help  | about  | cite  | software

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:
  • PGY4,
  • PFIC2,
  • bile salt export pump,
  • ABC16,
  • ABC member 16, MDR/TAP subfamily,
  • ABC16,
  • OTTHUMG00000154039,
  • ABCB11,
  • BRIC2,
  • ATP-binding cassette, sub-family B (MDR/TAP), member 11,
  • PFIC-2,
  • NM_003742,
  • BSEP,
  • uc002ueo.2,
  • SPGP,
  • SPGP,
  • PFIC2,
  • progressive familial intrahepatic cholestasis 2,
  • PFIC-2,
  • AF091582,
  • HGNC:42,
  • BSEP,
  • PGY4
  • identifiers:
  • 8647,
  • ENSG00000073734,
  • ABCB11

Genome feature

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

Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer


Gene Ontology Displayer

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.


Gene --> Proteins.


Gene Report --> GWAS hit


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]


Homologue Displayer


Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions


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

Gene Ontology

Gene --> GO terms.



7 SNPs

5 Cross References

19 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results