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Gene : CCDC65 Homo sapiens

Name  ? coiled-coil domain containing 65 Cytological Location  12q13.12
Brief Description  coiled-coil domain containing 65
Description  This gene encodes a sperm tail protein that is highly expressed in adult testis, spermatocytes and spermatids. The protein plays a critical role in the assembly of the nexin-dynein regulatory complex. Mutations in this gene result in primary ciliary dyskinesia. [provided by RefSeq, Nov 2013]
  • synonyms:
  • FAP250,
  • FLJ35732,
  • DRC2,
  • CILD27,
  • CFAP250,
  • NM_033124,
  • FAP250,
  • uc001rso.4,
  • OTTHUMG00000170401,
  • NYD-SP28,
  • CFAP250,
  • CCDC65,
  • HGNC:29937,
  • DRC2,
  • NYD-SP28
  • identifiers:
  • 85478,
  • ENSG00000139537,
  • CCDC65

Genome feature

Region: gene ? Length: 17444  
Location: 12:48904133-48921576 Cyto location: 12q13.12


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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

17 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results