Gene Facts External Data Attribution

HGNC Symbol
ABCB4 (HGNC:45) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
ATP binding cassette subfamily B member 4
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
PGY3, MDR3
Alias symbols
MDR2, PFIC-3, GBD1
%HI
32.55(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.51(Read more about gnomAD LOEUF score)
Cytoband
7q21.12
Genomic Coordinates
GRCh37/hg19: chr7:87031012-87104996 NCBI Ensembl UCSC
GRCh38/hg38: chr7:87365896-87476027 NCBI Ensembl UCSC
MANE Select Transcript
NM_000443.4 ENST00000649586.2 (Read more about MANE Select)
Function
[Isoform 1]: Energy-dependent phospholipid efflux translocator that acts as a positive regulator of biliary lipid secretion. Functions as a floppase that translocates specifically phosphatidylcholine (PC) from the inner to the outer leaflet of the canalicular membrane bilayer into the canaliculi of hepatocytes. Translocation of PC makes the biliary phospholipids available for extraction into the canaliculi lumen by bile salt mixed micelles and therefore protects the biliary tree from the deterge... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-14023
Curation Status:
Under Primary Review
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Under Primary Review
Triplosensitivity:
Under Primary Review
Last Evaluated:
Under Primary Review

Haploinsufficiency (HI) Score Details

Review not yet complete.

Triplosensitivity (TS) Score Details

Review not yet complete.

Genomic View

Select assembly: (NC_000007.13) (NC_000007.14)