ABCB11 Chromosome 2
ATP binding cassette subfamily B member 11
Upload your DNA to see your personal genotypes for variants in ABCB11.
What This Gene Does
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]
Gene Info
Gene Group
ATP binding cassette subfamily B
Locus Type
gene with protein product
Location
2q31.1
Ensembl
ENSG00000073734
Associated Conditions (18)
Progressive familial intrahepatic cholestasis type 2
ABCB11-related disorder
Benign recurrent intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis
Inborn genetic diseases
Cholestasis
intrahepatic
of pregnancy
3
Progressive familial intrahepatic cholestasis type 1
Familial intrahepatic cholestasis type 2
Abnormal liver function tests during pregnancy
Pruritus
Intrahepatic cholestasis
See cases
progressive familial intrahepatic
4
Progressive familial intrahepatic cholestasis type 3
Key Variants
RS1014304470
Conflicting classifications of pathogenicity
Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
Health Risk
RS1033490064
Conflicting classifications of pathogenicity
Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
Health Risk
RS1057164807
Conflicting classifications of pathogenicity
Health Risk
RS11568360
Conflicting classifications of pathogenicity
Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
Health Risk
RS11568362
Conflicting classifications of pathogenicity
Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
Health Risk
RS11568365
Conflicting classifications of pathogenicity
ABCB11-related disorder, Progressive familial intrahepatic cholestasis type 2, ABCB11-related disorder
Health Risk
RS1171209104
Conflicting classifications of pathogenicity
Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
Health Risk
RS1174260635
Conflicting classifications of pathogenicity
Health Risk
RS1227759001
Conflicting classifications of pathogenicity
Health Risk
RS1244153418
Conflicting classifications of pathogenicity
Progressive familial intrahepatic cholestasis type 2, ABCB11-related disorder, Progressive familial intrahepatic cholestasis type 2
Health Risk
RS1258387740
Conflicting classifications of pathogenicity
Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
Health Risk
RS1366346212
Conflicting classifications of pathogenicity
Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
Health Risk
All Variants (366)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS72549395 | Health Risk | Pathogenic/Likely pathogenic | Progressive familial intrahepatic cholestasis type 2, ABCB11-related disorder, Benign recurrent intrahepatic cholestasis type 2 |
| RS72549396 | Health Risk | Pathogenic/Likely pathogenic | Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2 |
| RS748862206 | Health Risk | Pathogenic/Likely pathogenic | Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS751446926 | Health Risk | Pathogenic/Likely pathogenic | Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2 |
| RS752043324 | Health Risk | Pathogenic/Likely pathogenic | Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis, ABCB11-related disorder |
| RS752992432 | Health Risk | Pathogenic/Likely pathogenic | Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS760750012 | Health Risk | Pathogenic/Likely pathogenic | Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis, Progressive familial intrahepatic cholestasis type 2 |
| RS764581483 | Health Risk | Pathogenic/Likely pathogenic | Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2, ABCB11-related disorder |
| RS769910565 | Health Risk | Pathogenic/Likely pathogenic | Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2, Cholestasis |
| RS769983873 | Health Risk | Pathogenic/Likely pathogenic | Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS772294884 | Health Risk | Pathogenic/Likely pathogenic | Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 3, Progressive familial intrahepatic cholestasis |
| RS778415287 | Health Risk | Pathogenic/Likely pathogenic | Progressive familial intrahepatic cholestasis, Progressive familial intrahepatic cholestasis |
| RS886043875 | Health Risk | Pathogenic/Likely pathogenic | Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2 |
| RS886043986 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS959196154 | Health Risk | Pathogenic/Likely pathogenic | Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS979738325 | Health Risk | Pathogenic/Likely pathogenic | Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 1 |