ABCB11 wt Allele

Preferred Label : ABCB11 wt Allele;

NCIt synonyms : ATP-Binding Cassette, Subfamily B, Member 11 Gene; PGY4; PFIC-2; BSEP; SPGP; Sister of P-Glycoprotein Gene; BRIC2; ATP Binding Cassette Subfamily B Member 11 wt Allele; ATP-Binding Cassette, Sub-Family B (MDR/TAP), Member 11 Gene; Progressive Familial Intrahepatic Cholestasis 2 Gene; PFIC2; ABC Member 16, MDR/TAP Subfamily Gene; ABC16;

NCIt definition : Human ABCB11 wild-type allele is located in the vicinity of 2q24 and is approximately 108 kb in length. This allele, which encodes bile salt export pump protein, is involved in bile salt transport. Mutation of the gene is associated with hereditary intrahepatic cholestasis.;

NCIt note : Ensembl states that this gene is located in the vicinity of 2q31.1.;

GenBank Accession Number : AF091582;

Details

Origin ID

C123860;

UMLS CUI

C4084714;

Automatic exact mappings (from CISMeF team)
- ATP Binding Cassette Transporter, Subfamily B, Member 11 [MeSH Descriptor]
- ATP binding cassette subfamily B member 11 [ORDO Gene]
- Atp-binding cassette, subfamily b, member 11 [OMIM gene]
- Benign recurrent intrahepatic cholestasis type 2 [ORDO Disease]
- Cholestasis, benign recurrent intrahepatic, 2 [OMIM Phenotype]
- Cholestasis, progressive familial intrahepatic, 2 [OMIM Phenotype]
- Progressive familial intrahepatic cholestasis type 2 [ORDO Disease]
- benign recurrent intrahepatic cholestasis 2 [DO Concept]
- progressive familial intrahepatic cholestasis 2 [DO Concept]
OMIM relation
- Atp-binding cassette, subfamily b, member 11 [OMIM gene]
See also inter- (CISMeF)
- Progressive familial intrahepatic cholestasis type 2 [ICD-11 More detail]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- ABC Transporter Pathway [NCIt concept]
- Multi-Drug Resistance Factor Pathway [NCIt concept]
gene_plays_role_in_process
- ATP Hydrolysis [NCIt concept]
- Ion Transport Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Nucleotide Metabolic Process [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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