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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CCNQ
cyclin Q
Chromosome X · Xq28
NCBI Gene: 92002Ensembl: ENSG00000262919.9HGNC: HGNC:28434UniProt: Q8N1B3
23PubMed Papers
21Diseases
0Drugs
8Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
regulation of cell cycle G2/M phase transitionprotein bindingnucleuscyclin-dependent protein serine/threonine kinase regulator activitysyndactyly-telecanthus-anogenital and renal malformations syndromeSyndactyly - telecanthus - anogenital and renal malformationshypertriglyceridemia 2fish eye disease
✦AI Summary

Insufficient information to provide a comprehensive gene function summary. The provided PubMed abstracts address clinical conditions including shock, respiratory failure, COPD, obstetric emergencies, sepsis, pneumothorax, pulmonary embolism, and hemoptysis—none of which contain data about CCNQ (cyclin Q) function or related molecular mechanisms. Based on the provided metadata only: CCNQ is a cyclin that acts as an activating partner for CDK10, a cyclin-dependent kinase. According to UniProt annotations, CCNQ functions as a cyclin-dependent protein serine/threonine kinase regulator and participates in regulation of the G2/M phase transition during the cell cycle, with localization to the nucleus. CCNQ is located on the X chrX. The gene is associated with developmental abnormalities including toe syndactyly, telecanthus, and anogenital and renal malformations, suggesting critical roles in embryonic development. However, the molecular mechanisms by which CCNQ-CDK10 regulates cell cycle progression, specific substrate proteins, tissue-specific expression patterns, and detailed pathogenic mechanisms underlying associated developmental disorders cannot be established from the provided abstracts. Additional primary literature specifically investigating CCNQ biology would be required for a complete functional summary.

⚠Limited data available — This gene has 0 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ21
syndactyly-telecanthus-anogenital and renal malformations syndromeOpen Targets
0.66Moderate
Syndactyly - telecanthus - anogenital and renal malformationsOpen Targets
0.52Moderate
hypertriglyceridemia 2Open Targets
0.06Suggestive
fish eye diseaseOpen Targets
0.05Suggestive
Fish-eye diseaseOpen Targets
0.05Suggestive
hypoalphalipoproteinemia, primary, 1Open Targets
0.04Suggestive
hyperlipidemia due to hepatic triglyceride lipase deficiencyOpen Targets
0.04Suggestive
familial hypercholesterolemiaOpen Targets
0.04Suggestive
homozygous familial hypercholesterolemiaOpen Targets
0.04Suggestive
Combined hyperlipidemiaOpen Targets
0.04Suggestive
cancerOpen Targets
0.01Suggestive
gallbladder cancerOpen Targets
0.01Suggestive
type 2 diabetes mellitusOpen Targets
0.01Suggestive
Al Kaissi syndromeOpen Targets
0.00Suggestive
hereditary spastic paraplegia 7Open Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
breast cancerOpen Targets
0.00Suggestive
gastric cancerOpen Targets
0.00Suggestive
Abnormal renal morphologyOpen Targets
0.00Suggestive
telecanthusOpen Targets
0.00Suggestive
Toe syndactyly, telecanthus, and anogenital and renal malformationsUniProt
Pathogenic Variants8
NM_152274.5(CCNQ):c.651G>A (p.Trp217Ter)Likely pathogenic
Syndactyly-telecanthus-anogenital and renal malformations syndrome
★☆☆☆2022→ Residue 217
NM_152274.5(CCNQ):c.655C>T (p.Gln219Ter)Pathogenic
not provided
★☆☆☆2020→ Residue 219
NM_152274.5(CCNQ):c.616G>T (p.Glu206Ter)Likely pathogenic
not provided
★☆☆☆2016→ Residue 206
NC_000023.11:g.153585471_153589719delPathogenic
Syndactyly-telecanthus-anogenital and renal malformations syndrome
☆☆☆☆2008
NM_152274.5(CCNQ):c.657+1G>APathogenic
Syndactyly-telecanthus-anogenital and renal malformations syndrome
☆☆☆☆2008
NM_152274.5(CCNQ):c.303dup (p.Asn102Ter)Pathogenic
Syndactyly-telecanthus-anogenital and renal malformations syndrome
☆☆☆☆2008→ Residue 102
NM_152274.5(CCNQ):c.658-1G>APathogenic
Syndactyly-telecanthus-anogenital and renal malformations syndrome
☆☆☆☆2008
NC_000023.11:g.153595512_153635582delPathogenic
Syndactyly-telecanthus-anogenital and renal malformations syndrome
☆☆☆☆2008
View on ClinVar ↗
Related Genes
CDK10Protein interaction84%SALL1Protein interaction78%SALL4Protein interaction78%NEK10Shared pathway25%USP50Shared pathway17%ING4Shared pathway10%
Tissue Expression6 tissues
Heart
100%
Brain
78%
Liver
67%
Lung
65%
Ovary
55%
Bone Marrow
31%
Gene Interaction Network
Click a node to explore
CCNQCDK10SALL1SALL4NEK10USP50ING4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8N1B3
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.44Moderately Constrained
pLIⓘ
0.99Intolerant
Observed/Expected LoF0.17 [0.08–0.44]
RankingsWhere CCNQ stands among ~20K protein-coding genes
  • #13,383of 20,598
    Most Researched23
  • #3,132of 5,498
    Most Pathogenic Variants8
  • #2,388of 17,882
    Most Constrained (LOEUF)0.44 · top quartile
Genes detectedCCNQ
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Shock.
PMID: 35617089
Crit Care Nurs Q · 2022
1.00
2
Pathophysiology and Classification of Respiratory Failure.
PMID: 26919670
Crit Care Nurs Q · 2016
0.90
3
Pathophysiology of COPD.
PMID: 33234854
Crit Care Nurs Q · 2021
0.80
4
Obstetric Emergencies.
PMID: 36415068
Crit Care Nurs Q · 2023
0.70
5
Post-Sepsis Syndrome.
PMID: 33595965
Crit Care Nurs Q · 2021
0.60