Gene Gene information from NCBI Gene database.
Entrez ID 80152
Gene name Centromere protein T
Gene symbol CENPT
Synonyms (NCBI Gene)
C16orf56CENP-TSSMGA
Chromosome 16
Chromosome location 16q22.1
Summary 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
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs1364608764 C>A,T Pathogenic Splice donor variant
miRNA miRNA information provided by mirtarbase database.
78
miRTarBase ID miRNA Experiments Reference
MIRT046930 hsa-miR-221-3p CLASH 23622248
MIRT885429 hsa-miR-2355-5p CLIP-seq
MIRT885430 hsa-miR-299-3p CLIP-seq
MIRT885431 hsa-miR-3117-5p CLIP-seq
MIRT885432 hsa-miR-3144-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
GO ID Ontology Definition Evidence Reference
GO:0000278 Process Mitotic cell cycle IBA
GO:0000278 Process Mitotic cell cycle IMP 21695110
GO:0000775 Component Chromosome, centromeric region IDA 21695110
GO:0000775 Component Chromosome, centromeric region IEA
GO:0000776 Component Kinetochore IDA 21529714
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611510 25787 ENSG00000102901
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96BT3
Protein name 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)
PDB 7QOO , 7R5S , 7XHN , 7XHO , 7YWX
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16171 CENP-T_N 1 415 Centromere kinetochore component CENP-T N-terminus Family
PF15511 CENP-T_C 450 553 Centromere kinetochore component CENP-T histone fold Domain
Sequence
Sequence length 561
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
27
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Short stature and microcephaly with genital anomalies Pathogenic rs1364608764 RCV000984535
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CENPT-related disorder Benign; Likely benign rs11558534, rs376460419, rs189805146, rs113181211, rs2057689517, rs56045040, rs201434551, rs187620725, rs186354372, rs375024438, rs11558533, rs747138104, rs114895738, rs138604758, rs188159138
View all (3 more)
RCV003980720
RCV003954147
RCV003909405
RCV003923812
RCV003893935
RCV003933819
RCV003933830
RCV003961668
RCV003961824
RCV003964074
RCV003917164
RCV003939578
RCV003934480
RCV003934501
RCV003936992
RCV003952244
RCV003962051
RCV003923048
Gastric cancer Benign rs114895738 RCV005933250
Lung cancer Benign rs114895738 RCV005933252
Malignant tumor of esophagus Benign rs114895738 RCV005933248
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Scleroderma Systemic Associate 23418382