| Name | cyclin Q |
| Description | 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] |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Cyclin M family proteins (commonly referred to as CNNMs) are evolutionarily conserved membrane transporters that play a central role in regulating intracellular and systemic magnesium (Mg²⁺) homeostasis. These proteins are highly expressed in epithelial tissues—including the intestine, kidney, and ameloblasts—where they mediate Mg²⁺ extrusion or re‐absorption via mechanisms that often involve the exchange of Mg²⁺ with Na⁺ and require specialized regulatory domains. For instance, CNNM4 localizes to the basolateral membrane of intestinal epithelia and ameloblasts, and its activity is essential for proper Mg²⁺ extrusion; loss of CNNM4 function leads to hypomagnesemia and developmental defects such as amelogenesis imperfecta, as demonstrated in knockout mouse models."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n A key feature of CNNM proteins is the presence of conserved cystathionine‐β‐synthase (CBS) domains that directly bind ATP in a Mg²⁺‐dependent manner. This interaction is critical for promoting fast Mg²⁺ efflux, as deletion or mutation of these domains abolishes transport activity."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n In the kidney, CNNM2 is expressed on the basolateral membranes of distal convoluted tubule cells and is essential for maintaining normal serum Mg²⁺ levels. Alterations in CNNM2 function have been linked not only to hypomagnesemia but also to secondary effects such as decreased blood pressure, highlighting its physiological significance in ion‐homeostasis and cardiovascular regulation."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Moreover, CNNMs interact with regulatory phosphatases such as members of the phosphatases of regenerating liver (PRLs). Binding of PRLs to CNNMs can modulate intracellular Mg²⁺ levels, and this interaction has been implicated in promoting oncogenic transformation and cancer cell proliferation."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Importantly, the evolutionary conservation of these Mg²⁺ transporters extends to prokaryotes, where orthologs (such as CorC) contribute to maintaining the internal bacterial concentration of Mg²⁺—a function that underscores the fundamental requirement of Mg²⁺ in cellular physiology."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Together, these studies demonstrate that CNNM proteins are pivotal for regional Mg²⁺ transport and systemic electrolyte balance, with significant implications for human developmental disorders, metabolic diseases, and cancer. \n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Daisuke Yamazaki, Yosuke Funato, Jiro Miura, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Basolateral Mg2+ extrusion via CNNM4 mediates transcellular Mg2+ transport across epithelia: a mouse model."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS Genet (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pgen.1003983"}], "href": "https://doi.org/10.1371/journal.pgen.1003983"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24339795"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24339795"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Yusuke Hirata, Yosuke Funato, Yu Takano, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mg2+-dependent interactions of ATP with the cystathionine-β-synthase (CBS) domains of a magnesium transporter."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M114.551176"}], "href": "https://doi.org/10.1074/jbc.M114.551176"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24706765"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24706765"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Yosuke Funato, Daisuke Yamazaki, Hiroaki Miki "}, {"type": "b", "children": [{"type": "t", "text": "Renal function of cyclin M2 Mg2+ transporter maintains blood pressure."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Hypertens (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1097/HJH.0000000000001211"}], "href": "https://doi.org/10.1097/HJH.0000000000001211"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28033128"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28033128"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Yosuke Funato, Hiroaki Miki "}, {"type": "b", "children": [{"type": "t", "text": "Molecular function and biological importance of CNNM family Mg2+ transporters."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biochem (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/jb/mvy095"}], "href": "https://doi.org/10.1093/jb/mvy095"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30476181"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30476181"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Joshua Armitano, Peter Redder, Vanessa A Guimarães, et al. "}, {"type": "b", "children": [{"type": "t", "text": "An Essential Factor for High Mg"}, {"type": "a", "children": [{"type": "t", "text": "sup"}], "href": "sup"}, {"type": "t", "text": "2+"}, {"type": "a", "children": [{"type": "t", "text": "/sup"}], "href": "/sup"}, {"type": "t", "text": " Tolerance of "}, {"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "Staphylococcus aureus"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": "."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Front Microbiol (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3389/fmicb.2016.01888"}], "href": "https://doi.org/10.3389/fmicb.2016.01888"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27933050"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27933050"}]}]}]}
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| NCBI Gene ID | 92002 |
| API | |
| Download Associations | |
| Predicted Functions |
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| Co-expressed Genes |
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| Expression in Tissues and Cell Lines |
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CCNQ has 860 functional associations with biological entities spanning 5 categories (disease, phenotype or trait, functional term, phrase or reference, chemical, cell line, cell type or tissue, gene, protein or microRNA) extracted from 26 datasets.
Click the + buttons to view associations for CCNQ from the datasets below.
If available, associations are ranked by standardized value
| Dataset | Summary | |
|---|---|---|
| Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of CCNQ gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset. | |
| ChEA Transcription Factor Targets 2022 | transcription factors binding the promoter of CCNQ gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset. | |
| ClinVar Gene-Phenotype Associations 2025 | phenotypes associated with CCNQ gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset. | |
| COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 | cellular components co-occuring with CCNQ protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. | |
| DeepCoverMOA Drug Mechanisms of Action | small molecule perturbations with high or low expression of CCNQ protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset. | |
| DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 | diseases co-occuring with CCNQ gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. | |
| GO Biological Process Annotations 2023 | biological processes involving CCNQ gene from the curated GO Biological Process Annotations 2023 dataset. | |
| GO Biological Process Annotations 2025 | biological processes involving CCNQ gene from the curated GO Biological Process Annotations2025 dataset. | |
| GO Cellular Component Annotations 2023 | cellular components containing CCNQ protein from the curated GO Cellular Component Annotations 2023 dataset. | |
| GO Cellular Component Annotations 2025 | cellular components containing CCNQ protein from the curated GO Cellular Component Annotations 2025 dataset. | |
| GO Molecular Function Annotations 2023 | molecular functions performed by CCNQ gene from the curated GO Molecular Function Annotations 2023 dataset. | |
| GO Molecular Function Annotations 2025 | molecular functions performed by CCNQ gene from the curated GO Molecular Function Annotations 2025 dataset. | |
| GTEx Tissue Gene Expression Profiles 2023 | tissues with high or low expression of CCNQ gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset. | |
| GWAS Catalog SNP-Phenotype Associations 2025 | phenotypes associated with CCNQ gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. | |
| IMPC Knockout Mouse Phenotypes | phenotypes of mice caused by CCNQ gene knockout from the IMPC Knockout Mouse Phenotypes dataset. | |
| JASPAR Predicted Human Transcription Factor Targets 2025 | transcription factors regulating expression of CCNQ gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Human Transcription Factor Targets dataset. | |
| JASPAR Predicted Mouse Transcription Factor Targets 2025 | transcription factors regulating expression of CCNQ gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset. | |
| MGI Mouse Phenotype Associations 2023 | phenotypes of transgenic mice caused by CCNQ gene mutations from the MGI Mouse Phenotype Associations 2023 dataset. | |
| NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles | drug perturbations changing expression of CCNQ gene from the NIBR DRUG-seq U2OS MoA Box dataset. | |
| Replogle et al., Cell, 2022 K562 Essential Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of CCNQ gene from the Replogle et al., Cell, 2022 K562 Essential Perturb-seq Gene Perturbation Signatures dataset. | |
| Replogle et al., Cell, 2022 K562 Genome-wide Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of CCNQ gene from the Replogle et al., Cell, 2022 K562 Genome-wide Perturb-seq Gene Perturbation Signatures dataset. | |
| RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of CCNQ gene from the RummaGEO Drug Perturbation Signatures dataset. | |
| RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of CCNQ gene from the RummaGEO Gene Perturbation Signatures dataset. | |
| TISSUES Curated Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of CCNQ protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset. | |
| TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 | tissues co-occuring with CCNQ protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. | |
| WikiPathways Pathways 2024 | pathways involving CCNQ protein from the WikiPathways Pathways 2024 dataset. | |
