| Name | KCNQ1 downstream neighbor (non-protein coding) |
| Description | Imprinting is a phenomenon in which epigenetic modifications lead to expression or suppression of alleles of some genes based on their parental origin. Wilms tumor-2 (WT2; MIM 194071) is defined by maternal-specific loss of heterozygosity of a critical region on chromosome 11p15.5 that includes several imprinted genes. KCNQ1DN is an imprinted gene located within the WT2 critical region that is expressed from the maternal allele (Xin et al., 2000 [PubMed 11056398]).[supplied by OMIM, Mar 2008] |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n KCNQ1DN (KCNQ1 downstream neighbor) is a maternally expressed, imprinted gene located within the critical 11p15.5 region. Initial characterization in Wilms’ tumor tissue revealed that loss or significant reduction of KCNQ1DN expression occurs in a substantial fraction of tumors, suggesting that this gene may contribute to tumorigenesis when dysregulated."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " In contrast, imprinting analyses in hereditary gingival fibromatosis indicate that the normal monoallelic (maternal) expression of KCNQ1DN is maintained, implying that its functional perturbation may be context‐specific."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": " Moreover, an epigenome‐wide investigation of placental DNA methylation in relation to prenatal environmental exposures identified KCNQ1DN among several loci with suggestive methylation changes – although these findings were not replicated, they hint at a possible association with developmental or metabolic phenotypes (birth weight, type 2 diabetes, obesity, or steroid hormone signalling)."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " Furthermore, the methylation status of CpG sites within KCNQ1DN has been successfully integrated into epigenetic aging signatures that help predict donor age in forensic applications, supporting the notion that dynamic changes in its methylation state occur across the lifespan."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Z Xin, H Soejima, K Higashimoto, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A novel imprinted gene, KCNQ1DN, within the WT2 critical region of human chromosome 11p15.5 and its reduced expression in Wilms' tumors."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biochem (2000)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/oxfordjournals.jbchem.a022823"}], "href": "https://doi.org/10.1093/oxfordjournals.jbchem.a022823"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11056398"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11056398"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Yufei Zhu, Wenxia Zhang, Zhenghao Huo, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A novel locus for maternally inherited human gingival fibromatosis at chromosome 11p15."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Genet (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00439-006-0283-1"}], "href": "https://doi.org/10.1007/s00439-006-0283-1"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17075716"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17075716"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Nadia Vilahur, Mariona Bustamante, Eva Morales, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Prenatal exposure to mixtures of xenoestrogens and genome-wide DNA methylation in human placenta."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Epigenomics (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.2217/epi.15.91"}], "href": "https://doi.org/10.2217/epi.15.91"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26679211"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26679211"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Carmen M Koch, Wolfgang Wagner "}, {"type": "b", "children": [{"type": "t", "text": "Epigenetic-aging-signature to determine age in different tissues."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Aging (Albany NY) (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.18632/aging.100395"}], "href": "https://doi.org/10.18632/aging.100395"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22067257"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22067257"}]}]}]}
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| Synonyms | BWRT, HSA404617 |
| Proteins | KCQ1D_HUMAN |
| NCBI Gene ID | 55539 |
| 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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KCNQ1DN has 1,341 functional associations with biological entities spanning 7 categories (molecular profile, organism, functional term, phrase or reference, disease, phenotype or trait, chemical, cell line, cell type or tissue, gene, protein or microRNA) extracted from 31 datasets.
Click the + buttons to view associations for KCNQ1DN from the datasets below.
If available, associations are ranked by standardized value
| Dataset | Summary | |
|---|---|---|
| Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles | tissues with high or low expression of KCNQ1DN gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset. | |
| Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray | tissue samples with high or low expression of KCNQ1DN gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset. | |
| Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles | tissues with high or low expression of KCNQ1DN gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset. | |
| BioGPS Cell Line Gene Expression Profiles | cell lines with high or low expression of KCNQ1DN gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset. | |
| BioGPS Human Cell Type and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of KCNQ1DN gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset. | |
| CCLE Cell Line Gene CNV Profiles | cell lines with high or low copy number of KCNQ1DN gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset. | |
| CCLE Cell Line Gene Expression Profiles | cell lines with high or low expression of KCNQ1DN gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset. | |
| ChEA Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of KCNQ1DN gene from the CHEA Transcription Factor Binding Site Profiles dataset. | |
| ChEA Transcription Factor Targets | transcription factors binding the promoter of KCNQ1DN gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset. | |
| ENCODE Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at KCNQ1DN gene from the ENCODE Histone Modification Site Profiles dataset. | |
| ENCODE Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of KCNQ1DN gene from the ENCODE Transcription Factor Binding Site Profiles dataset. | |
| ENCODE Transcription Factor Targets | transcription factors binding the promoter of KCNQ1DN gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset. | |
| GDSC Cell Line Gene Expression Profiles | cell lines with high or low expression of KCNQ1DN gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset. | |
| GeneSigDB Published Gene Signatures | PubMedIDs of publications reporting gene signatures containing KCNQ1DN from the GeneSigDB Published Gene Signatures dataset. | |
| GEO Signatures of Differentially Expressed Genes for Diseases | disease perturbations changing expression of KCNQ1DN gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. | |
| GEO Signatures of Differentially Expressed Genes for Gene Perturbations | gene perturbations changing expression of KCNQ1DN gene from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
| GEO Signatures of Differentially Expressed Genes for Small Molecules | small molecule perturbations changing expression of KCNQ1DN gene from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset. | |
| GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations | transcription factor perturbations changing expression of KCNQ1DN gene from the GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations dataset. | |
| GEO Signatures of Differentially Expressed Genes for Viral Infections | virus perturbations changing expression of KCNQ1DN gene from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset. | |
| GTEx Tissue Gene Expression Profiles | tissues with high or low expression of KCNQ1DN gene relative to other tissues from the GTEx Tissue Gene Expression Profiles dataset. | |
| Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles | cell lines with high or low expression of KCNQ1DN gene relative to other cell lines from the Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles dataset. | |
| JASPAR Predicted Transcription Factor Targets | transcription factors regulating expression of KCNQ1DN gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Transcription Factor Targets dataset. | |
| Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles | cell lines with high or low copy number of KCNQ1DN gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles dataset. | |
| KnockTF Gene Expression Profiles with Transcription Factor Perturbations | transcription factor perturbations changing expression of KCNQ1DN gene from the KnockTF Gene Expression Profiles with Transcription Factor Perturbations dataset. | |
| LINCS L1000 CMAP Chemical Perturbation Consensus Signatures | small molecule perturbations changing expression of KCNQ1DN gene from the LINCS L1000 CMAP Chemical Perturbations Consensus Signatures dataset. | |
| LOCATE Predicted Protein Localization Annotations | cellular components predicted to contain KCNQ1DN protein from the LOCATE Predicted Protein Localization Annotations dataset. | |
| MotifMap Predicted Transcription Factor Targets | transcription factors regulating expression of KCNQ1DN gene predicted using known transcription factor binding site motifs from the MotifMap Predicted Transcription Factor Targets dataset. | |
| MSigDB Signatures of Differentially Expressed Genes for Cancer Gene Perturbations | gene perturbations changing expression of KCNQ1DN gene from the MSigDB Signatures of Differentially Expressed Genes for Cancer Gene Perturbations dataset. | |
| Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles | cell types and tissues with high or low DNA methylation of KCNQ1DN gene relative to other cell types and tissues from the Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles dataset. | |
| Roadmap Epigenomics Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at KCNQ1DN gene from the Roadmap Epigenomics Histone Modification Site Profiles dataset. | |
| TCGA Signatures of Differentially Expressed Genes for Tumors | tissue samples with high or low expression of KCNQ1DN gene relative to other tissue samples from the TCGA Signatures of Differentially Expressed Genes for Tumors dataset. | |
