CCNQ (cyclin Q)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 92002
Gene name Cyclin Q
Gene symbol CCNQ
Synonyms (NCBI Gene)
CycMFAM58A
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 information provided by dbSNP.
4
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.
16
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
300708 28434 ENSG00000262919
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Syndactyly-telecanthus-anogenital and renal malformations syndrome Likely pathogenic; Pathogenic rs2148299424, rs1569536789, rs1569536891, rs63749972 RCV002245288
RCV000011419
RCV000011420
RCV000011421
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (6)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CCNQ-related disorder Likely benign; Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Decreased total lymphocyte count Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Decreased total neutrophil count Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (36)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Age related macular degeneration Age-related macular degeneration HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Anus, Imperforate Imperforate anus HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Aortic Valve Insufficiency Aortic Valve Insufficiency HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Bicuspid aortic valve Bicuspid aortic valve HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Clinodactyly of the 5th finger Camptodactyly of fingers HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Congenital absence of kidneys syndrome Renal agenesis HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Congenital hypoplasia of radius Congenital Hypoplasia Of Radius HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Developmental Disabilities Developmental disability Pubtator 34369103 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus GWASDB_DG 22961080
★★★★★
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus GWASCAT_DG 22961080
★★★★★
★☆☆☆☆
Found in Text Mining only