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Gene : CC2D2A Homo sapiens

Name  ? coiled-coil and C2 domain containing 2A Cytological Location  4p15.32
Brief Description  coiled-coil and C2 domain containing 2A
Description  This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation. Mutations in this gene cause Meckel syndrome type 6, as well as Joubert syndrome type 9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
  • synonyms:
  • AB037766,
  • Meckel syndrome, type 6,
  • OTTHUMG00000160255,
  • uc062vgy.1,
  • MKS6,
  • KIAA1345,
  • CC2D2A,
  • NM_001080522,
  • EU450799,
  • JBTS9,
  • MKS6,
  • JBTS9,
  • HGNC:29253
  • identifiers:
  • 57545,
  • ENSG00000048342,
  • CC2D2A

Genome feature

Region: gene ? Length: 132898  
Location: 4:15468660-15601557 Cyto location: 4p15.32


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

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Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

3 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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Expression

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Other

912 SN Ps

5 Cross References

18 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results