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    CCNQ cyclin Q [ Homo sapiens (human) ]

    Gene ID: 92002, updated on 5-Mar-2024

    Summary

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    Official Symbol
    CCNQprovided by HGNC
    Official Full Name
    cyclin Qprovided by HGNC
    Primary source
    HGNC:HGNC:28434
    See related
    Ensembl:ENSG00000262919 MIM:300708; AllianceGenome:HGNC:28434
    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
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    Genomic context

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    See CCNQ in Genome Data Viewer
    Location:
    Xq28
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (153587925..153599139, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (151861560..151872816, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (152853383..152864595, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene HAUS augmin like complex subunit 7 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30035 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30036 Neighboring gene biglycan Neighboring gene ATPase plasma membrane Ca2+ transporting 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:152809330-152810182 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:152825847-152826631 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:152831014-152831626 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21064 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21065 Neighboring gene uncharacterized LOC105373383 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21066 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:152866105-152866606 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:152866607-152867106 Neighboring gene keratin 18 pseudogene 48

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. STAR syndrome plus: The first description of a female patient with the lethal form. Bedeschi MF, et al. Am J Med Genet A, 2017 Dec. PMID 29088509
    2. Multigenerational pedigree with STAR syndrome: A novel FAM58A variant and expansion of the phenotype. Boczek NJ, et al. Am J Med Genet A, 2017 May. PMID 28322501
    3. STAR syndrome: a further case and the first report of maternal mosaicism. Lefroy H, et al. Clin Dysmorphol, 2017 Jul. PMID 28225384
    4. Ocular manifestations of X-linked dominant FAM58A mutation in toe syndactyly, telecanthus, anogenital, and renal malformations ('STAR') syndrome. Orge FH, et al. Ophthalmic Genet, 2016 Sep. PMID 26882209
    5. STAR syndrome is part of the differential diagnosis of females with anorectal malformations. Zarate YA, et al. Am J Med Genet A, 2015 Aug. PMID 25845904

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Functional characterization of the human Cdk10/Cyclin Q complex.
      Title: Functional characterization of the human Cdk10/Cyclin Q complex.
    2. Functional characterization of CDK10 and cyclin M truncated variants causing severe developmental disorders.
      Title: Functional characterization of CDK10 and cyclin M truncated variants causing severe developmental disorders.
    3. These ophthalmic findings are the first reported to our knowledge in association with STAR syndrome. The literature frequently demonstrates that patients with developmental anomalies often have ocular manifestations, warranting a full ophthalmic examination when the diagnosis of STAR syndrome has been made or is being considered.
      Title: Ocular manifestations of X-linked dominant FAM58A mutation in toe syndactyly, telecanthus, anogenital, and renal malformations ('STAR') syndrome.
    4. this is the first occurrence of a nonsense variant in FAM58A described in individuals with STAR syndrome and the phenotype in this pedigree suggests that tethered cord and hearing loss are features of STAR syndrome.
      Title: Multigenerational pedigree with STAR syndrome: A novel FAM58A variant and expansion of the phenotype.
    5. Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations.
      Title: Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Syndactyly-telecanthus-anogenital and renal malformations syndrome
    MedGen: C2678045 OMIM: 300707 GeneReviews: Not available
    		Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    Some evidence for dosage pathogenicity (Last evaluated 2021-12-01)

    ClinGen Genome Curation PagePubMed
    Triplosensitivity

    No evidence available (Last evaluated 2021-12-01)

    ClinGen Genome Curation Page

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies GRK5 and RASGRP1 as type 2 diabetes loci in Chinese Hans.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC29729

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cyclin-dependent protein serine/threonine kinase regulator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of cell cycle G2/M phase transition IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of cyclin-dependent protein kinase holoenzyme complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    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)

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    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_001130997.3 → NP_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
      Related
      ENSP00000402949.2, ENST00000440428.5
      Conserved Domains (2) summary
      cd20534
      Location:26 → 135
      CYCLIN_CCNM_CCNQ_rpt1; first cyclin box found in cyclin-M (CCNM) family
      cd20535
      Location:140 → 220
      CYCLIN_CCNM_CCNQ_rpt2; second cyclin box found in cyclin-M (CCNM) family

    2. NM_152274.5 → NP_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
      Q2I380, Q330J9, Q8N1B3, Q96IU5, Q9BUU1
      Related
      ENSP00000461135.1, ENST00000576892.8
      Conserved Domains (2) summary
      cd20534
      Location:26 → 135
      CYCLIN_CCNM_CCNQ_rpt1; first cyclin box found in cyclin-M (CCNM) family
      cd20535
      Location:140 → 243
      CYCLIN_CCNM_CCNQ_rpt2; second cyclin box found in cyclin-M (CCNM) family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      153587925..153599139 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047442631.1 → XP_047298587.1  cyclin-Q isoform X2

    2. XM_011531214.3 → XP_011529516.1  cyclin-Q isoform X1

      See identical proteins and their annotated locations for XP_011529516.1

      Conserved Domains (2) summary
      cd20534
      Location:1 → 93
      CYCLIN_CCNM_CCNQ_rpt1; first cyclin box found in cyclin-M (CCNM) family
      cd20535
      Location:98 → 201
      CYCLIN_CCNM_CCNQ_rpt2; second cyclin box found in cyclin-M (CCNM) family

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      151861560..151872816 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054328108.1 → XP_054184083.1  cyclin-Q isoform X1

    2. XM_054328110.1 → XP_054184085.1  cyclin-Q isoform X2

    3. XM_054328109.1 → XP_054184084.1  cyclin-Q isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N1B3.2 GenPept UniProtKB/Swiss-Prot:Q8N1B3

    Gene LinkOut

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