Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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

Show/Hide all (1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1364608764	C>A,T	Pathogenic	Splice donor variant

Show/Hide all (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
MIRT885433	hsa-miR-3150a-3p	CLIP-seq
MIRT885434	hsa-miR-3150b-3p	CLIP-seq
MIRT885435	hsa-miR-3175	CLIP-seq
MIRT885436	hsa-miR-3191	CLIP-seq
MIRT885437	hsa-miR-3661	CLIP-seq
MIRT885438	hsa-miR-4254	CLIP-seq
MIRT885439	hsa-miR-4434	CLIP-seq
MIRT885440	hsa-miR-4491	CLIP-seq
MIRT885441	hsa-miR-4516	CLIP-seq
MIRT885442	hsa-miR-4531	CLIP-seq
MIRT885443	hsa-miR-4651	CLIP-seq
MIRT885444	hsa-miR-4652-5p	CLIP-seq
MIRT885445	hsa-miR-4657	CLIP-seq
MIRT885446	hsa-miR-4726-3p	CLIP-seq
MIRT885447	hsa-miR-4731-5p	CLIP-seq
MIRT885448	hsa-miR-4784	CLIP-seq
MIRT885449	hsa-miR-491-5p	CLIP-seq
MIRT885450	hsa-miR-539	CLIP-seq
MIRT885451	hsa-miR-608	CLIP-seq
MIRT885452	hsa-miR-619	CLIP-seq
MIRT885453	hsa-miR-631	CLIP-seq
MIRT885454	hsa-miR-637	CLIP-seq
MIRT885455	hsa-miR-765	CLIP-seq
MIRT885456	hsa-miR-769-5p	CLIP-seq
MIRT885457	hsa-miR-939	CLIP-seq
MIRT885429	hsa-miR-2355-5p	CLIP-seq
MIRT885430	hsa-miR-299-3p	CLIP-seq
MIRT1962621	hsa-miR-31	CLIP-seq
MIRT885431	hsa-miR-3117-5p	CLIP-seq
MIRT885433	hsa-miR-3150a-3p	CLIP-seq
MIRT885434	hsa-miR-3150b-3p	CLIP-seq
MIRT1962622	hsa-miR-3151	CLIP-seq
MIRT885435	hsa-miR-3175	CLIP-seq
MIRT885437	hsa-miR-3661	CLIP-seq
MIRT885438	hsa-miR-4254	CLIP-seq
MIRT885439	hsa-miR-4434	CLIP-seq
MIRT1962623	hsa-miR-4447	CLIP-seq
MIRT1962624	hsa-miR-4472	CLIP-seq
MIRT1962625	hsa-miR-4488	CLIP-seq
MIRT885440	hsa-miR-4491	CLIP-seq
MIRT885441	hsa-miR-4516	CLIP-seq
MIRT885442	hsa-miR-4531	CLIP-seq
MIRT885443	hsa-miR-4651	CLIP-seq
MIRT885445	hsa-miR-4657	CLIP-seq
MIRT1962626	hsa-miR-4697-5p	CLIP-seq
MIRT885446	hsa-miR-4726-3p	CLIP-seq
MIRT885447	hsa-miR-4731-5p	CLIP-seq
MIRT885448	hsa-miR-4784	CLIP-seq
MIRT885449	hsa-miR-491-5p	CLIP-seq
MIRT885450	hsa-miR-539	CLIP-seq
MIRT885451	hsa-miR-608	CLIP-seq
MIRT885452	hsa-miR-619	CLIP-seq
MIRT885453	hsa-miR-631	CLIP-seq
MIRT885454	hsa-miR-637	CLIP-seq
MIRT885455	hsa-miR-765	CLIP-seq
MIRT885456	hsa-miR-769-5p	CLIP-seq
MIRT885457	hsa-miR-939	CLIP-seq
MIRT885431	hsa-miR-3117-5p	CLIP-seq
MIRT885433	hsa-miR-3150a-3p	CLIP-seq
MIRT885434	hsa-miR-3150b-3p	CLIP-seq
MIRT885435	hsa-miR-3175	CLIP-seq
MIRT885437	hsa-miR-3661	CLIP-seq
MIRT885443	hsa-miR-4651	CLIP-seq
MIRT885447	hsa-miR-4731-5p	CLIP-seq
MIRT885448	hsa-miR-4784	CLIP-seq
MIRT885449	hsa-miR-491-5p	CLIP-seq
MIRT885451	hsa-miR-608	CLIP-seq
MIRT885452	hsa-miR-619	CLIP-seq
MIRT885453	hsa-miR-631	CLIP-seq
MIRT885454	hsa-miR-637	CLIP-seq
MIRT885455	hsa-miR-765	CLIP-seq
MIRT885456	hsa-miR-769-5p	CLIP-seq
MIRT885457	hsa-miR-939	CLIP-seq

Show/Hide all (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
GO:0000776	Component	Kinetochore	IEA
GO:0000939	Component	Inner kinetochore	IPI	36085283
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	19070575, 19533040, 22304917, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	36085283
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0005829	Component	Cytosol	TAS
GO:0007059	Process	Chromosome segregation	IBA
GO:0007059	Process	Chromosome segregation	IMP	21529714
GO:0007059	Process	Chromosome segregation	NAS	36085283
GO:0016604	Component	Nuclear body	IDA
GO:0046982	Function	Protein heterodimerization activity	IEA
GO:0051276	Process	Chromosome organization	IMP	21695110
GO:0051301	Process	Cell division	IEA
GO:0051382	Process	Kinetochore assembly	IEA
GO:0051382	Process	Kinetochore assembly	IMP	21529714

MIM	HGNC	e!Ensembl
611510	25787	ENSG00000102901

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

MADHNPDSDSTPRTLLRRVLDTADPRTPRRPRSARAGARRALLETASPRKLSGQTRTIAR
GRSHGARSVGRSAHIQASGHLEEQTPRTLLKNILLTAPESSILMPESVVKPVPAPQAVQP
SRQESSCGSLELQLPELEPPTTLAPGLLAPGRRKQRLRLSVFQQGVDQGLSLSQEPQGNA
DASSLTRSLNLTFATPLQPQSVQRPGLARRPPARRAVDVGAFLRDLRDTSLAPPNIVLED
TQPFSQPMVGSPNVYHSLPCTPHTGAEDAEQAAGRKTQSSGPGLQKNSPGKPAQFLAGEA
EEVNAFALGFLSTSSGVSGEDEVEPLHDGVEEAEKKMEEEGVSVSEMEATGAQGPSRVEE
AEGHTEVTEAEGSQGTAEADGPGASSGDEDASGRAASPESASSTPESLQARRHHQFLEPA
PAPGAAVLSSEPAEPLLVRHPPRPRTTGPRPRQDPHKAGLSHYVKLFSFYAKMPMERKAL
EMVEKCLDKYFQHLCDDLEVFAAHAGRKTVKPEDLELLMRRQGLVTDQVSLHVLVERHLP
LEYRQLLIPCAYSGNSVFPAQ

Sequence length

561

Interactions

View interactions

	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

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)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Short stature and microcephaly with genital anomalies	Pathogenic	rs1364608764	RCV000984535	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
CENPT-related disorder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLX TYPE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (4)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Brachycephaly	Brachycephaly	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED 3	Mental retardation	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	23418382	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

CENPT (centromere protein T)