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 |
|---|---|---|---|
| RS373201488 | Health Risk | Likely pathogenic | Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS376632574 | Health Risk | Likely pathogenic | Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2 |
| RS72551306 | Health Risk | Likely pathogenic | Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2 |
| RS747888517 | Health Risk | Likely pathogenic | Progressive familial intrahepatic cholestasis type 2, ABCB11-related disorder, Progressive familial intrahepatic cholestasis type 2 |
| RS764296800 | Health Risk | Likely pathogenic | Cholestasis, intrahepatic, of pregnancy |
| RS765860589 | Health Risk | Likely pathogenic | Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS766285158 | Health Risk | Likely pathogenic | Familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2 |
| RS766286901 | Health Risk | Likely pathogenic | Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS766402285 | Health Risk | Likely pathogenic | Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2 |
| RS770693935 | Health Risk | Likely pathogenic | Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS774411820 | Health Risk | Likely pathogenic | Progressive familial intrahepatic cholestasis type 2, ABCB11-related disorder, Benign recurrent intrahepatic cholestasis type 2 |
| RS781013887 | Health Risk | Likely pathogenic | — |
| RS934030293 | Health Risk | Likely pathogenic | — |
| RS1026511416 | Health Risk | Pathogenic | Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS1060499579 | Health Risk | Pathogenic | Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2, ABCB11-related disorder |
| RS1064797270 | Health Risk | Pathogenic | Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2 |
| RS11568361 | Health Risk | Pathogenic | Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS11568372 | Health Risk | Pathogenic | Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis, Benign recurrent intrahepatic cholestasis type 2 |
| RS1162933116 | Health Risk | Pathogenic | Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS1171005948 | Health Risk | Pathogenic | Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2 |
| RS1274558905 | Health Risk | Pathogenic | — |
| RS1355492492 | Health Risk | Pathogenic | — |
| RS1421685722 | Health Risk | Pathogenic | Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS1459273753 | Health Risk | Pathogenic | Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2, ABCB11-related disorder |
| RS1470131264 | Health Risk | Pathogenic | Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2 |
| RS1553466489 | Health Risk | Pathogenic | — |
| RS1553469602 | Health Risk | Pathogenic | Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS1553546495 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1558894166 | Health Risk | Pathogenic | — |
| RS1558898789 | Health Risk | Pathogenic | Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS1558912774 | Health Risk | Pathogenic | — |
| RS1558927163 | Health Risk | Pathogenic | Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS1559183490 | Health Risk | Pathogenic | — |
| RS1559184972 | Health Risk | Pathogenic | — |
| RS1574415650 | Health Risk | Pathogenic | — |
| RS1574415738 | Health Risk | Pathogenic | — |
| RS1574453486 | Health Risk | Pathogenic | — |
| RS1691171678 | Health Risk | Pathogenic | Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS1691536136 | Health Risk | Pathogenic | — |
| RS1692230196 | Health Risk | Pathogenic | — |
| RS1693477912 | Health Risk | Pathogenic | — |
| RS1693519718 | Health Risk | Pathogenic | — |
| RS200148505 | Health Risk | Pathogenic | Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS2105876276 | Health Risk | Pathogenic | — |
| RS2105888351 | Health Risk | Pathogenic | — |
| RS2105888359 | Health Risk | Pathogenic | Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS2105891349 | Health Risk | Pathogenic | Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS2105899026 | Health Risk | Pathogenic | — |
| RS2105912281 | Health Risk | Pathogenic | — |
| RS2105912644 | Health Risk | Pathogenic | Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |