The centromere is a specialized chromatin domain, present throughout the cell cycle, that acts as a platform on which the transient assembly of the kinetochore occurs during mitosis. All active centromeres are characterized by the presence of long arrays
Gene ontology (GO)Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
Centromere protein T (CENP-T) (Interphase centromere complex protein 22)
Protein function
Component of the CENPA-NAC (nucleosome-associated) complex, a complex that plays a central role in assembly of kinetochore proteins, mitotic progression and chromosome segregation. The CENPA-NAC complex recruits the CENPA-CAD (nucleosome distal)
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
Phenotype Name
Clinical Significance
dbSNP ID
RCV Accession
Evidence Score
Short stature and microcephaly with genital anomalies
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.
["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"]
0
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Diseases Linked via Similar GenesDiseases curated for genes most similar to CENPT (see Related Genes above), that are NOT already directly curated for CENPT itself -- a lead worth checking, not a confirmed association.