| Name | chromosome 6 open reading frame 52 |
| Description | Predicted to enable tRNA binding activity. Predicted to be involved in selenocysteine incorporation. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025] |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Recent integrative genomics and systems genetics studies have greatly advanced our understanding of complex diseases—including retinitis pigmentosa, metabolic syndrome, and even cancer—by identifying novel candidate genes and regulatory elements."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "8"}]}, {"type": "t", "text": " In this context, the locus LOC618944—predicted to be similar to the human gene C6orf52—was examined in cattle to refine its gene model, characterize its mRNA splice variants, and analyze its tissue-specific expression."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "9"}]}, {"type": "t", "text": " The study revealed that all transcript variants detected in fat, mammary gland, and skeletal muscle tissues are noncoding RNAs. Although a specific function for C6orf52 has yet to be defined, the expression pattern and alternative splicing of its transcripts indicate that it may play a regulatory role in pathways governing energy utilization and fat metabolism in cattle. These insights suggest that C6orf52—via its noncoding RNA isoforms—could contribute to the regulation of metabolic traits such as intramuscular fat deposition and overall energy homeostasis.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Mai M Abd El-Aziz, Isabel Barragan, Ciara A O'Driscoll, et al. "}, {"type": "b", "children": [{"type": "t", "text": "EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.241"}], "href": "https://doi.org/10.1038/ng.241"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18836446"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18836446"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Jinyi Xing, Feng Xing, Chenhua Zhang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genome-wide gene expression profiles in lung tissues of pig breeds differing in resistance to porcine reproductive and respiratory syndrome virus."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0086101"}], "href": "https://doi.org/10.1371/journal.pone.0086101"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24465897"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24465897"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Man Chun John Ma, Santosh S Atanur, Timothy J Aitman, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genomic structure of nucleotide diversity among Lyon rat models of metabolic syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Genomics (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/1471-2164-15-197"}], "href": "https://doi.org/10.1186/1471-2164-15-197"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24628878"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24628878"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Jinkai Wang, Man Chun John Ma, Amanda K Mennie, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Systems biology with high-throughput sequencing reveals genetic mechanisms underlying the metabolic syndrome in the Lyon hypertensive rat."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Circ Cardiovasc Genet (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1161/CIRCGENETICS.114.000520"}], "href": "https://doi.org/10.1161/CIRCGENETICS.114.000520"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25573024"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25573024"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Aida Moreno-Moral, Enrico Petretto "}, {"type": "b", "children": [{"type": "t", "text": "From integrative genomics to systems genetics in the rat to link genotypes to phenotypes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Dis Model Mech (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1242/dmm.026104"}], "href": "https://doi.org/10.1242/dmm.026104"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27736746"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27736746"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "David Martín-Gálvez, Denis Dunoyer de Segonzac, Man Chun John Ma, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genome variation and conserved regulation identify genomic regions responsible for strain specific phenotypes in rat."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Genomics (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s12864-017-4351-9"}], "href": "https://doi.org/10.1186/s12864-017-4351-9"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29272997"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29272997"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Ryu Miura, Atsuko Araki, Machiko Minatoya, et al. "}, {"type": "b", "children": [{"type": "t", "text": "An epigenome-wide analysis of cord blood DNA methylation reveals sex-specific effect of exposure to bisphenol A."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Sci Rep (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41598-019-48916-5"}], "href": "https://doi.org/10.1038/s41598-019-48916-5"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31451752"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31451752"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Jinling Bi, Yong Huang, Yulong Liu "}, {"type": "b", "children": [{"type": "t", "text": "Effect of NOP2 knockdown on colon cancer cell proliferation, migration, and invasion."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Transl Cancer Res (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.21037/tcr.2019.09.46"}], "href": "https://doi.org/10.21037/tcr.2019.09.46"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35116980"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35116980"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Annett Eberlein, Claudia Kalbe, Tom Goldammer, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Annotation of novel transcripts putatively relevant for bovine fat metabolism."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Biol Rep (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s11033-010-9962-z"}], "href": "https://doi.org/10.1007/s11033-010-9962-z"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20127178"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20127178"}]}]}]}
|
| Synonyms | C6orf52 |
| Proteins | CF052_HUMAN |
| NCBI Gene ID | 347744 |
| API | |
| Download Associations | |
| Predicted Functions |
 |
| Co-expressed Genes |
|
| Expression in Tissues and Cell Lines |
|
C6ORF52 has 3,074 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 54 datasets.
Click the + buttons to view associations for C6ORF52 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 C6ORF52 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset. | |
| Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of C6ORF52 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset. | |
| Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq | tissue samples with high or low expression of C6ORF52 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset. | |
| Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles | tissues with high or low expression of C6ORF52 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset. | |
| CCLE Cell Line Gene CNV Profiles | cell lines with high or low copy number of C6ORF52 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 C6ORF52 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset. | |
| CellMarker Gene-Cell Type Associations | cell types associated with C6ORF52 gene from the CellMarker Gene-Cell Type Associations dataset. | |
| ChEA Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of C6ORF52 gene from the CHEA Transcription Factor Binding Site Profiles dataset. | |
| ChEA Transcription Factor Targets | transcription factors binding the promoter of C6ORF52 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset. | |
| CM4AI KOLF21J CRISPRi Gene Perturbation Atlas | gene perturbations changing expression of C6ORF52 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset. | |
| COMPARTMENTS Experimental Protein Localization Evidence Scores | cellular components containing C6ORF52 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset. | |
| COSMIC Cell Line Gene CNV Profiles | cell lines with high or low copy number of C6ORF52 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset. | |
| CTD Gene-Disease Associations | diseases associated with C6ORF52 gene/protein from the curated CTD Gene-Disease Associations dataset. | |
| DepMap CRISPR Gene Dependency | cell lines with fitness changed by C6ORF52 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset. | |
| DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 | diseases co-occuring with C6ORF52 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. | |
| ENCODE Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at C6ORF52 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 C6ORF52 gene from the ENCODE Transcription Factor Binding Site Profiles dataset. | |
| ENCODE Transcription Factor Targets | transcription factors binding the promoter of C6ORF52 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset. | |
| GeneSigDB Published Gene Signatures | PubMedIDs of publications reporting gene signatures containing C6ORF52 from the GeneSigDB Published Gene Signatures dataset. | |
| GEO Signatures of Differentially Expressed Genes for Diseases | disease perturbations changing expression of C6ORF52 gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. | |
| GEO Signatures of Differentially Expressed Genes for Kinase Perturbations | kinase perturbations changing expression of C6ORF52 gene from the GEO Signatures of Differentially Expressed Genes for Kinase Perturbations dataset. | |
| GEO Signatures of Differentially Expressed Genes for Small Molecules | small molecule perturbations changing expression of C6ORF52 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 C6ORF52 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 C6ORF52 gene from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset. | |
| GO Biological Process Annotations 2023 | biological processes involving C6ORF52 gene from the curated GO Biological Process Annotations 2023 dataset. | |
| GO Cellular Component Annotations 2023 | cellular components containing C6ORF52 protein from the curated GO Cellular Component Annotations 2023 dataset. | |
| GO Molecular Function Annotations 2023 | molecular functions performed by C6ORF52 gene from the curated GO Molecular Function Annotations 2023 dataset. | |
| GTEx Tissue Gene Expression Profiles | tissues with high or low expression of C6ORF52 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles dataset. | |
| GTEx Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of C6ORF52 gene relative to other tissue samples from the GTEx Tissue Sample Gene Expression Profiles dataset. | |
| GWASdb SNP-Disease Associations | diseases associated with C6ORF52 gene in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. | |
| GWASdb SNP-Phenotype Associations | phenotypes associated with C6ORF52 gene in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. | |
| HPA Cell Line Gene Expression Profiles | cell lines with high or low expression of C6ORF52 gene relative to other cell lines from the HPA Cell Line Gene Expression Profiles dataset. | |
| HPA Tissue Gene Expression Profiles | tissues with high or low expression of C6ORF52 gene relative to other tissues from the HPA Tissue Gene Expression Profiles dataset. | |
| HPA Tissue Protein Expression Profiles | tissues with high or low expression of C6ORF52 protein relative to other tissues from the HPA Tissue Protein Expression Profiles dataset. | |
| HPA Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of C6ORF52 gene relative to other tissue samples from the HPA Tissue Sample Gene Expression Profiles dataset. | |
| JASPAR Predicted Transcription Factor Targets | transcription factors regulating expression of C6ORF52 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 C6ORF52 gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles dataset. | |
| Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles | cell lines with high or low expression of C6ORF52 gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles dataset. | |
| Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles | cell lines with C6ORF52 gene mutations from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles dataset. | |
| KnockTF Gene Expression Profiles with Transcription Factor Perturbations | transcription factor perturbations changing expression of C6ORF52 gene from the KnockTF Gene Expression Profiles with Transcription Factor Perturbations dataset. | |
| LOCATE Predicted Protein Localization Annotations | cellular components predicted to contain C6ORF52 protein from the LOCATE Predicted Protein Localization Annotations dataset. | |
| MotifMap Predicted Transcription Factor Targets | transcription factors regulating expression of C6ORF52 gene predicted using known transcription factor binding site motifs from the MotifMap Predicted Transcription Factor Targets dataset. | |
| NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles | drug perturbations changing expression of C6ORF52 gene from the NIBR DRUG-seq U2OS MoA Box dataset. | |
| PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations | gene perturbations changing expression of C6ORF52 gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
| Replogle et al., Cell, 2022 K562 Essential Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of C6ORF52 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 C6ORF52 gene from the Replogle et al., Cell, 2022 K562 Genome-wide Perturb-seq Gene Perturbation Signatures dataset. | |
| Roadmap Epigenomics Cell and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of C6ORF52 gene relative to other cell types and tissues from the Roadmap Epigenomics Cell and Tissue Gene Expression Profiles dataset. | |
| Roadmap Epigenomics Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at C6ORF52 gene from the Roadmap Epigenomics Histone Modification Site Profiles dataset. | |
| Rummagene Transcription Factor Associations 2026 | transcription factors regulating expression of C6ORF52 gene from the Rummagene Transcription Factor Associations 2026 dataset. | |
| RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of C6ORF52 gene from the RummaGEO Drug Perturbation Signatures dataset. | |
| RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of C6ORF52 gene from the RummaGEO Gene Perturbation Signatures dataset. | |
| TargetScan Predicted Nonconserved microRNA Targets | microRNAs regulating expression of C6ORF52 gene predicted using nonconserved miRNA seed sequences from the TargetScan Predicted Nonconserved microRNA Targets dataset. | |
| TCGA Signatures of Differentially Expressed Genes for Tumors | tissue samples with high or low expression of C6ORF52 gene relative to other tissue samples from the TCGA Signatures of Differentially Expressed Genes for Tumors dataset. | |
| TISSUES Text-mining Tissue Protein Expression Evidence Scores | tissues co-occuring with C6ORF52 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. | |
