CCNQ - cyclin Q Gene

Homo sapiens

Also known as CycM; FAM58A

Gene ID: 92002 | Gene type: protein coding

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

CCNQ Protein Structure

Cyclin_N

0
100
200
246 a.a.

Protein Preferred Names

Protein Names

cyclin-Q

CDK10-activating cyclin

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

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