CCNQ - cyclin Q Gene

中文名称：细胞周期素 Q

种属: Homo sapiens

同用名: CycM; FAM58A

基因 ID: 92002 | 基因类型: protein coding

关于 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.

功能概要

该基因的突变已被证明会导致 X 连锁显性 STAR 综合征，通常表现为并指畸形、内眦赘皮以及肛门生殖器和肾脏畸形。该基因编码的蛋白质包含一个细胞周期蛋白盒折叠结构域，这表明它可能在控制核细胞分裂周期中发挥作用。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供，2008 年 10 月]

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 基因产物(2)

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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	18297069	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in regulation of cell cycle G2/M phase transition	IDA IDA: 通过直接分析推断	7664269	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of cyclin-dependent protein kinase holoenzyme complex	IPI IPI: 通过物理相互作用推断	24218572	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

CCNQ 蛋白结构

Cyclin_N

0
100
200
246 a.a.

蛋白主名

其他名称

cyclin-Q

CDK10-activating cyclin

CCNQ 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	CCNQ	Q8N1B3	CDK10	Homo sapiens	Q15131-1	Anti Tag CoIP	24218572
种属内	CCNQ	Q8N1B3	CDK10	Homo sapiens	Q15131-1	LexA B52 Complement	24218572
种属内	CCNQ	Q8N1B3	CDK10	Homo sapiens	Q15131-1	Pull Down	24218572

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

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

疾病名称	别名
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.	产品名	作用方式	纯度	是否罕见病
HY-RS02140	CCNQ Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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

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