| Name | chromosome 20 open reading frame 187 |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Although none of the abstracts provide a direct biochemical or cellular characterization of C20orf187, collective evidence from large‐scale genomic analyses implicates the locus in pathways related to complex traits. In one study employing droplet digital PCR to quantify copy number variations (CNVs), genomic regions previously flagged by genome‐wide association studies (GWAS) for blood pressure variation were examined, suggesting that loci in these regions—including those that might encompass or interact with less‐characterized genes like C20orf187—could influence essential hypertension."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Further, multiple GWAS investigations into human longevity and lifespan have identified several genetic loci that modulate lifespan, with some signals potentially mapping to genomic regions that include C20orf187."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "2", "end_ref": "4"}]}, {"type": "t", "text": " Although these studies do not isolate the gene’s function, their findings hint that C20orf187 may be part of a network of genes that modestly contribute to healthy ageing and the regulation of cardiovascular risk factors.\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In a separate investigation into bladder cancer susceptibility, systematic meta‐analyses of genetic polymorphisms pointed to roles for genes in chemical carcinogenesis, DNA repair, and cell cycle control."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": " While C20orf187 was not among the strongest candidates in this context, its incidental involvement via genomic regions associated with multiple disease phenotypes raises the possibility that it might have broader regulatory or modulatory functions.\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In summary, although the precise mechanistic role of C20orf187 remains to be elucidated, the collective genetic associations suggest that it is a candidate locus for influencing blood pressure regulation and longevity. Its identification in diverse genomic studies underscores the need for follow‐up functional work to clarify whether C20orf187 contributes directly to disease processes or age‐related phenotypes, either through regulatory effects or through interaction with established pathways.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Francine Z Marques, Priscilla R Prestes, Leonardo B Pinheiro, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Measurement of absolute copy number variation reveals association with essential hypertension."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Med Genomics (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/1755-8794-7-44"}], "href": "https://doi.org/10.1186/1755-8794-7-44"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25027169"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25027169"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Luke C Pilling, Chia-Ling Kuo, Kamil Sicinski, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Human longevity: 25 genetic loci associated in 389,166 UK biobank participants."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Aging (Albany NY) (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.18632/aging.101334"}], "href": "https://doi.org/10.18632/aging.101334"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29227965"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29227965"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Paul Rhj Timmers, Ninon Mounier, Kristi Lall, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genomics of 1 million parent lifespans implicates novel pathways and common diseases and distinguishes survival chances."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Elife (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.7554/eLife.39856"}], "href": "https://doi.org/10.7554/eLife.39856"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30642433"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30642433"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Kevin M Wright, Kristin A Rand, Amir Kermany, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A Prospective Analysis of Genetic Variants Associated with Human Lifespan."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "G3 (Bethesda) (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1534/g3.119.400448"}], "href": "https://doi.org/10.1534/g3.119.400448"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31484785"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31484785"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Evangelina López de Maturana, Marta Rava, Chiaka Anumudu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Bladder Cancer Genetic Susceptibility. A Systematic Review."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Bladder Cancer (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3233/BLC-170159"}], "href": "https://doi.org/10.3233/BLC-170159"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29732392"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29732392"}]}]}]}
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| Synonyms | DJ727I10.1, C20orf187 |
| Proteins | CT187_HUMAN |
| NCBI Gene ID | 728434 |
| 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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C20ORF187 has 29 functional associations with biological entities spanning 5 categories (disease, phenotype or trait, chemical, functional term, phrase or reference, cell line, cell type or tissue, gene, protein or microRNA) extracted from 6 datasets.
Click the + buttons to view associations for C20ORF187 from the datasets below.
If available, associations are ranked by standardized value
| Dataset | Summary | |
|---|---|---|
| BioGPS Human Cell Type and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of C20ORF187 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset. | |
| GEO Signatures of Differentially Expressed Genes for Diseases | disease perturbations changing expression of C20ORF187 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 C20ORF187 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 C20ORF187 gene from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset. | |
| GTEx Tissue Gene Expression Profiles | tissues with high or low expression of C20ORF187 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles dataset. | |
| LOCATE Predicted Protein Localization Annotations | cellular components predicted to contain C20ORF187 protein from the LOCATE Predicted Protein Localization Annotations dataset. | |