Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CCNQ Gene

Aliases for CCNQ Gene

  • Cyclin Q 2 3
  • Family With Sequence Similarity 58 Member A 2 3 5
  • FAM58A 3 4 5
  • CDK10-Activating Cyclin 3 4
  • Family With Sequence Similarity 58, Member A 2
  • Cyclin-Related Protein FAM58A 3
  • Cyclin M 3
  • Cyclin-M 4
  • STAR 3

External Ids for CCNQ Gene

Previous HGNC Symbols for CCNQ Gene

  • FAM58A

Summaries for CCNQ Gene

Entrez Gene Summary for CCNQ Gene

  • 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]

GeneCards Summary for CCNQ Gene

CCNQ (Cyclin Q) is a Protein Coding gene. Diseases associated with CCNQ include Star Syndrome. An important paralog of this gene is CCNL1.

UniProtKB/Swiss-Prot for CCNQ Gene

  • Activating cyclin for the cyclin-associated kinase CDK10.

Additional gene information for CCNQ Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CCNQ Gene

Genomics for CCNQ Gene

Regulatory Elements for CCNQ Gene

Enhancers for CCNQ Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XH153582 0.8 Ensembl ENCODE 5.5 +17.0 17023 0 POLR2A TARDBP ELF1 RELA KRT18P48 CCNQ GC0XP153580 LOC105373383
GH0XH153598 0.9 ENCODE 0.7 +0.4 422 2 SIN3A ZNF121 GLIS2 ZNF143 SP3 REST ZNF610 ZSCAN16 GLIS1 CTCF KRT18P48 LOC105373383 CETN2 CCNQ
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CCNQ on UCSC Golden Path with GeneCards custom track

Promoters for CCNQ Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000249566 745 2201 RB1 ZNF76 KLF17 SIN3A ZBTB40 THRB ZNF121 ZNF23 GLIS2 EGR1

Genomic Location for CCNQ Gene

Chromosome:
X
Start:
153,587,919 bp from pter
End:
153,600,045 bp from pter
Size:
12,127 bases
Orientation:
Minus strand

Genomic View for CCNQ Gene

Genes around CCNQ on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCNQ Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCNQ Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCNQ Gene

Proteins for CCNQ Gene

  • Protein details for CCNQ Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N1B3-FA58A_HUMAN
    Recommended name:
    Cyclin-related protein FAM58A
    Protein Accession:
    Q8N1B3
    Secondary Accessions:
    • Q2I380
    • Q330J9
    • Q96IU5
    • Q9BUU1

    Protein attributes for CCNQ Gene

    Size:
    248 amino acids
    Molecular mass:
    28369 Da
    Quaternary structure:
    • Associates with CDK10 to promote its kinase activity. Interacts with SALL1.
    Miscellaneous:
    • Silencing with siRNAs phenocopies CDK10 silencing in increasing c-Raf and in conferring tamoxifen resistance to breast cancer cells.
    SequenceCaution:
    • Sequence=AAH01909.4; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH07232.4; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH32121.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH71851.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for CCNQ Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CCNQ Gene

Post-translational modifications for CCNQ Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CCNQ Gene

Domains & Families for CCNQ Gene

Gene Families for CCNQ Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for CCNQ Gene

Suggested Antigen Peptide Sequences for CCNQ Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N1B3

UniProtKB/Swiss-Prot:

FA58A_HUMAN :
  • Belongs to the cyclin family. Cyclin-like FAM58 subfamily.
Family:
  • Belongs to the cyclin family. Cyclin-like FAM58 subfamily.
genes like me logo Genes that share domains with CCNQ: view

Function for CCNQ Gene

Molecular function for CCNQ Gene

UniProtKB/Swiss-Prot Function:
Activating cyclin for the cyclin-associated kinase CDK10.

Phenotypes From GWAS Catalog for CCNQ Gene

Gene Ontology (GO) - Molecular Function for CCNQ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 18297069
GO:0016538 cyclin-dependent protein serine/threonine kinase regulator activity IBA --
GO:0030295 protein kinase activator activity IEA --
genes like me logo Genes that share ontologies with CCNQ: view

Phenotypes for CCNQ Gene

genes like me logo Genes that share phenotypes with CCNQ: view

Human Phenotype Ontology for CCNQ Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CCNQ Gene

MGI Knock Outs for CCNQ:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CCNQ
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CCNQ Gene

Localization for CCNQ Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CCNQ gene
Compartment Confidence
nucleus 4
cytosol 3
plasma membrane 1
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CCNQ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000307 cyclin-dependent protein kinase holoenzyme complex IBA --
GO:0005634 nucleus IBA --
genes like me logo Genes that share ontologies with CCNQ: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for CCNQ Gene

Pathways & Interactions for CCNQ Gene

No Data Available

Interacting Proteins for CCNQ Gene

Gene Ontology (GO) - Biological Process for CCNQ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032147 activation of protein kinase activity IEA --
GO:0043410 positive regulation of MAPK cascade IEA --
GO:0045737 positive regulation of cyclin-dependent protein serine/threonine kinase activity IBA --
GO:0045944 positive regulation of transcription from RNA polymerase II promoter IBA --
GO:1901409 positive regulation of phosphorylation of RNA polymerase II C-terminal domain IBA --
genes like me logo Genes that share ontologies with CCNQ: view

No data available for Pathways by source and SIGNOR curated interactions for CCNQ Gene

Drugs & Compounds for CCNQ Gene

No Compound Related Data Available

Transcripts for CCNQ Gene

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CCNQ
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for CCNQ Gene

No ASD Table

Relevant External Links for CCNQ Gene

GeneLoc Exon Structure for
CCNQ
ECgene alternative splicing isoforms for
CCNQ

Expression for CCNQ Gene

NURSA nuclear receptor signaling pathways regulating expression of CCNQ Gene:

CCNQ

Evidence on tissue expression from TISSUES for CCNQ Gene

  • Kidney(4.3)
  • Lung(4.1)
  • Blood(4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CCNQ Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
  • reproductive
  • skeleton
  • urinary
Organs:
Head and neck:
  • ear
  • eye
  • eyelid
  • face
  • head
  • lip
  • nose
  • outer ear
  • skull
Thorax:
  • heart
  • heart valve
Abdomen:
  • kidney
Pelvis:
  • ovary
  • penis
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
  • vagina
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • hair
  • skin
No Expression Related Data Available

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for CCNQ Gene

Orthologs for CCNQ Gene

This gene was present in the common ancestor of animals.

Orthologs for CCNQ Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM58A 33
  • 99.69 (n)
dog
(Canis familiaris)
Mammalia FAM58A 33
  • 90.52 (n)
cow
(Bos Taurus)
Mammalia FAM58A 33
  • 86.86 (n)
mouse
(Mus musculus)
Mammalia Fam58b 33 16
  • 86.64 (n)
rat
(Rattus norvegicus)
Mammalia Fam58b 33
  • 85.2 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia fam58a 33
  • 68.3 (n)
Str.6402 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.32944 33
zebrafish
(Danio rerio)
Actinopterygii fam58a 33
  • 64.7 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13923 33
fruit fly
(Drosophila melanogaster)
Insecta koko 33
  • 54.09 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005056 33
  • 51.15 (n)
Species where no ortholog for CCNQ was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CCNQ Gene

ENSEMBL:
Gene Tree for CCNQ (if available)
TreeFam:
Gene Tree for CCNQ (if available)

Paralogs for CCNQ Gene

Paralogs for CCNQ Gene

Pseudogenes.org Pseudogenes for CCNQ Gene

genes like me logo Genes that share paralogs with CCNQ: view

Variants for CCNQ Gene

Sequence variations from dbSNP and Humsavar for CCNQ Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs1000138222 -- 153,600,725(+) ACAGG(C/T)CCTGC upstream-variant-2KB
rs1000479562 -- 153,601,016(+) TGTGC(A/C/G)TGTGT upstream-variant-2KB
rs1000863489 -- 153,587,636(+) TCTTA(C/T)CCACT downstream-variant-500B
rs1000877975 -- 153,594,834(+) AAAAA(C/T)TCTTC intron-variant
rs1001551198 -- 153,591,789(+) CACCC(A/G)CTTTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CCNQ Gene

Variant ID Type Subtype PubMed ID
esv33199 CNV gain+loss 17666407

Variation tolerance for CCNQ Gene

Gene Damage Index Score: 0.53; 11.41% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CCNQ Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCNQ

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCNQ Gene

Disorders for CCNQ Gene

MalaCards: The human disease database

(1) MalaCards diseases for CCNQ Gene - From: ClinVar, GeneTests, Orphanet, and GeneCards

Disorder Aliases PubMed IDs
star syndrome
  • syndactyly, telecanthus, anogenital and renal malformations
- elite association - COSMIC cancer census association via MalaCards
Search CCNQ in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FA58A_HUMAN
  • Toe syndactyly, telecanthus, and anogenital and renal malformations (STAR) [MIM:300707]: A syndrome characterized by anal, genital and renal tract anomalies, facial dysmorphism and syndactyly. Features include anal stenosis, a rectovaginal fistula, clitoral hypertrophy, a pelvic right kidney, toe syndactyly, and telecanthus. {ECO:0000269 PubMed:18297069}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CCNQ

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CCNQ
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CCNQ
genes like me logo Genes that share disorders with CCNQ: view

No data available for Genatlas for CCNQ Gene

Publications for CCNQ Gene

  1. CDK10/cyclin M is a protein kinase that controls ETS2 degradation and is deficient in STAR syndrome. (PMID: 24218572) Guen VJ … Colas P (Proceedings of the National Academy of Sciences of the United States of America 2013) 2 3 4 60
  2. Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations. (PMID: 18297069) Unger S … Kohlhase J (Nature genetics 2008) 2 3 4 60
  3. STAR syndrome-associated CDK10/Cyclin M regulates actin network architecture and ciliogenesis. (PMID: 27104747) Guen VJ … Colas P (Cell cycle (Georgetown, Tex.) 2016) 2 3 60
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  5. Multigenerational pedigree with STAR syndrome: A novel FAM58A variant and expansion of the phenotype. (PMID: 28322501) Boczek NJ … Lanpher BC (American journal of medical genetics. Part A 2017) 3 60

Products for CCNQ Gene

Sources for CCNQ Gene

Content
Loading form....