Gene ontology (GO)Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
Centriolar coiled-coil protein of 110 kDa (Centrosomal protein of 110 kDa) (CP110) (Cep110)
Protein function
Necessary for centrosome duplication at different stages of procentriole formation. Acts as a key negative regulator of ciliogenesis in collaboration with CEP97 by capping the mother centriole thereby preventing cilia formation (PubMed:17681131,
TISSUE SPECIFICITY: Highly expressed in testis. Detected at intermediate levels in spleen, thymus, prostate, small intestine, colon and peripheral blood leukocytes. {ECO:0000269|PubMed:12361598}.
Evidence Score:★☆☆☆☆ Gene-disease association found in Text Mining only★★☆☆☆ Found in Text Mining and Unknown/Other Associations★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations
ClinVar entries with uncertain/conflicting evidence, and associations from other databases
(OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
["Regulation of PLK1 Activity at G2\/M Transition","Loss of Nlp from mitotic centrosomes","Recruitment of mitotic centrosome proteins and complexes","Loss of proteins required for interphase microtubule organization from the centrosome","Recruitment of NuMA to mitotic centrosomes","Anchoring of the basal body to the plasma membrane","AURKA Activation by TPX2"]
["Regulation of PLK1 Activity at G2\/M Transition","Loss of Nlp from mitotic centrosomes","Recruitment of mitotic centrosome proteins and complexes","Loss of proteins required for interphase microtubule organization from the centrosome","Recruitment of NuMA to mitotic centrosomes","Anchoring of the basal body to the plasma membrane","AURKA Activation by TPX2"]
["Regulation of PLK1 Activity at G2\/M Transition","Loss of Nlp from mitotic centrosomes","Recruitment of mitotic centrosome proteins and complexes","Loss of proteins required for interphase microtubule organization from the centrosome","Recruitment of NuMA to mitotic centrosomes","Anchoring of the basal body to the plasma membrane","AURKA Activation by TPX2"]
["Regulation of PLK1 Activity at G2\/M Transition","Loss of Nlp from mitotic centrosomes","Recruitment of mitotic centrosome proteins and complexes","Loss of proteins required for interphase microtubule organization from the centrosome","Recruitment of NuMA to mitotic centrosomes","Anchoring of the basal body to the plasma membrane","AURKA Activation by TPX2"]
0
[]
Diseases Linked via Similar GenesDiseases curated for genes most similar to CCP110 (see Related Genes above), that are NOT already directly curated for CCP110 itself -- a lead worth checking, not a confirmed association.