ABCB11

GENE INFORMATION

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Gene name

ABCB11 (HGNC Symbol)

Synonyms

ABC16, BSEP, PFIC-2, PFIC2, PGY4, SPGP

Description

ATP-binding cassette, sub-family B (MDR/TAP), member 11 (HGNC Symbol)

Entrez gene summary

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]

Chromosome

2 (Chromosome progress)

Cytoband

q31.1

Chromosome location (bp)

169779448 - 169887832

Ensembl

ENSG00000073734 (version 73.37)

Entrez gene

8647

UniProt

O95342 (UniProt - Evidence at protein level)

neXtProt

NX_O95342

Antibodypedia

ABCB11 antibodies
 

PROTEIN VIEW

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ABCB11-001
 
ABCB11-003
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ABCB11-001 ENSP00000263817
ENST00000263817
O95342
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Show » Show » 1321 146.4 No >9
ABCB11-003 ENSP00000416058
ENST00000439188
H7C486
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72 8.5 No 0