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Gene : DNAAF5 Homo sapiens

Name  ? dynein axonemal assembly factor 5 Cytological Location  7p22.3
Brief Description  dynein axonemal assembly factor 5
description  The protein encoded by this gene is essential for the preassembly or stability of axonemal dynein arms, and is found only in organisms with motile cilia and flagella. Mutations in this gene are associated with primary ciliary dyskinesia-18, a disorder characterized by abnormalities of motile cilia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2013]
  • synonyms:
  • dynein, axonemal, assembly factor 5,
  • FLJ20397,
  • AL832914,
  • FLJ25564,
  • HEATR2,
  • HEATR2,
  • dynein (axonemal) assembly factor 5,
  • CILD18,
  • HEAT repeat containing 2,
  • HGNC:26013,
  • CILD18,
  • NM_017802,
  • AK000404,
  • OTTHUMG00000151416,
  • DNAAF5,
  • FLJ39381,
  • AK056233,
  • FLJ31671
  • identifiers:
  • 54919,
  • ENSG00000164818,
  • DNAAF5

Genome feature

Region: gene ? Length: 59788  
Location: 7:726692-786479 Cyto location: 7p22.3


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0 Pathways

Gene --> GO terms.

Mouse Gene --> Allele [Phenotype]

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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)

Mouse Gene --> Allele [Phenotype]

Homology

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Expression

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

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Gene --> GO terms.

 

Other

0 Pathways

2011 SN Ps

5 Cross References

18 Data Sets

3 Homologues

0 Located Features

90 Rna Seq Results