ABCB11 ATP binding cassette subfamily B member 11
Gene ID: 8647, updated on 2-Nov-2024Gene type: protein coding
Also known as: BSEP; PGY4; SPGP; ABC16; BRIC2; PFIC2; PFIC-2
- See all available tests in GTR for this gene
- Go to complete Gene record for ABCB11
- Go to Variation Viewer for ABCB11 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium. GeneReviews: Not available | |
| Benign recurrent intrahepatic cholestasis type 2 | See labs |
| Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways. GeneReviews: Not available | |
| Discovery and refinement of loci associated with lipid levels. GeneReviews: Not available | |
| Genome-wide association analysis of metabolic traits in a birth cohort from a founder population. GeneReviews: Not available | |
| Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. GeneReviews: Not available | |
| Genome-wide meta-analysis of systolic blood pressure in children with sickle cell disease. GeneReviews: Not available | |
| Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits. GeneReviews: Not available | |
| Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians. GeneReviews: Not available | |
| Progressive familial intrahepatic cholestasis type 2 MedGen: C3489789OMIM: 601847GeneReviews: ATP8B1 Deficiency, Pediatric Genetic Cholestatic Liver Disease Overview | See labs |
| Variations in the G6PC2/ABCB11 genomic region are associated with fasting glucose levels. GeneReviews: Not available |
Genomic context
- Location:
- 2q31.1
- Sequence:
- Chromosome: 2; NC_000002.12 (168915390..169031324, complement)
- Total number of exons:
- 30
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ABCB11 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- CCHMC - Human Genetics Mutation Database
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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