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 |
|---|---|---|---|
| RS72549402 | Health Risk | Pathogenic | Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2, ABCB11-related disorder |
| RS752919965 | Health Risk | Pathogenic | Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS755647308 | Health Risk | Pathogenic | Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2 |
| RS756323541 | Health Risk | Pathogenic | Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2 |
| RS756529333 | Health Risk | Pathogenic | Benign recurrent intrahepatic cholestasis type 2, ABCB11-related disorder, Progressive familial intrahepatic cholestasis type 2 |
| RS758069019 | Health Risk | Pathogenic | Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS763782349 | Health Risk | Pathogenic | Progressive familial intrahepatic cholestasis type 2, ABCB11-related disorder, Benign recurrent intrahepatic cholestasis type 2 |
| RS764125510 | Health Risk | Pathogenic | Familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2, Familial intrahepatic cholestasis type 2 |
| RS769134865 | Health Risk | Pathogenic | Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS774824767 | Health Risk | Pathogenic | Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS777119489 | Health Risk | Pathogenic | Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS866839234 | Health Risk | Pathogenic | Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2 |
| RS886043703 | Health Risk | Pathogenic | — |
| RS886043935 | Health Risk | Pathogenic | — |
| RS913644236 | Health Risk | Pathogenic | Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS972055625 | Health Risk | Pathogenic | — |
| RS111482608 | Health Risk | Pathogenic/Likely pathogenic | Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2 |
| RS1210590064 | Health Risk | Pathogenic/Likely pathogenic | Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS1231877314 | Health Risk | Pathogenic/Likely pathogenic | Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2 |
| RS1292921760 | Health Risk | Pathogenic/Likely pathogenic | Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS1371940395 | Health Risk | Pathogenic/Likely pathogenic | Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS139641883 | Health Risk | Pathogenic/Likely pathogenic | Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis, ABCB11-related disorder |
| RS1401892400 | Health Risk | Pathogenic/Likely pathogenic | Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS1418620415 | Health Risk | Pathogenic/Likely pathogenic | Progressive familial intrahepatic cholestasis, ABCB11-related disorder, Benign recurrent intrahepatic cholestasis type 2 |
| RS1447134419 | Health Risk | Pathogenic/Likely pathogenic | Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS147649016 | Health Risk | Pathogenic/Likely pathogenic | Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS1553466082 | Health Risk | Pathogenic/Likely pathogenic | Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS1558917090 | Health Risk | Pathogenic/Likely pathogenic | Benign recurrent intrahepatic cholestasis type 2, ABCB11-related disorder, Benign recurrent intrahepatic cholestasis type 2 |
| RS1559183717 | Health Risk | Pathogenic/Likely pathogenic | Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis |
| RS1574453508 | Health Risk | Pathogenic/Likely pathogenic | Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS1691231110 | Health Risk | Pathogenic/Likely pathogenic | Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS1691232631 | Health Risk | Pathogenic/Likely pathogenic | Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS1692220779 | Health Risk | Pathogenic/Likely pathogenic | Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2 |
| RS1692870573 | Health Risk | Pathogenic/Likely pathogenic | Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2, ABCB11-related disorder |
| RS1693198121 | Health Risk | Pathogenic/Likely pathogenic | Familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2, Familial intrahepatic cholestasis type 2 |
| RS1695418522 | Health Risk | Pathogenic/Likely pathogenic | Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2 |
| RS2105934712 | Health Risk | Pathogenic/Likely pathogenic | Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS2105967839 | Health Risk | Pathogenic/Likely pathogenic | Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2 |
| RS2545364132 | Health Risk | Pathogenic/Likely pathogenic | Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2 |
| RS2545382762 | Health Risk | Pathogenic/Likely pathogenic | Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS2545431676 | Health Risk | Pathogenic/Likely pathogenic | Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2 |
| RS2545442155 | Health Risk | Pathogenic/Likely pathogenic | Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2 |
| RS2545450042 | Health Risk | Pathogenic/Likely pathogenic | Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 2 |
| RS2545450430 | Health Risk | Pathogenic/Likely pathogenic | Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS2545457176 | Health Risk | Pathogenic/Likely pathogenic | Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2 |
| RS369860506 | Health Risk | Pathogenic/Likely pathogenic | Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS375151067 | Health Risk | Pathogenic/Likely pathogenic | Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS387906354 | Health Risk | Pathogenic/Likely pathogenic | Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS555881834 | Health Risk | Pathogenic/Likely pathogenic | Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS72549394 | Health Risk | Pathogenic/Likely pathogenic | Progressive familial intrahepatic cholestasis, Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis |