Correlation Engine 2.0
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Gene Symbol:
CC2D2A Homo sapiens Homo sapiens
Full name:
coiled-coil and C2 domain containing 2A
Synonyms:
JBTS9, MKS6, coiled-coil and C2 domain-containing protein 2A
Genomic Location:
Chr 4: 15080760-15212278
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.
Orthologs:
Mus musculus Rattus norvegicus D. melanogaster C. elegans Macaca mulatta Gallus gallus Pan troglodytes Canis lupus familiaris Bos taurus Danio rerio
External Links:
Entrez Gene
Cytogenetic Map:
chr 4
4p15.32





GO Molecular Function

No molecular functions found.

GO Biological Process

axoneme assembly | morphogenesis of an epithelium | microtubule bundle formation | embryonic brain development | eye development | microtubule cytoskeleton organization | nervous system development | microtubule-based process | pattern specification process | cellular process | localization | epithelial tube morphogenesis | determination of left/right symmetry | macromolecule localization | membrane docking | tissue development | regulation of cellular process | organelle localization | epithelium development | cellular component organization | response to stimulus | embryonic epithelial tube formation | tube morphogenesis | epithelial tube formation | cellular localization | cellular component assembly | embryo development | ciliary basal body-plasma membrane docking | organelle assembly | system development | multicellular organism development | determination of bilateral symmetry | neural tube closure | cell projection assembly | neural tube formation | protein localization to organelle | neural tube development | protein localization to ciliary transition zone | sensory organ development | chordate embryonic development | cell communication | heart development | embryo development ending in birth or egg hatching | embryonic morphogenesis | tissue morphogenesis | anatomical structure development | cell surface receptor signaling pathway | cell projection organization | embryonic organ development | cellular protein localization | morphogenesis of embryonic epithelium | animal organ development | cilium assembly | cytoskeleton organization | camera-type eye development | smoothened signaling pathway | anatomical structure formation involved in morphogenesis | cilium organization | signaling | protein localization to cilium | protein localization | anatomical structure morphogenesis | cellular macromolecule localization | developmental process | organelle organization | tube development | tube closure | tube formation | motile cilium assembly | circulatory system development | non-motile cilium assembly | signal transduction | multicellular organismal process

GO Cellular Component

ciliary transition zone | cell | cytoplasm | intracellular organelle | protein-containing complex | cell projection | cilium | MKS complex | organelle | cytosol | cytoskeleton | intracellular