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ABCG8

From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
ABCG8
Available structures
PDB Ortholog search: PDBe RCSB
List of PDB id codes

5DO7

Identifiers
Aliases ABCG8 , GBD4, STSL, ATP binding cassette subfamily G member 8, STSL1
External IDsOMIM: 605460; MGI: 1914720; HomoloGene: 23361; GeneCards: ABCG8; OMA:ABCG8 - orthologs
Gene location (Human)
Chromosome 2 (human)
Chr. Chromosome 2 (human) [1]
Band 2p21Start43,831,942 bp [1]
End43,882,988 bp [1]
Gene location (Mouse)
Chromosome 17 (mouse)
Chr. Chromosome 17 (mouse)[2]
Band 17 E4|17 55.02 cMStart84,983,730 bp [2]
End85,007,761 bp [2]
RNA expression pattern
Bgee
Human Mouse (ortholog)
Top expressed in
  • right lobe of liver

  • jejunal mucosa

  • duodenum

  • testicle

  • secondary oocyte

  • gallbladder

  • prefrontal cortex

  • Brodmann area 9

  • right frontal lobe

  • cingulate gyrus
Top expressed in
  • jejunum

  • duodenum

  • intestinal villus

  • left lobe of liver

  • ileum

  • epithelium of small intestine

  • embryo

  • tibiofemoral joint

  • Paneth cell

  • colon
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

64241

67470

Ensembl

ENSG00000143921

ENSMUSG00000024254

UniProt

Q9H221

Q9DBM0

RefSeq (mRNA)

NM_022437
NM_001357321

NM_001286005
NM_026180
NM_001347418

RefSeq (protein)

NP_071882
NP_001344250

NP_001272934
NP_001334347
NP_080456

Location (UCSC)Chr 2: 43.83 – 43.88 Mb Chr 17: 84.98 – 85.01 Mb
PubMed search[3] [4]
Wikidata
View/Edit Human View/Edit Mouse

ATP-binding cassette sub-family G member 8 is a protein that in humans is encoded by the ABCG8 gene.[5] [6] [7]

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 ABCG5. Mutations in this gene may contribute to sterol accumulation and atherosclerosis, and have been observed in patients with sitosterolemia.[7]

A loss-of-function mutation in ABCG8 impairs the removal of sterols from cells and, in the homozygous case, leads to sitosterolemia. Heterozygous individuals show slightly increased sterol absoption, normal cholesterol levels, and slightly elevated phytosterol levels.[8]

A gain-of-function SNP rs11887534 increases the likelihood of gallbladder disease, especially cholesterol gallstones. This is probably because more cholesterol is pumped into the bile lumen.[9]

Interactive pathway map

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Click on genes, proteins and metabolites below to link to respective articles. [§ 1]

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Statin pathway edit
  1. ^ The interactive pathway map can be edited at WikiPathways: "Statin_Pathway_WP430".

See also

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References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000143921 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000024254 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Berge KE, Tian H, Graf GA, Yu L, Grishin NV, Schultz J, et al. (December 2000). "Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters". Science. 290 (5497): 1771–1775. Bibcode:2000Sci...290.1771B. doi:10.1126/science.290.5497.1771. PMID 11099417.
  6. ^ Grünhage F, Acalovschi M, Tirziu S, Walier M, Wienker TF, Ciocan A, et al. (September 2007). "Increased gallstone risk in humans conferred by common variant of hepatic ATP-binding cassette transporter for cholesterol". Hepatology. 46 (3): 793–801. doi:10.1002/hep.21847 . PMID 17626266. S2CID 29517167.
  7. ^ a b "Entrez Gene: ABCG8 ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)".
  8. ^ Yoo EG (March 2016). "Sitosterolemia: a review and update of pathophysiology, clinical spectrum, diagnosis, and management". Annals of Pediatric Endocrinology & Metabolism. 21 (1): 7–14. doi:10.6065/apem.2016211.7. PMC 4835564 . PMID 27104173.
  9. ^ "Entry - #611465 - GALLBLADDER DISEASE 4; GBD4 - OMIM". www.omim.org.

Further reading

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This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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