This gene encodes a centrosomal protein which regulates centriole amplification by limiting centriole duplication to once per cell cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
miRNAmiRNA information provided by mirtarbase database.
Gene ontology (GO)Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
Centrosomal protein involved in regulation of centriole duplication. Required to limit centriole duplication to once per cell cycle by preventing centriole reduplication.
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)
CausalDiseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
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.
Phenotype Name
Clinical Significance
Source
Reference
Evidence Score
CEP76-related disorder
Benign; Likely benign
ClinVar
—
★★★★★
★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through text mining
["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"]
["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
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Diseases Linked via Similar GenesDiseases curated for genes most similar to CEP76 (see Related Genes above), that are NOT already directly curated for CEP76 itself -- a lead worth checking, not a confirmed association.