Gene Gene information from NCBI Gene database.
Entrez ID 55166
Gene name Centromere protein Q
Gene symbol CENPQ
Synonyms (NCBI Gene)
C6orf139CENP-Q
Chromosome 6
Chromosome location 6p12.3
Summary CENPQ 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
miRNA miRNA information provided by mirtarbase database.
288
miRTarBase ID miRNA Experiments Reference
MIRT016444 hsa-miR-193b-3p Microarray 20304954
MIRT020077 hsa-miR-361-5p Sequencing 20371350
MIRT022897 hsa-miR-124-3p Microarray 18668037
MIRT029904 hsa-miR-26b-5p Microarray 19088304
MIRT704737 hsa-miR-4282 HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
GO ID Ontology Definition Evidence Reference
GO:0000775 Component Chromosome, centromeric region IEA
GO:0000939 Component Inner kinetochore IPI 36085283
GO:0005515 Function Protein binding IPI 26496610, 32296183, 33961781
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611506 21347 ENSG00000031691
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q7L2Z9
Protein name Centromere protein Q (CENP-Q)
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
PDB 7PB8 , 7PKN , 7QOO , 7R5S , 7R5V , 7XHN , 7XHO , 7YWX , 7YYH
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13094 CENP-Q 116 266 CENP-Q, a CENPA-CAD centromere complex subunit Family
Sequence
MSGKANASKKNAQQLKRNPKRKKDNEEVVLSENKVRNTVKKNKNHLKDLSSEGQTKHTNL
KHGKTAASKRKTWQPLSKSTRDHLQTMMESVIMTILSNSIKEKEEIQYHLNFLKKRLLQQ
CETLKVPPKKMEDLTNVSSLLNMERARDKANEEGLALLQEEIDKMVETTELMTGNIQSLK
NKIQILASEVEEEEERVKQMHQINSSGVLSLPELSQKTLKAPTLQKEILALIPNQNALLK
DLDILHNSSQMKSMSTFIEEAYKKLD
AS
Sequence length 268
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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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 Evidence Score
STROKE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 34457090 Associate
★☆☆☆☆
Found in Text Mining only
Esophageal Neoplasms Esophageal neoplasm Pubtator 35496042 Associate
★☆☆☆☆
Found in Text Mining only
Esophageal Squamous Cell Carcinoma Esophageal squamous cell carcinoma Pubtator 35496042 Associate
★☆☆☆☆
Found in Text Mining only
Scleroderma Systemic Systemic sclerosis Pubtator 23418382 Associate
★☆☆☆☆
Found in Text Mining only
Stroke Stroke Pubtator 36691064 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations