CCNQ (cyclin Q)

Gene

• Entrez ID: 92002
• Gene name: Cyclin Q
• Gene symbol: CCNQ
• Synonyms (NCBI Gene): CycM, FAM58A
• Chromosome: X
• Chromosome location: Xq28
• Summary: 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs63749972	C>T	Pathogenic	Intron variant, splice acceptor variant
rs1057521251	C>A	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1569536789	C>T	Pathogenic	Splice donor variant
rs1569536891	->A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT721318	hsa-miR-1228-3p	HITS-CLIP	19536157
MIRT721317	hsa-miR-6801-3p	HITS-CLIP	19536157
MIRT721316	hsa-miR-6810-3p	HITS-CLIP	19536157
MIRT721315	hsa-miR-6752-3p	HITS-CLIP	19536157
MIRT721314	hsa-miR-1205	HITS-CLIP	19536157
MIRT721313	hsa-miR-1913	HITS-CLIP	19536157
MIRT721312	hsa-miR-324-3p	HITS-CLIP	19536157
MIRT721311	hsa-miR-873-5p	HITS-CLIP	19536157
MIRT721310	hsa-miR-1286	HITS-CLIP	19536157
MIRT721309	hsa-miR-4722-5p	HITS-CLIP	19536157
MIRT721308	hsa-miR-4313	HITS-CLIP	19536157
MIRT721307	hsa-miR-6802-3p	HITS-CLIP	19536157
MIRT727705	hsa-miR-181a-5p	HITS-CLIP	22473208
MIRT727704	hsa-miR-181b-5p	HITS-CLIP	22473208
MIRT727703	hsa-miR-181c-5p	HITS-CLIP	22473208
MIRT727702	hsa-miR-181d-5p	HITS-CLIP	22473208

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000307	Component	Cyclin-dependent protein kinase holoenzyme complex	IEA
GO:0000307	Component	Cyclin-dependent protein kinase holoenzyme complex	IPI	24218572
GO:0005515	Function	Protein binding	IPI	18297069, 24218572
GO:0005634	Component	Nucleus	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0016538	Function	Cyclin-dependent protein serine/threonine kinase regulator activity	IBA
GO:0016538	Function	Cyclin-dependent protein serine/threonine kinase regulator activity	IEA
GO:1902749	Process	Regulation of cell cycle G2/M phase transition	IDA	7664269

Other IDs

• MIM: 300708
• HGNC: 28434
• e!Ensembl: ENSG00000262919

Protein

• UniProt ID: Q8N1B3
• Protein name: Cyclin-Q (CDK10-activating cyclin) (Cyclin-M) (Cyclin-related protein FAM58A)
• Protein function: Activating cyclin for the cyclin-associated kinase CDK10.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00134	Cyclin_N	14 → 137	Cyclin, N-terminal domain	Domain

• Sequence:

  MEAPEGGGGGPAARGPEGQPAPEARVHFRVARFIMEAGVKLGMRSIPIATACTIYHKFFC
  ETNLDAYDPYLIAMSSIYLAGKVEEQHLRTRDIINVSNRYFNPSGEPLELDSRFWELRDS
  IVQCELLMLRVLRFQVSFQHPHKYLLHYLVSLQNWLNRHSWQRTPVAVTAWALLRDSYHG
  ALCLRFQAQHIAVAVLYLALQVYGVEVPAEVEAEKPWWQVFNDDLTKPIIDNIVSDLIQI
  YTMDTEIP

• Sequence length: 248

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Syndactyly-telecanthus-anogenital and renal malformations syndrome	Likely pathogenic; Pathogenic	rs2148299424, rs1569536789, rs1569536891, rs63749972	RCV002245288 RCV000011419 RCV000011420 RCV000011421

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
CCNQ-related disorder	Likely benign; Benign	rs782319474, rs1557027858, rs2521888030, rs782046039, rs1166475022	RCV003921654 RCV003902216 RCV003962148 RCV003949265 RCV003947135
Decreased total lymphocyte count	Likely benign	rs150562029	RCV002227501
Decreased total neutrophil count	Likely benign	rs150562029	RCV002227501

Associations from Text Mining
Disease Name	Relationship Type	References
Developmental Disabilities	Associate	34369103
Neoplasms	Associate	37967237
Toe Syndactyly Telecanthus and Anogenital and Renal Malformations	Associate	27104747, 29130579