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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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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
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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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