Entity Details

Primary name CCNQ
Entity type gene
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Details

PrimaryID92002
RefseqGeneNG_008393
SymbolCCNQ
Namecyclin Q
ChromosomeX
LocationXq28
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-07-12
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCCNQ_HUMAN

GO terms

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GOName
GO:0005634 nucleus
GO:0006357 regulation of transcription by RNA polymerase II
GO:0016538 cyclin-dependent protein serine/threonine kinase regulator activity

Diseases

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Disease IDSourceNameDescription
300707 OMIMToe syndactyly, telecanthus, and anogenital and renal malformations (STAR)A syndrome characterized by anal, genital and renal tract anomalies, facial dysmorphism and syndactyly. Features include anal stenosis, a rectovaginal fistula, clitoral hypertrophy, a pelvic right kidney, toe syndactyly, and telecanthus. The disease is caused by variants affecting the gene represented in this entry.