Entity Details

Primary name CENPT
Entity type gene
Source Source Link

Details

PrimaryID80152
RefseqGene
SymbolCENPT
Namecentromere protein T
Chromosome16
Location16q22.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-03-12
ModificationDate2021-06-22

Ontological Relatives

UniProt IDsCENPT_HUMAN

GO terms

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GOName
GO:0000278 mitotic cell cycle
GO:0000775 chromosome, centromeric region
GO:0000776 kinetochore
GO:0003677 DNA binding
GO:0005654 nucleoplasm
GO:0005829 cytosol
GO:0007052 mitotic spindle organization
GO:0007059 chromosome segregation
GO:0016604 nuclear body
GO:0034080 CENP-A containing nucleosome assembly
GO:0046982 protein heterodimerization activity
GO:0051276 chromosome organization
GO:0051301 cell division
GO:0051382 kinetochore assembly
GO:1903394 protein localization to kinetochore involved in kinetochore assembly

Diseases

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Disease IDSourceNameDescription
618702 OMIMShort stature and microcephaly with genital anomalies (SSMGA)An autosomal recessive disease characterized by growth failure resulting in severe short stature, severe microcephaly, and delayed and dissociated bone age. Additional features include global psychomotor developmental delay, pubertal delay and genital anomalies. The disease may be caused by variants affecting the gene represented in this entry.