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

Gene ID: 64241, updated on 9-Oct-2021

Summary

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
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

See ABCG8 in Genome Data Viewer
Location:
2p21
Exon count:
15
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (43831942..43882988)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (44066110..44110127)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes 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 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

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease.
GeneReviews: Not available
Biological, clinical and population relevance of 95 loci for blood lipids.
GeneReviews: Not available
Common variants at 30 loci contribute to polygenic dyslipidemia.
GeneReviews: Not available
Discovery and refinement of loci associated with lipid levels.
GeneReviews: Not available
Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.
GeneReviews: Not available
Gallbladder disease 4
MedGen: C1969115 OMIM: 611465 GeneReviews: Not available
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Genetic regulation of serum phytosterol levels and risk of coronary artery disease.
GeneReviews: Not available
Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.
GeneReviews: Not available
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
GeneReviews: Not available
Sitosterolemia 1
MedGen: C5231390 OMIM: 210250 GeneReviews: Sitosterolemia
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Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 IDA
Inferred from Direct Assay
more info
PubMed 
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 bile acid signaling pathway IEA
Inferred from Electronic Annotation
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
PubMed 
involved_in cholesterol homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in excretion IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in intermembrane lipid transfer IEA
Inferred from Electronic Annotation
more info
 
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 IEA
Inferred from Electronic Annotation
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
 
located_in integral component of 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
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
part_of receptor complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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)

NEW Try the new Transcript table

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_001357321.2NP_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
    Conserved Domains (2) summary
    cd03234
    Location:60295
    ABCG_White; White pigment protein homolog of ABCG transporter subfamily
    cl28180
    Location:88662
    PRK10535; macrolide transporter ATP-binding /permease protein; Provisional
  2. NM_022437.3NP_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
    Q9H221
    Related
    ENSP00000272286.2, ENST00000272286.4
    Conserved Domains (2) summary
    cd03234
    Location:60295
    ABCG_White; White pigment protein homolog of ABCG transporter subfamily
    TIGR00955
    Location:88663
    3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    43831942..43882988
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011533029.2XP_011531331.1  ATP-binding cassette sub-family G member 8 isoform X1

    Conserved Domains (3) summary
    cd03234
    Location:64299
    ABCG_White; White pigment protein homolog of ABCG transporter subfamily
    TIGR00955
    Location:92667
    3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein
    pfam01061
    Location:406610
    ABC2_membrane; ABC-2 type transporter
  2. XM_011533030.2XP_011531332.1  ATP-binding cassette sub-family G member 8 isoform X2

    Conserved Domains (3) summary
    cd03234
    Location:64299
    ABCG_White; White pigment protein homolog of ABCG transporter subfamily
    TIGR00955
    Location:92666
    3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein
    pfam01061
    Location:405609
    ABC2_membrane; ABC-2 type transporter

RNA

  1. XR_939707.2 RNA Sequence

  2. XR_001738891.1 RNA Sequence

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