C2CD3 Component of the centrioles that acts as a positive regulator of centriole elongation. Promotes assembly of centriolar distal appendage, a structure at the distal end of the mother centriole that acts as an anchor of the cilium, and is required for recruitment of centriolar distal appendages proteins CEP83, SCLT1, CEP89, FBF1 and CEP164. Not required for centriolar satellite integrity or RAB8 activation. Required for primary cilium formation. Required for sonic hedgehog/SHH signaling and for proteolytic processing of GLI3. 5 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.
Chromosomal Location of Human Ortholog: 7|7 E2
Cellular Component:  cell projection; centriolar satellite; centriole; centrosome; ciliary basal body; cilium; cytoplasm; cytoskeleton
Molecular Function:  protein binding
Biological Process:  brain development; cell projection organization; centriole elongation; cilium assembly; embryonic digit morphogenesis; embryonic limb morphogenesis; heart looping; in utero embryonic development; neural plate axis specification; neural tube development; non-motile cilium assembly; pattern specification process; protein localization to centrosome; protein processing; regulation of proteolysis; regulation of smoothened signaling pathway
Reference #:  Q52KB6 (UniProtKB)
Alt. Names/Synonyms: AU020772; C2 calcium-dependent domain containing 3; C2 domain-containing protein 3; C2cd3; Hty; Protein hearty
Gene Symbols: C2cd3
Molecular weight: 255,346 Da
Basal Isoelectric point: 6.49  Predict pI for various phosphorylation states
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Protein Structure Not Found.

Cross-references to other databases:  AlphaFold  |  STRING  |  BioGPS  |  Pfam  |  Phospho.ELM  |  NetworKIN  |  UniProtKB  |  Entrez-Gene  |  Ensembl Gene