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Gene : ABCB4 Homo sapiens

Name  ? ATP binding cassette subfamily B member 4 Cytological Location  7q21.12
Brief Description  ATP binding cassette subfamily B member 4
Description  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 as well as antigen presentation. This gene encodes a full transporter and member of the p-glycoprotein family of membrane proteins with phosphatidylcholine as its substrate. The function of this protein has not yet been determined; however, it may involve transport of phospholipids from liver hepatocytes into bile. Alternative splicing of this gene results in several products of undetermined function. [provided by RefSeq, Jul 2008]
  • synonyms:
  • NM_000443,
  • MDR2,
  • PGY3,
  • HGNC:45,
  • PFIC-3,
  • GBD1,
  • uc003uix.1,
  • OTTHUMG00000023396,
  • MDR2/3,
  • ABC21,
  • MDR3,
  • PGY3,
  • ICP3,
  • MDR3,
  • GBD1,
  • ATP-binding cassette, sub-family B (MDR/TAP), member 4,
  • ABCB4,
  • M23234,
  • PFIC-3,
  • MDR2
  • identifiers:
  • 5244,
  • ENSG00000005471,
  • ABCB4

Genome feature

Region: gene ? Length: 77735  
Location: 7:87398988-87476722 reverse strand Cyto location: 7q21.12


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

3 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

3753 SN Ps

5 Cross References

20 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results