CCNQ - cyclin Q Gene

Also Known as CycM; FAM58A

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 92002

About CCNQ

Cytogenetic location: Xq28 Genomic coordinates (GRCh38): X:153,587,925-153,599,139 (from NCBI)

This gene has 9 transcripts (splice variants), 187 orthologues, 6 paralogues and is associated with 3 phenotypes. Ubiquitous expression in spleen (RPKM 3.6), placenta (RPKM 3.2) and 25 other tissues.

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 it may have a role in controlling nuclear cell division cycles. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]

CCNQ Products (2)

mRNA	Protein	Name
NM_001130997.3	NP_001124469.1	cyclin-Q isoform 2
NM_152274.5	NP_689487.2	cyclin-Q isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	18297069	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in regulation of cell cycle G2/M phase transition	IDA IDA: Inferred from direct assay	7664269	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of cyclin-dependent protein kinase holoenzyme complex	IPI IPI: Inferred from physical interaction	24218572	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CCNQ Protein Structure

Cyclin_N

0
100
200
246 a.a.

Protein Preferred Names	Protein Names
cyclin-Q	CDK10-activating cyclin

CCNQ Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	CCNQ	Q8N1B3	CDK10	Homo sapiens	Q15131-1	Anti Tag CoIP	24218572
Intra	CCNQ	Q8N1B3	CDK10	Homo sapiens	Q15131-1	LexA B52 Complement	24218572
Intra	CCNQ	Q8N1B3	CDK10	Homo sapiens	Q15131-1	Pull Down	24218572

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Star Syndrome Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome Syndactyly With Renal And Anogenital Malformations STAR Syndactyly, Telecanthus, Anogenital And Renal Malformations Toe Syndactyly, Telecanthus, Anogenital And Renal Malformations
Telecanthus
Jalili Syndrome	Cone-Rod Dystrophy And Amelogenesis Imperfecta Cone Rod Dystrophy-Amelogenesis Imperfecta Syndrome Cone-Rod Dystrophy Amelogenesis Imperfecta Cone-Rod Dystrophy With Amelogenesis Imperfecta JALIS Cone Rod Dystrophy Amelogenesis Imperfecta
Waisman Syndrome	Early-Onset Parkinsonism-Intellectual Disability Syndrome Bgmr Wsn Laxova-Opitz Syndrome WSMN Parkinsonism, Early-Onset, With Mental Retardation Basal Ganglion Disorder With Mental Retardation Basal Ganglia Disorder With Intellectual Disability Laxova Brown Hogan Syndrome X-Linked Recessive Basal Ganglia Disorder With Intellectual Disability
Primary Hypomagnesemia	Familial Primary Hypomagnesemia Homg Primary Familial Hypomagnesemia Genetic Primary Hypomagnesemia Hypomagnesemia 1, Intestinal
Terminal Osseous Dysplasia	Terminal Osseous Dysplasia And Pigmentary Defects Terminal Osseous Dysplasia-Pigmentary Defects Syndrome Todpd TOD Odpd Odpf Syndrome Osseous Dysplasia, Digital, With Facial Pigmentary Defects And Multiple Frenula Odpf Digital Osseous Dysplasia With Facial Pigmentary Defects And Multiple Frenula Terminal Osseous Dysplasia With Pigmentary Defects Dcd Digitocutaneous Dysplasia Terminal Osseous Dysplasia And Pigmentary Defect Syndrome Osseous Dysplasia And Pigmentary Defects
Townes-Brocks Syndrome	Townes Syndrome Renal-Ear-Anal-Radial Syndrome Anus, Imperforate, With Hand, Foot And Ear Anomalies Imperforate Anus-Hand, Foot And Ear Anomalies Syndrome Rear Syndrome Sensorineural Deafness With Imperforate Anus And Hypoplastic Thumbs Tbs Deafness, Sensorineural, With Imperforate Anus And Hypoplastic Thumbs Imperforate Anus With Hand, Foot And Ear Anomalies Anal-Ear-Renal-Radial Malformation Syndrome Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome Imperforate Anus-Hand And Foot Anomalies Syndrome Sensorineural Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome Sensorineural Hearing Loss With Imperforate Anus And Hypoplastic Thumbs
Chromosome 2q35 Duplication Syndrome	Syndactyly Syndactyly Type 1 Sdty1 Zygodactyly Syndactyly, Type I Sd1 Syndactyly, Type 1, With Or Without Craniosynostosis Symphalangism Non-Syndromic Syndactyly Symphalangy Webbing Of Digits Syndactyly, Type 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02140	CCNQ Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	CCNQ	RGD	RGD:1305651
Felis catus	CCNQ	VGNC	VGNC:97375
Canis familiaris	CCNQ	VGNC	VGNC:54126
Bos taurus	CCNQ	VGNC	VGNC:56523
Macaca mulatta	CCNQ	VGNC	VGNC:103796
Mus musculus	CCNQ	MGD	MGI:1916359
Others	CCNQ	NCBI