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 |
|---|---|---|---|
| RS1553543921 | Health Risk | Likely pathogenic | Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2 |
| RS1553545923 | Health Risk | Likely pathogenic | — |
| RS1574445178 | Health Risk | Likely pathogenic | Cholestasis, intrahepatic, of pregnancy |
| RS1574462504 | Health Risk | Likely pathogenic | Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS1691365745 | Health Risk | Likely pathogenic | Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2 |
| RS1691763747 | Health Risk | Likely pathogenic | Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2 |
| RS1693467305 | Health Risk | Likely pathogenic | Progressive familial intrahepatic cholestasis, Progressive familial intrahepatic cholestasis |
| RS1693517014 | Health Risk | Likely pathogenic | Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2 |
| RS1693604030 | Health Risk | Likely pathogenic | — |
| RS1694624512 | Health Risk | Likely pathogenic | ABCB11-related disorder, ABCB11-related disorder |
| RS1695369774 | Health Risk | Likely pathogenic | Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS201296827 | Health Risk | Likely pathogenic | Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS2105888862 | Health Risk | Likely pathogenic | Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2 |
| RS2105891596 | Health Risk | Likely pathogenic | Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS2105935255 | Health Risk | Likely pathogenic | Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS2105947080 | Health Risk | Likely pathogenic | Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS2105984736 | Health Risk | Likely pathogenic | Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2 |
| RS2105996078 | Health Risk | Likely pathogenic | — |
| RS2106004648 | Health Risk | Likely pathogenic | — |
| RS2106055125 | Health Risk | Likely pathogenic | — |
| RS2287616 | Health Risk | Likely pathogenic | Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS2545249795 | Health Risk | Likely pathogenic | Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2 |
| RS2545266793 | Health Risk | Likely pathogenic | Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2 |
| RS2545267203 | Health Risk | Likely pathogenic | Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2 |
| RS2545267498 | Health Risk | Likely pathogenic | Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2 |
| RS2545271850 | Health Risk | Likely pathogenic | Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2 |
| RS2545271927 | Health Risk | Likely pathogenic | Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2 |
| RS2545298994 | Health Risk | Likely pathogenic | — |
| RS2545299615 | Health Risk | Likely pathogenic | Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2 |
| RS2545345371 | Health Risk | Likely pathogenic | Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2 |
| RS2545345449 | Health Risk | Likely pathogenic | Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS2545383308 | Health Risk | Likely pathogenic | Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2 |
| RS2545383503 | Health Risk | Likely pathogenic | Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2 |
| RS2545389014 | Health Risk | Likely pathogenic | Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS2545389249 | Health Risk | Likely pathogenic | Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS2545389626 | Health Risk | Likely pathogenic | Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS2545389884 | Health Risk | Likely pathogenic | — |
| RS2545409225 | Health Risk | Likely pathogenic | Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2 |
| RS2545418182 | Health Risk | Likely pathogenic | — |
| RS2545442611 | Health Risk | Likely pathogenic | Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2 |
| RS2545450572 | Health Risk | Likely pathogenic | Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2 |
| RS2545450648 | Health Risk | Likely pathogenic | Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2 |
| RS2545450715 | Health Risk | Likely pathogenic | Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS2545453964 | Health Risk | Likely pathogenic | Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2 |
| RS2545456977 | Health Risk | Likely pathogenic | Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2 |
| RS2545485145 | Health Risk | Likely pathogenic | Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2 |
| RS2545485315 | Health Risk | Likely pathogenic | — |
| RS2545487369 | Health Risk | Likely pathogenic | Progressive familial intrahepatic cholestasis, Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis |
| RS2545491327 | Health Risk | Likely pathogenic | Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2 |
| RS2545491426 | Health Risk | Likely pathogenic | Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |