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Gene : ABCA5 Homo sapiens

Name  ? ATP binding cassette subfamily A member 5 Cytological Location  17q24.3
Brief Description  ATP binding cassette subfamily A member 5
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, and White). This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24, but neither the substrate nor the function of this gene is known. Alternative splicing of this gene results in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]
  • synonyms:
  • EST90625,
  • U66672,
  • HGNC:35,
  • OTTHUMG00000180303,
  • uc002jig.3,
  • EST90625,
  • ATP-binding cassette, sub-family A (ABC1), member 5,
  • HTC3,
  • ABC13,
  • ABCA5,
  • NM_018672
  • identifiers:
  • 23461,
  • ENSG00000154265,
  • ABCA5

Genome feature

Region: gene ? Length: 82823  
Location: 17:69244311-69327133 reverse strand Cyto location: 17q24.3


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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.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

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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Gene --> Physical and Genetic Interactions

Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

3756 SN Ps

5 Cross References

20 Data Sets

15 Homologues

0 Located Features

97 Rna Seq Results