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ABCG5 ATP binding cassette subfamily G member 5 [ Homo sapiens (human) ]

Gene ID: 64240, updated on 16-Apr-2024

Summary

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Official Symbol
ABCG5provided by HGNC
Official Full Name
ATP binding cassette subfamily G member 5provided by HGNC
Primary source
HGNC:HGNC:13886
See related
Ensembl:ENSG00000138075 MIM:605459; AllianceGenome:HGNC:13886
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
STSL; STSL2
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 as a half-transporter to limit intestinal absorption and promote biliary excretion of sterols. It is expressed in a tissue-specific manner in the liver, colon, and intestine. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG8. Mutations in this gene may contribute to sterol accumulation and atheroschlerosis, and have been observed in patients with sitosterolemia. [provided by RefSeq, Jul 2008]
Expression
Biased expression in duodenum (RPKM 25.9), small intestine (RPKM 24.3) and 1 other tissue See more
Orthologs
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Genomic context

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See ABCG5 in Genome Data Viewer
Location:
2p21
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (43806211..43839231, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (43810586..43844196, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (44039611..44065978, complement)

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 uncharacterized LOC102725159 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11428 Neighboring gene ATP binding cassette subfamily G member 8 Neighboring gene RNA, U6 small nuclear 1048, pseudogene Neighboring gene leucine rich pentatricopeptide repeat containing

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
  • 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. Children with Severe Hypercholesterolemia Caused by a Pathogenic Mutation in ABCG5. Tada H, et al. Intern Med, 2023 Jan 15. PMID 35705271, Free PMC Article
  2. Heterozygous ABCG5 Gene Deficiency and Risk of Coronary Artery Disease. Nomura A, et al. Circ Genom Precis Med, 2020 Oct. PMID 32862661, Free PMC Article
  3. ABCG5/G8 gene is associated with hypercholesterolemias without mutation in candidate genes and noncholesterol sterols. Lamiquiz-Moneo I, et al. J Clin Lipidol, 2017 Nov-Dec. PMID 29066094
  4. Two novel variants of the ABCG5 gene cause xanthelasmas and macrothrombocytopenia: a brief review of hematologic abnormalities of sitosterolemia. Bastida JM, et al. J Thromb Haemost, 2017 Sep. PMID 28696550
  5. A Rare Coincidence of Sitosterolemia and Familial Mediterranean Fever Identified by Whole Exome Sequencing. Tada H, et al. J Atheroscler Thromb, 2016 Jul 1. PMID 27170062, Free PMC Article

See all (122) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Molecular and computational characterization of ABCB11 and ABCG5 variants in Tunisian patients with neonatal/infantile low-GGT intrahepatic cholestasis: Genetic diagnosis and genotype-phenotype correlation assessment.
    Title: Molecular and computational characterization of ABCB11 and ABCG5 variants in Tunisian patients with neonatal/infantile low-GGT intrahepatic cholestasis: Genetic diagnosis and genotype-phenotype correlation assessment.
  2. 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.
  3. Children with Severe Hypercholesterolemia Caused by a Pathogenic Mutation in ABCG5.
    Title: Children with Severe Hypercholesterolemia Caused by a Pathogenic Mutation in ABCG5.
  4. Structural Analysis of Cholesterol Binding and Sterol Selectivity by ABCG5/G8.
    Title: Structural Analysis of Cholesterol Binding and Sterol Selectivity by ABCG5/G8.
  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. Heterozygous ABCG5 Gene Deficiency and Risk of Coronary Artery Disease.
    Title: Heterozygous ABCG5 Gene Deficiency and Risk of Coronary Artery Disease.
Submit: New GeneRIF Correction See all GeneRIFs (87)

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
Sitosterolemia 2
MedGen: C5231453 OMIM: 618666 GeneReviews: Not available
Compare labs

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
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
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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

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 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 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 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 response to ionizing radiation 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 IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of ATP-binding cassette (ABC) transporter complex IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in apical plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
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 IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
ATP-binding cassette sub-family G member 5
Names
ATP-binding cassette, sub-family G (WHITE), member 5
sterolin 1

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_008883.1 RefSeqGene

    Range
    4981..31348
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1181

mRNA and Protein(s)

  1. NM_022436.3 → NP_071881.1  ATP-binding cassette sub-family G member 5

    See identical proteins and their annotated locations for NP_071881.1

    Status: REVIEWED

    Source sequence(s)
    AC108476, AF312715
    Consensus CDS
    CCDS1814.1
    UniProtKB/Swiss-Prot
    Q2T9G2, Q96QZ2, Q96QZ3, Q9H222
    UniProtKB/TrEMBL
    Q53QN9
    Related
    ENSP00000384513.2, ENST00000405322.8
    Conserved Domains (2) summary
    cd03234
    Location:50 → 275
    ABCG_White; White pigment protein homolog of ABCG transporter subfamily
    TIGR00955
    Location:60 → 645
    3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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
    43806211..43839231 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006712073.4 → XP_006712136.1  ATP-binding cassette sub-family G member 5 isoform X2

    UniProtKB/TrEMBL
    Q53QN9
    Conserved Domains (3) summary
    cd03234
    Location:50 → 275
    ABCG_White; White pigment protein homolog of ABCG transporter subfamily
    COG1122
    Location:66 → 286
    EcfA2; Energy-coupling factor transporter ATP-binding protein EcfA2 [Inorganic ion transport and metabolism, General function prediction only]
    pfam01061
    Location:371 → 578
    ABC2_membrane; ABC-2 type transporter

  2. XM_047445410.1 → XP_047301366.1  ATP-binding cassette sub-family G member 5 isoform X7

  3. XM_047445409.1 → XP_047301365.1  ATP-binding cassette sub-family G member 5 isoform X3

  4. XM_011533026.3 → XP_011531328.1  ATP-binding cassette sub-family G member 5 isoform X4

    UniProtKB/TrEMBL
    Q53QN9
    Conserved Domains (3) summary
    TIGR00955
    Location:60 → 555
    3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein
    pfam01061
    Location:281 → 488
    ABC2_membrane; ABC-2 type transporter
    cl21455
    Location:50 → 211
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  5. XM_011533024.3 → XP_011531326.1  ATP-binding cassette sub-family G member 5 isoform X1

    UniProtKB/TrEMBL
    Q53QN9
    Conserved Domains (3) summary
    cd03234
    Location:50 → 275
    ABCG_White; White pigment protein homolog of ABCG transporter subfamily
    TIGR00955
    Location:60 → 600
    3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein
    pfam01061
    Location:395 → 533
    ABC2_membrane; ABC-2 type transporter

  6. XM_005264480.5 → XP_005264537.1  ATP-binding cassette sub-family G member 5 isoform X5

    UniProtKB/TrEMBL
    Q53QN9
    Conserved Domains (3) summary
    cd03234
    Location:50 → 275
    ABCG_White; White pigment protein homolog of ABCG transporter subfamily
    COG1122
    Location:66 → 286
    EcfA2; Energy-coupling factor transporter ATP-binding protein EcfA2 [Inorganic ion transport and metabolism, General function prediction only]
    pfam01061
    Location:371 → 549
    ABC2_membrane; ABC-2 type transporter

  7. XM_011533025.4 → XP_011531327.1  ATP-binding cassette sub-family G member 5 isoform X3

    UniProtKB/TrEMBL
    Q53QN9
    Conserved Domains (3) summary
    cd03234
    Location:1 → 194
    ABCG_White; White pigment protein homolog of ABCG transporter subfamily
    TIGR00955
    Location:1 → 564
    3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein
    pfam01061
    Location:290 → 497
    ABC2_membrane; ABC-2 type transporter

  8. XM_011533027.4 → XP_011531329.1  ATP-binding cassette sub-family G member 5 isoform X6

    Conserved Domains (2) summary
    pfam01061
    Location:200 → 407
    ABC2_membrane; ABC-2 type transporter
    cl21455
    Location:2 → 104
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  9. XM_047445411.1 → XP_047301367.1  ATP-binding cassette sub-family G member 5 isoform X8

    Related
    ENST00000644754.1

  10. XM_011533028.3 → XP_011531330.1  ATP-binding cassette sub-family G member 5 isoform X9

    Conserved Domains (1) summary
    pfam01061
    Location:92 → 299
    ABC2_membrane; ABC-2 type transporter

  11. XM_006712074.4 → XP_006712137.1  ATP-binding cassette sub-family G member 5 isoform X10

    Conserved Domains (2) summary
    cd03234
    Location:50 → 275
    ABCG_White; White pigment protein homolog of ABCG transporter subfamily
    COG1122
    Location:66 → 286
    EcfA2; Energy-coupling factor transporter ATP-binding protein EcfA2 [Inorganic ion transport and metabolism, General function prediction only]

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    43810586..43844196 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054343355.1 → XP_054199330.1  ATP-binding cassette sub-family G member 5 isoform X7

  2. XM_054343351.1 → XP_054199326.1  ATP-binding cassette sub-family G member 5 isoform X2

  3. XM_054343356.1 → XP_054199331.1  ATP-binding cassette sub-family G member 5 isoform X8

  4. XM_054343352.1 → XP_054199327.1  ATP-binding cassette sub-family G member 5 isoform X3

  5. XM_054343353.1 → XP_054199328.1  ATP-binding cassette sub-family G member 5 isoform X4

  6. XM_054343350.1 → XP_054199325.1  ATP-binding cassette sub-family G member 5 isoform X1

  7. XM_054343354.1 → XP_054199329.1  ATP-binding cassette sub-family G member 5 isoform X5

  8. XM_054343357.1 → XP_054199332.1  ATP-binding cassette sub-family G member 5 isoform X9

  9. XM_054343358.1 → XP_054199333.1  ATP-binding cassette sub-family G member 5 isoform X10

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H222.1 GenPept UniProtKB/Swiss-Prot:Q9H222

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