ABCB11 |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- ABCB11 (HGNC:42) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- ATP binding cassette subfamily B member 11
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- BSEP, PFIC2
- Alias symbols
- ABC16, SPGP, PFIC-2, PGY4
- %HI
- 30.88(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.64(Read more about gnomAD LOEUF score)
- Cytoband
- 2q31.1
- Genomic Coordinates
-
GRCh37/hg19: chr2:169777291-169887834 NCBI Ensembl UCSC GRCh38/hg38: chr2:168915390-169031324 NCBI Ensembl UCSC - MANE Select Transcript
- NM_003742.4 ENST00000650372.1 (Read more about MANE Select)
- Function
- Catalyzes the transport of the major hydrophobic bile salts, such as taurine and glycine-conjugated cholic acid across the canalicular membrane of hepatocytes in an ATP-dependent manner, therefore participates in hepatic bile acid homeostasis and consequently to lipid homeostasis through regulation of biliary lipid secretion in a bile salts dependent manner (PubMed:16332456, PubMed:22262466, PubMed:15791618, PubMed:18985798, PubMed:19228692, PubMed:20398791, PubMed:24711118, PubMed:29507376, Pub... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-36176
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
07/08/2020
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- progressive familial intrahepatic cholestasis type 2 Monarch
HI Evidence Comments:
Homozygous/compound heterozygous variants cause bile salt export pump (BSEP) deficiency, with severe deficiency categorized as progressive familial intrahepatic cholestasis. Strautnieks et al (PMID 18395098) described 82 different ABCB11 variants in 109 familes, including 9 nonsense, 10 small insertions/deletions, 15 splice site, 3 whole-gene deletions, and 45 missesnse changes. Fifteen percent (19/128) developed hepatocellular carcinoma (HCC) or cholangiocarcinoma (CC). Correlation with genotype identified those with 2 loss of function (LOF) variants being at particular risk, with thirty-eight percent (8/21) with 2 predicted LOF variants developing malignancy versus 10% of patients (11/107) with potentially less severe defects, giving a relative risk of 3.7 (confidence limits, 1.7– 8.1; P = .003). Only one individual with 1 splice site (c.908+1G>T) and NO second variant detected, who developed HCC (same as IVS9+1G>T from PMID; 16871584).
While biallelic LOF variants appear to lead to a greater phenotype, currently no evidence of phenotype in carriers due to haploinsufficiency.
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
no evidence for triplosensitivity
Genomic View
Select assembly:
(NC_000002.11)
(NC_000002.12)