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A single case of pancreatic cancer showed strong cytoplasmic staining. Rare cases of gliomas, melanomas, colorectal, breast, prostate and ovarian cancers displayed moderate cytoplasmic or nuclear staining. Remaining cancer tissues were negative.
GENE INFORMATION
Gene name
CC2D2A (HGNC Symbol)
Synonyms
JBTS9, KIAA1345, MKS6
Description
Coiled-coil and C2 domain containing 2A (HGNC Symbol)
Entrez gene summary
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]
Q9P2K1 [Direct mapping] Coiled-coil and C2 domain-containing protein 2A
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SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)