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 |
|---|---|---|---|
| RS2105912800 | Health Risk | Pathogenic | — |
| RS2105967878 | Health Risk | Pathogenic | — |
| RS2105967973 | Health Risk | Pathogenic | Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS2106004684 | Health Risk | Pathogenic | — |
| RS2106004956 | Health Risk | Pathogenic | — |
| RS2106005174 | Health Risk | Pathogenic | — |
| RS2106010917 | Health Risk | Pathogenic | — |
| RS2106013953 | Health Risk | Pathogenic | — |
| RS2106047848 | Health Risk | Pathogenic | — |
| RS2545223678 | Health Risk | Pathogenic | — |
| RS2545223749 | Health Risk | Pathogenic | — |
| RS2545224702 | Health Risk | Pathogenic | — |
| RS2545228941 | Health Risk | Pathogenic | Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS2545236621 | Health Risk | Pathogenic | Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2 |
| RS2545237313 | Health Risk | Pathogenic | Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS2545249298 | Health Risk | Pathogenic | — |
| RS2545249385 | Health Risk | Pathogenic | ABCB11-related disorder, ABCB11-related disorder |
| RS2545256087 | Health Risk | Pathogenic | Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS2545266580 | Health Risk | Pathogenic | — |
| RS2545270997 | Health Risk | Pathogenic | — |
| RS2545272260 | Health Risk | Pathogenic | Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS2545272431 | Health Risk | Pathogenic | — |
| RS2545300407 | Health Risk | Pathogenic | — |
| RS2545376269 | Health Risk | Pathogenic | Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS2545376376 | Health Risk | Pathogenic | — |
| RS2545376707 | Health Risk | Pathogenic | — |
| RS2545379327 | Health Risk | Pathogenic | — |
| RS2545383010 | Health Risk | Pathogenic | Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS2545383032 | Health Risk | Pathogenic | — |
| RS2545383346 | Health Risk | Pathogenic | — |
| RS2545383573 | Health Risk | Pathogenic | — |
| RS2545389271 | Health Risk | Pathogenic | — |
| RS2545431362 | Health Risk | Pathogenic | Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2 |
| RS2545432219 | Health Risk | Pathogenic | — |
| RS2545432299 | Health Risk | Pathogenic | — |
| RS2545432325 | Health Risk | Pathogenic | Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS2545453686 | Health Risk | Pathogenic | Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2 |
| RS2545484647 | Health Risk | Pathogenic | — |
| RS2545484771 | Health Risk | Pathogenic | Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS2545485020 | Health Risk | Pathogenic | — |
| RS2545485149 | Health Risk | Pathogenic | — |
| RS2545487249 | Health Risk | Pathogenic | Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS2545493995 | Health Risk | Pathogenic | — |
| RS2545494283 | Health Risk | Pathogenic | Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS375137002 | Health Risk | Pathogenic | — |
| RS387907317 | Health Risk | Pathogenic | Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS72549397 | Health Risk | Pathogenic | Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS72549398 | Health Risk | Pathogenic | Abnormal liver function tests during pregnancy, Pruritus, Intrahepatic cholestasis |
| RS72549399 | Health Risk | Pathogenic | Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2 |
| RS72549401 | Health Risk | Pathogenic | Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2, ABCB11-related disorder |