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Gene : DNAAF2 Homo sapiens

Name  ? dynein axonemal assembly factor 2 Cytological Location  14q21.3
Brief Description  dynein axonemal assembly factor 2
Description  This gene encodes a highly conserved protein involved in the preassembly of dynein arm complexes which power cilia. These complexes are found in some cilia and are assembled in the cytoplasm prior to transport for cilia formation. Mutations in this gene have been associated with primary ciliary dyskinesia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
  • synonyms:
  • OTTHUMG00000152331,
  • KTU,
  • KTU,
  • PF13,
  • PF13,
  • AK001425,
  • chromosome 14 open reading frame 104,
  • C14orf104,
  • dynein, axonemal, assembly factor 2,
  • C14orf104,
  • DNAAF2,
  • CILD10,
  • FLJ10563,
  • CILD10,
  • dynein (axonemal) assembly factor 2,
  • uc001wws.4,
  • HGNC:20188,
  • kintoun,
  • NM_001083908
  • identifiers:
  • 55172,
  • ENSG00000165506,
  • DNAAF2

Genome feature

Region: gene ? Length: 10071  
Location: 14:49625174-49635244 reverse strand Cyto location: 14q21.3


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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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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]

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Expression

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

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Other

0 Pathways

566 SN Ps

5 Cross References

19 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results