CENPL is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic progression (Okada et al., 2006) [PubMed 16622420].[sup
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.
Centromere protein L (CENP-L) (Interphase centromere complex protein 33)
Protein function
Component of the CENPA-CAD (nucleosome distal) complex, a complex recruited to centromeres which is involved in assembly of kinetochore proteins, mitotic progression and chromosome segregation. May be involved in incorporation of newly synthesiz
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.
Phenotype Name
Clinical Significance
Source
Reference
Evidence Score
Adrenocortical carcinoma, hereditary
Uncertain significance
ClinVar
—
★★★★★
★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder
Uncertain significance
ClinVar
—
★★★★★
★★☆☆☆ Found in Text Mining + Unknown/Other Associations
["Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal","Separation of Sister Chromatids","Resolution of Sister Chromatid Cohesion","RHO GTPases Activate Formins","Deposition of new CENPA-containing nucleosomes at the centromere","Mitotic Prometaphase","EML4 and NUDC in mitotic spindle formation"]
["Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal","Separation of Sister Chromatids","Resolution of Sister Chromatid Cohesion","RHO GTPases Activate Formins","Deposition of new CENPA-containing nucleosomes at the centromere","Mitotic Prometaphase","EML4 and NUDC in mitotic spindle formation"]
["Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal","Separation of Sister Chromatids","Resolution of Sister Chromatid Cohesion","RHO GTPases Activate Formins","Deposition of new CENPA-containing nucleosomes at the centromere","Mitotic Prometaphase","EML4 and NUDC in mitotic spindle formation"]
["Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal","Separation of Sister Chromatids","Resolution of Sister Chromatid Cohesion","RHO GTPases Activate Formins","Deposition of new CENPA-containing nucleosomes at the centromere","Mitotic Prometaphase","EML4 and NUDC in mitotic spindle formation"]
["Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal","Separation of Sister Chromatids","Resolution of Sister Chromatid Cohesion","RHO GTPases Activate Formins","Deposition of new CENPA-containing nucleosomes at the centromere","Mitotic Prometaphase","EML4 and NUDC in mitotic spindle formation"]
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Diseases Linked via Similar GenesDiseases curated for genes most similar to CENPL (see Related Genes above), that are NOT already directly curated for CENPL itself -- a lead worth checking, not a confirmed association.