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CCNQ cyclin Q [ Homo sapiens (human) ]

Gene ID: 92002, updated on 24-Nov-2020

Summary

Official Symbol
CCNQprovided by HGNC
Official Full Name
cyclin Qprovided by HGNC
Primary source
HGNC:HGNC:28434
See related
Ensembl:ENSG00000262919 MIM:300708
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CycM; FAM58A
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]
Expression
Ubiquitous expression in spleen (RPKM 3.6), placenta (RPKM 3.2) and 25 other tissues See more
Orthologs

Genomic context

See CCNQ in Genome Data Viewer
Location:
Xq28
Exon count:
6
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (153587925..153599165, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (152853383..152864632, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene HAUS augmin like complex subunit 7 Neighboring gene biglycan Neighboring gene ATPase plasma membrane Ca2+ transporting 3 Neighboring gene uncharacterized LOC105373383 Neighboring gene keratin 18 pseudogene 48

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Phenotypes

Associated conditions

Description Tests
A genome-wide association study identifies GRK5 and RASGRP1 as type 2 diabetes loci in Chinese Hans.
GeneReviews: Not available
Syndactyly-telecanthus-anogenital and renal malformations syndrome
MedGen: C2678045 OMIM: 300707 GeneReviews: Not available
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Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2013-04-26)

ClinGen Genome Curation Page
Haploinsufficency

Some evidence for dosage pathogenicity (Last evaluated (2013-04-26)

ClinGen Genome Curation PagePubMed

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC29729

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cyclin-dependent protein serine/threonine kinase regulator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
regulation of cyclin-dependent protein serine/threonine kinase activity IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
cyclin-Q
Names
CDK10-activating cyclin
cyclin M
cyclin-related protein FAM58A
family with sequence similarity 58 member A

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008393.2 RefSeqGene

    Range
    5039..16253
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001130997.3NP_001124469.1  cyclin-Q isoform 2

    See identical proteins and their annotated locations for NP_001124469.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 3' coding region, compared to variant 1, resulting in an isoform (2) with a region missing from the C-terminus, compared to isoform 1.
    Source sequence(s)
    BC001909, BG766429
    Consensus CDS
    CCDS76054.1
    UniProtKB/Swiss-Prot
    Q8N1B3
    Related
    ENSP00000402949.2, ENST00000440428.5
    Conserved Domains (1) summary
    cl28538
    Location:33208
    CCL1; Cdk activating kinase (CAK)/RNA polymerase II transcription initiation/nucleotide excision repair factor TFIIH/TFIIK, cyclin H subunit [Cell division and chromosome partitioning / Transcription / DNA replication, recombination, and repair]
  2. NM_152274.5NP_689487.2  cyclin-Q isoform 1

    See identical proteins and their annotated locations for NP_689487.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    BC001909, BG766429
    UniProtKB/Swiss-Prot
    Q8N1B3
    Related
    ENSP00000461135.1, ENST00000576892.8
    Conserved Domains (1) summary
    cl28538
    Location:33208
    CCL1; Cdk activating kinase (CAK)/RNA polymerase II transcription initiation/nucleotide excision repair factor TFIIH/TFIIK, cyclin H subunit [Cell division and chromosome partitioning / Transcription / DNA replication, recombination, and repair]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    153587925..153599165 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005277921.4XP_005277978.1  cyclin-Q isoform X2

    Conserved Domains (1) summary
    cd00043
    Location:32129
    CYCLIN; Cyclin box fold. Protein binding domain functioning in cell-cycle and transcription control. Present in cyclins, TFIIB and Retinoblastoma (RB).The cyclins consist of 8 classes of cell cycle regulators that regulate cyclin dependent kinases (CDKs). TFIIB ...
  2. XM_005277920.4XP_005277977.1  cyclin-Q isoform X1

    Conserved Domains (1) summary
    cd00043
    Location:32129
    CYCLIN; Cyclin box fold. Protein binding domain functioning in cell-cycle and transcription control. Present in cyclins, TFIIB and Retinoblastoma (RB).The cyclins consist of 8 classes of cell cycle regulators that regulate cyclin dependent kinases (CDKs). TFIIB ...
  3. XM_011531215.2XP_011529517.1  cyclin-Q isoform X3

    See identical proteins and their annotated locations for XP_011529517.1

    Conserved Domains (1) summary
    cd00043
    Location:687
    CYCLIN; Cyclin box fold. Protein binding domain functioning in cell-cycle and transcription control. Present in cyclins, TFIIB and Retinoblastoma (RB).The cyclins consist of 8 classes of cell cycle regulators that regulate cyclin dependent kinases (CDKs). TFIIB ...
  4. XM_011531214.2XP_011529516.1  cyclin-Q isoform X3

    See identical proteins and their annotated locations for XP_011529516.1

    Conserved Domains (1) summary
    cd00043
    Location:687
    CYCLIN; Cyclin box fold. Protein binding domain functioning in cell-cycle and transcription control. Present in cyclins, TFIIB and Retinoblastoma (RB).The cyclins consist of 8 classes of cell cycle regulators that regulate cyclin dependent kinases (CDKs). TFIIB ...

RNA

  1. XR_002958810.1 RNA Sequence

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