• Gene id: 92002

Gene Summary

• Gene Symbol: CCNQ   Gene   UCSC   Ensembl
• Aliases: CycM, FAM58A
• Gene name: cyclin Q
• Alternate names: cyclin-Q, CDK10-activating cyclin, cyclin M, cyclin-related protein FAM58A, family with sequence similarity 58 member A,
• Gene location: Xq28 (153599164: 153587924)     Exons: 6     NC_000023.11
• Gene summary(Entrez): Mutations in this gene have been shown to cause an X-linked dominant STAR syndrome that typically manifests syndactyly, telecanthus and anogenital and renal malformations. The protein encoded by this gene contains a cyclin-box-fold domain which suggests i
• OMIM: 300708

Protein Summary

• Protein general information: Q8N1B3  
  • Name: Cyclin Q (CDK10 activating cyclin) (Cyclin M) (Cyclin related protein FAM58A)
  • Length: 248  
  • Mass: 28369
• Sequence:

  MEAPEGGGGGPAARGPEGQPAPEARVHFRVARFIMEAGVKLGMRSIPIATACTIYHKFFCETNLDAYDPYLIAMS
  SIYLAGKVEEQHLRTRDIINVSNRYFNPSGEPLELDSRFWELRDSIVQCELLMLRVLRFQVSFQHPHKYLLHYLV
  SLQNWLNRHSWQRTPVAVTAWALLRDSYHGALCLRFQAQHIAVAVLYLALQVYGVEVPAEVEAEKPWWQVFNDDL
  TKPIIDNIVSDLIQIYTMDTEIP

• Structural information:
  • Interpro: IPR013763  IPR036915  IPR028759  IPR006671  
  • CDD: cd00043
  • STRING: ENSP00000402949
• Other Databases: GeneCards:  CCNQ  Malacards:  CCNQ

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IBA	cellular component
GO:0016538	cyclin-dependent protein serine/threonine kinase regulator activity	IBA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0042025	host cell nucleus	IEA	cellular component
GO:0016538	cyclin-dependent protein serine/threonine kinase regulator activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000079	regulation of cyclin-dependent protein serine/threonine kinase activity	IEA	biological process
GO:0000079	regulation of cyclin-dependent protein serine/threonine kinase activity	IEA	biological process
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
STAR syndrome	KEGG:H01156
STAR syndrome	KEGG:H01156
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881