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

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; 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: mouse all
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Genomic context

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_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Structural Analysis of Cholesterol Binding and Sterol Selectivity by ABCG5/G8.
Title: Structural Analysis of Cholesterol Binding and Sterol Selectivity by ABCG5/G8.
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.
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.
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.
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.
Recent advances in ABCG5 and ABCG8 variants.
Title: Recent advances in ABCG5 and ABCG8 variants.
ABCG5 and ABCG8 gene variations associated with sitosterolemia and platelet dysfunction.
Title: ABCG5 and ABCG8 gene variations associated with sitosterolemia and platelet dysfunction.
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.
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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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D2S119 (e-PCR), detects polymorphism
- UniSTS:40506

RH104294 (e-PCR)
- UniSTS:98619

G29195 (e-PCR)
- UniSTS:47955

ABCG8_1950 (e-PCR)
- UniSTS:280427

D2S2928 (e-PCR)
- UniSTS:63123

D2S119 (e-PCR), detects polymorphism
- UniSTS:27325

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

NG_008884.2 RefSeqGene

Range

12030..56047

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1182

mRNA and Protein(s)

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
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