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Gene : ABCG8 Homo sapiens

Name  ? ATP binding cassette subfamily G member 8 Cytological Location  2p21
Brief Description  ATP binding cassette subfamily G member 8
Description  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]
  • synonyms:
  • sterolin 2,
  • NM_022437,
  • GBD4,
  • OTTHUMG00000128756,
  • AF320294,
  • GBD4,
  • STSL,
  • ABCG8,
  • gallbladder disease 4,
  • STSL1,
  • ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2),
  • HGNC:13887,
  • uc002rtq.3,
  • ATP-binding cassette, sub-family G (WHITE), member 8
  • identifiers:
  • 64241,
  • ENSG00000143921,
  • ABCG8

Genome feature

Region: gene ? Length: 51047  
Location: 2:43831942-43882988 Cyto location: 2p21


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

231 SN Ps

5 Cross References

19 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results