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Gene : ABCB11 Homo sapiens

Name  ? ATP binding cassette subfamily B member 11 Cytological Location  2q31.1
Brief Description  ATP binding cassette subfamily B member 11
Description  The membrane-associated 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 MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is the major canalicular bile salt export pump in man. Mutations in this gene cause a form of progressive familial intrahepatic cholestases which are a group of inherited disorders with severe cholestatic liver disease from early infancy. [provided by RefSeq, Jul 2008]
  • synonyms:
  • BSEP,
  • PGY4,
  • PGY4,
  • NM_003742,
  • ATP-binding cassette, sub-family B (MDR/TAP), member 11,
  • bile salt export pump,
  • PFIC-2,
  • BSEP,
  • PFIC2,
  • PFIC2,
  • ABC member 16, MDR/TAP subfamily,
  • BRIC2,
  • ABCB11,
  • SPGP,
  • SPGP,
  • AF091582,
  • HGNC:42,
  • PFIC-2,
  • OTTHUMG00000154039,
  • uc002ueo.2,
  • ABC16,
  • progressive familial intrahepatic cholestasis 2,
  • ABC16
  • identifiers:
  • 8647,
  • ENSG00000073734,
  • ABCB11

Genome feature

Region: gene ? Length: 115929  
Location: 2:168915468-169031396 reverse strand Cyto location: 2q31.1


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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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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

7 SN Ps

5 Cross References

20 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results