and Contributes to its Efflux from the Intestine.
  7. Recent advances in ABCG5 and ABCG8 variants.
    Title: Recent advances in ABCG5 and ABCG8 variants.
  8. ABCG5 and ABCG8 gene variations associated with sitosterolemia and platelet dysfunction.
    Title: ABCG5 and ABCG8 gene variations associated with sitosterolemia and platelet dysfunction.
  9. NF-kappaB Regulation of LRH-1 and ABCG5/8 Potentiates Phytosterol Role in the Pathogenesis of Parenteral Nutrition-Associated Cholestasis.
    Title: NF-κB Regulation of LRH-1 and ABCG5/8 Potentiates Phytosterol Role in the Pathogenesis of Parenteral Nutrition-Associated Cholestasis.
  10. Risk of gallstones based on ABCG8 rs11887534 single nucleotide polymorphism among Taiwanese men and women.
    Title: Risk of gallstones based on ABCG8 rs11887534 single nucleotide polymorphism among Taiwanese men and women.
Submit: New GeneRIF Correction See all GeneRIFs (101)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Gallbladder disease 4
MedGen: C1969115 OMIM: 611465 GeneReviews: Not available
not available
Sitosterolemia 1
MedGen: C2749759 OMIM: 210250 GeneReviews: Sitosterolemia
not available

EBI GWAS Catalog

Description
A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease.
EBI GWAS Catalog
Biological, clinical and population relevance of 95 loci for blood lipids.
EBI GWAS Catalog
Common variants at 30 loci contribute to polygenic dyslipidemia.
EBI GWAS Catalog
Discovery and refinement of loci associated with lipid levels.
EBI GWAS Catalog
Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.
EBI GWAS Catalog
Genetic regulation of serum phytosterol levels and risk of coronary artery disease.
EBI GWAS Catalog
Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.
EBI GWAS Catalog
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
EBI GWAS Catalog

Variation

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See Variation Viewer (GRCh37.p13)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC142217

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ABC-type transporter activity IEA
Inferred from Electronic Annotation
more info
  
contributes_to ATP binding IDA
Inferred from Direct Assay
more info
 PubMed 
contributes_to ATP hydrolysis activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables ATPase-coupled transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables ATPase-coupled transmembrane transporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
contributes_to cholesterol transfer activity IBA
Inferred from Biological aspect of Ancestor
more info
  
contributes_to cholesterol transfer activity IGI
Inferred from Genetic Interaction
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein heterodimerization activity IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cholesterol efflux IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cholesterol efflux IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in cholesterol efflux IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cholesterol homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cholesterol homeostasis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in intestinal cholesterol absorption IC
Inferred by Curator
more info
 PubMed 
involved_in negative regulation of intestinal cholesterol absorption IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of intestinal phytosterol absorption IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in phospholipid transport IEA
Inferred from Electronic Annotation
more info
  
involved_in response to muscle activity IEA
Inferred from Electronic Annotation
more info
  
involved_in response to nutrient IEA
Inferred from Electronic Annotation
more info
  
involved_in response to xenobiotic stimulus IEA
Inferred from Electronic Annotation
more info
  
involved_in sterol transport ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in triglyceride homeostasis IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of ATP-binding cassette (ABC) transporter complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in apical plasma membrane IMP
Inferred from Mutant Phenotype
more info
 PubMed 
located_in apical plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  
part_of receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of receptor complex IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
ATP-binding cassette sub-family G member 8
Names
ATP-binding cassette, sub-family G (WHITE), member 8
sterolin 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008884.2 RefSeqGene

    Range
    12030..56047
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1182

mRNA and Protein(s)

  1. NM_001357321.2 → NP_001344250.1  ATP-binding cassette sub-family G member 8 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1
    Source sequence(s)
    AC108476, AF324494, BC143564
    UniProtKB/TrEMBL
    B7ZL41
    Conserved Domains (2) summary
    cd03234
    Location:60 → 295
    ABCG_White; White pigment protein homolog of ABCG transporter subfamily
    cl28180
    Location:88 → 662
    PRK10535; macrolide transporter ATP-binding /permease protein; Provisional

  2. NM_022437.3 → NP_071882.1  ATP-binding cassette sub-family G member 8 isoform 1

    See identical proteins and their annotated locations for NP_071882.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC108476
    Consensus CDS
    CCDS1815.1
    UniProtKB/Swiss-Prot
    Q53QN8, Q9H221
    UniProtKB/TrEMBL
    Q14CR0
    Related
    ENSP00000272286.2, ENST00000272286.4
    Conserved Domains (2) summary
    cd03234
    Location:60 → 295
    ABCG_White; White pigment protein homolog of ABCG transporter subfamily
    TIGR00955
    Location:88 → 663
    3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    43838971..43882988
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    43844302..43888321
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H221.1 GenPept UniProtKB/Swiss-Prot:Q9H221

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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