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
RS1014304470 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS1033490064 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS1057164807 Health Risk Conflicting classifications of pathogenicity —
RS11568360 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS11568362 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS11568365 Health Risk Conflicting classifications of pathogenicity ABCB11-related disorder, Progressive familial intrahepatic cholestasis type 2, ABCB11-related disorder
RS1171209104 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS1174260635 Health Risk Conflicting classifications of pathogenicity —
RS1227759001 Health Risk Conflicting classifications of pathogenicity —
RS1244153418 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, ABCB11-related disorder, Progressive familial intrahepatic cholestasis type 2
RS1258387740 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS1366346212 Health Risk Conflicting classifications of pathogenicity Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS1382100120 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, ABCB11-related disorder, Progressive familial intrahepatic cholestasis
RS138800291 Health Risk Conflicting classifications of pathogenicity ABCB11-related disorder, ABCB11-related disorder
RS1398103963 Health Risk Conflicting classifications of pathogenicity —
RS140138979 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, ABCB11-related disorder, Progressive familial intrahepatic cholestasis type 2
RS1401834885 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS140587295 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS1413569310 Health Risk Conflicting classifications of pathogenicity Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2, ABCB11-related disorder
RS141862495 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2, ABCB11-related disorder
RS143484849 Health Risk Conflicting classifications of pathogenicity ABCB11-related disorder, ABCB11-related disorder
RS1454008881 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS1463057954 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2, ABCB11-related disorder
RS150572999 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, ABCB11-related disorder, Progressive familial intrahepatic cholestasis type 2
RS1553468235 Health Risk Conflicting classifications of pathogenicity Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS1558897179 Health Risk Conflicting classifications of pathogenicity —
RS1693919240 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS1695251731 Health Risk Conflicting classifications of pathogenicity Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS181533618 Health Risk Conflicting classifications of pathogenicity ABCB11-related disorder, ABCB11-related disorder
RS183214630 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, ABCB11-related disorder, Progressive familial intrahepatic cholestasis type 2
RS183390670 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Inborn genetic diseases, Progressive familial intrahepatic cholestasis type 2
RS183406496 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, ABCB11-related disorder, Progressive familial intrahepatic cholestasis type 2
RS183621659 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, ABCB11-related disorder, Progressive familial intrahepatic cholestasis type 2
RS184334834 Health Risk Conflicting classifications of pathogenicity —
RS188824058 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2, Cholestasis
RS188996270 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, ABCB11-related disorder, Progressive familial intrahepatic cholestasis type 2
RS191042013 Health Risk Conflicting classifications of pathogenicity ABCB11-related disorder, ABCB11-related disorder
RS192375476 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, ABCB11-related disorder, Progressive familial intrahepatic cholestasis type 2
RS199514789 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS199649780 Health Risk Conflicting classifications of pathogenicity Cholestasis, intrahepatic, of pregnancy
RS199671371 Health Risk Conflicting classifications of pathogenicity Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2, ABCB11-related disorder
RS199841445 Health Risk Conflicting classifications of pathogenicity Benign recurrent intrahepatic cholestasis type 2, ABCB11-related disorder, Progressive familial intrahepatic cholestasis type 2
RS199940188 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, ABCB11-related disorder, Progressive familial intrahepatic cholestasis type 2
RS200087122 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Inborn genetic diseases, Progressive familial intrahepatic cholestasis type 2
RS200127070 Health Risk Conflicting classifications of pathogenicity ABCB11-related disorder, ABCB11-related disorder
RS200488448 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2, ABCB11-related disorder
RS200709879 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS200739891 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, ABCB11-related disorder, Progressive familial intrahepatic cholestasis type 2
RS200870815 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS200912109 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, ABCB11-related disorder, Progressive familial intrahepatic cholestasis type 2
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