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ABCB11

Chr 2q31.1

ATP binding cassette subfamily B member 11

Aliases:
ABC16, SPGP, PFIC-2, PGY4
MANE:
ENST00000650372.1
OMIM: 603201 ↗NCBI: 8647 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Cholestasis

    BIALLELIC, autosomal or pseudoautosomal

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal

  • Likely inborn error of metabolism

    BIALLELIC, autosomal or pseudoautosomal

  • Neonatal cholestasis

    BIALLELIC, autosomal or pseudoautosomal

  • Undiagnosed metabolic disorders

    BIALLELIC, autosomal or pseudoautosomal

  • Childhood onset dystonia, chorea or related movement disorder

  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal

  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • progressive familial intrahepatic cholestasis type 2

    0.84

  • benign recurrent intrahepatic cholestasis type 2

    0.81

  • progressive familial intrahepatic cholestasis

    0.70

  • benign recurrent intrahepatic cholestasis

    0.63

  • intrahepatic cholestasis

    0.61

  • Intrahepatic cholestasis of pregnancy

    0.61

  • cholestasis, intrahepatic, of pregnancy 3

    0.58

  • familial intrahepatic cholestasis

    0.56

  • progressive familial intrahepatic cholestasis type 1

    0.52

  • hereditary disease

    0.42

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Bile salt export pump

Catalyzes the transport of the major hydrophobic bile salts, such as taurine and glycine-conjugated cholic acid across the canalicular membrane of hepatocytes in an ATP-dependent manner, therefore participates in hepatic bile acid homeostasis and consequently to lipid homeostasis through regulation of biliary lipid secretion in a bile salts dependent manner (PubMed:15791618, PubMed:16332456, PubMed:18985798, PubMed:19228692, PubMed:20010382, PubMed:20398791, PubMed:22262466, PubMed:24711118, PubMed:29507376, PubMed:32203132). Transports taurine-conjugated bile salts more rapidly than glycine-conjugated bile salts (PubMed:16332456). Also transports non-bile acid compounds, such as pravastatin and fexofenadine in an ATP-dependent manner and may be involved in their biliary excretion (PubMed:15901796, PubMed:18245269)

Diseases associated with ABCB11

Curated MONDO disease pages that list ABCB11 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.