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Gene : ABCA3 Homo sapiens

Name  ? ATP binding cassette subfamily A member 3 Cytological Location  16p13.3
Brief Description  ATP binding cassette subfamily A member 3
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 intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. The full transporter encoded by this gene may be involved in development of resistance to xenobiotics and engulfment during programmed cell death. [provided by RefSeq, Jul 2008]
  • synonyms:
  • SMDP3,
  • ABC-C,
  • ABC3,
  • LBM180,
  • ABC3,
  • EST111653,
  • LBM180,
  • EST111653,
  • U78735,
  • HGNC:33,
  • ABCA3,
  • ATP-binding cassette, sub-family A (ABC1), member 3,
  • NM_001089,
  • uc002cpy.2,
  • ABC-C,
  • OTTHUMG00000128845
  • identifiers:
  • 21,
  • ENSG00000167972,
  • ABCA3

Genome feature

Region: gene ? Length: 64848  
Location: 16:2275881-2340728 reverse strand Cyto location: 16p13.3


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

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SNPs

Gene Report --> GWAS hit

Disease

1 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

483 SN Ps

5 Cross References

20 Data Sets

27 Homologues

0 Located Features

97 Rna Seq Results