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Gene : CCDC40 Homo sapiens

Name  ? coiled-coil domain containing 40 Cytological Location  17q25.3
Brief Description  coiled-coil domain containing 40
Description  This gene encodes a protein that is necessary for motile cilia function. It functions in correct left-right axis formation by regulating the assembly of the inner dynein arm and the dynein regulatory complexes, which control ciliary beat. Mutations in this gene cause ciliary dyskinesia type 15, a disorder due to defects in cilia motility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
  • synonyms:
  • FAP172,
  • CFAP172,
  • CILD15,
  • uc010dht.4,
  • FLJ32021,
  • NM_001243342,
  • CFAP172,
  • AB046860,
  • FAP172,
  • OTTHUMG00000132707,
  • CILD15,
  • CCDC40,
  • HGNC:26090,
  • FLJ20753,
  • KIAA1640
  • identifiers:
  • 55036,
  • ENSG00000141519,
  • CCDC40

Genome feature

Region: gene ? Length: 63982  
Location: 17:80036632-80100613 Cyto location: 17q25.3


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Function

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0 Pathways

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

0 Pathways

3753 SN Ps

5 Cross References

19 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results