ABCB11 Chromosome 2

ATP binding cassette subfamily B member 11
366 variants 366 Health Risk

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
RS750991541 Health Risk Conflicting classifications of pathogenicity ABCB11-related disorder, ABCB11-related disorder
RS752974260 Health Risk Conflicting classifications of pathogenicity —
RS753994013 Health Risk Conflicting classifications of pathogenicity Benign recurrent intrahepatic cholestasis type 2, ABCB11-related disorder, Progressive familial intrahepatic cholestasis type 1
RS756220860 Health Risk Conflicting classifications of pathogenicity Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS756725213 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Inborn genetic diseases, Progressive familial intrahepatic cholestasis type 2
RS756738723 Health Risk Conflicting classifications of pathogenicity —
RS757040670 Health Risk Conflicting classifications of pathogenicity ABCB11-related disorder, ABCB11-related disorder
RS758339239 Health Risk Conflicting classifications of pathogenicity ABCB11-related disorder, Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS760920706 Health Risk Conflicting classifications of pathogenicity —
RS760948323 Health Risk Conflicting classifications of pathogenicity —
RS761200259 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS762147612 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS762571776 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS762729346 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS762791891 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS762824612 Health Risk Conflicting classifications of pathogenicity —
RS763526610 Health Risk Conflicting classifications of pathogenicity Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis
RS764220674 Health Risk Conflicting classifications of pathogenicity ABCB11-related disorder, Inborn genetic diseases, ABCB11-related disorder
RS765070028 Health Risk Conflicting classifications of pathogenicity —
RS768192083 Health Risk Conflicting classifications of pathogenicity ABCB11-related disorder, ABCB11-related disorder
RS768511849 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS769652427 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis, Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS769782500 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS770497192 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS771468316 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS772241929 Health Risk Conflicting classifications of pathogenicity Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS772714766 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS773371540 Health Risk Conflicting classifications of pathogenicity —
RS774845820 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS775663263 Health Risk Conflicting classifications of pathogenicity ABCB11-related disorder, ABCB11-related disorder
RS776223452 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS779096015 Health Risk Conflicting classifications of pathogenicity ABCB11-related disorder, ABCB11-related disorder
RS781492309 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS867525294 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis, Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS886043366 Health Risk Conflicting classifications of pathogenicity Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS886043807 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS886044603 Health Risk Conflicting classifications of pathogenicity —
RS886055065 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS917981474 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis, Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS944713270 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1064797269 Health Risk Likely pathogenic —
RS1163486377 Health Risk Likely pathogenic Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS1186246637 Health Risk Likely pathogenic Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS121908935 Health Risk Likely pathogenic Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS1243952083 Health Risk Likely pathogenic —
RS1247734675 Health Risk Likely pathogenic Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS1252769722 Health Risk Likely pathogenic Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS1326800279 Health Risk Likely pathogenic Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS1356859208 Health Risk Likely pathogenic Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS145720664 Health Risk Likely pathogenic Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
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