CCNQ (cyclin Q)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
92002
Gene name Gene Name - the full gene name approved by the HGNC.
Cyclin Q
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CCNQ
Synonyms (NCBI Gene) Gene synonyms aliases
CycM, FAM58A
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq28
Summary Summary of gene provided in NCBI Entrez Gene.
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 information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(4)
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 miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(16)
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(8)
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
300708 28434 ENSG00000262919
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome syndactyly-telecanthus-anogenital and renal malformations syndrome rs1569536789, rs1569536891, rs63749972 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes Type 2 diabetes N/A N/A GWAS
Show/Hide Text Mining Associations (3)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Developmental Disabilities Associate 34369103
Neoplasms Associate 37967237
Toe Syndactyly Telecanthus and Anogenital and Renal Malformations Associate 27104747, 29130579