| Name | chromosome 2 open reading frame 74 |
| Description | Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025] |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n C2orf74 is a largely uncharacterized gene that has emerged as a potential contributor in diverse disease contexts. A damaging missense variant in C2orf74 was identified in a family with Waardenburg syndrome type 2, where it appeared to act in concert with a pathogenic MITF variant in a digenic inheritance pattern with incomplete penetrance."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " Altered expression of C2orf74 has also been observed in celiac disease, where its dysregulation alongside other immune‐related genes suggests a role in the intestinal immune response."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": " In addition, genetic association studies have implicated variants in C2orf74 with susceptibility to ankylosing spondylitis, pointing to possible involvement in inflammatory processes."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " Furthermore, a read‐through transcript encompassing C2orf74 was found to be significantly down‐regulated in lung adenocarcinoma compared to normal lung tissue, indicating that chimeric transcripts including this gene might exert tumor suppressive functions."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": " Epigenetic analyses in breast cancer have predicted C2orf74 as part of a miRNA–mRNA regulatory axis, further hinting at its involvement in tumor biology."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": " Finally, eQTL screening in thymic tissue has associated autoimmune disease risk variants with the regulation of C2orf74, suggesting a potential role in immune regulation."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Together, these findings support the notion that C2orf74 may be a multifaceted gene involved in developmental pathways, immune responses, and potentially tumor suppression. Further research is needed to elucidate its precise biological function and the mechanisms by which its dysregulation contributes to disease.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Maan Abdullah Albarry, Muhammad Latif, Ahdab Qasem Alreheli, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Frameshift variant in MITF gene in a large family with Waardenburg syndrome type II and a co-segregation of a C2orf74 variant."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0246607"}], "href": "https://doi.org/10.1371/journal.pone.0246607"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33571247"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33571247"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "V Pascual, L M Medrano, N López-Palacios, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Different Gene Expression Signatures in Children and Adults with Celiac Disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0146276"}], "href": "https://doi.org/10.1371/journal.pone.0146276"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26859134"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26859134"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Mengmeng Wang, Lihong Xin, Guoqi Cai, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Pathogenic variants screening in seventeen candidate genes on 2p15 for association with ankylosing spondylitis in a Han Chinese population."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0177080"}], "href": "https://doi.org/10.1371/journal.pone.0177080"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28493913"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28493913"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Giulia Pintarelli, Alice Dassano, Chiara E Cotroneo, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Read-through transcripts in normal human lung parenchyma are down-regulated in lung adenocarcinoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Oncotarget (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.18632/oncotarget.8556"}], "href": "https://doi.org/10.18632/oncotarget.8556"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27058892"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27058892"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Aneesh Kotipalli, Ruma Banerjee, Sunitha Manjari Kasibhatla, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Analysis of H3K4me3-ChIP-Seq and RNA-Seq data to understand the putative role of miRNAs and their target genes in breast cancer cell lines."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genomics Inform (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.5808/gi.21020"}], "href": "https://doi.org/10.5808/gi.21020"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34261302"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34261302"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Ingvild S M Gabrielsen, Silja Svanstrøm Amundsen, Hanna Helgeland, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genetic risk variants for autoimmune diseases that influence gene expression in thymus."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddw152"}], "href": "https://doi.org/10.1093/hmg/ddw152"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27199374"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27199374"}]}]}]}
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| Synonyms | C2orf74 |
| Proteins | CB074_HUMAN |
| NCBI Gene ID | 339804 |
| 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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C2ORF74 has 2,215 functional associations with biological entities spanning 9 categories (molecular profile, organism, functional term, phrase or reference, disease, phenotype or trait, chemical, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 58 datasets.
Click the + buttons to view associations for C2ORF74 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 C2ORF74 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 C2ORF74 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 C2ORF74 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 C2ORF74 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset. | |
| BioGPS Mouse Cell Type and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of C2ORF74 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset. | |
| CCLE Cell Line Gene CNV Profiles | cell lines with high or low copy number of C2ORF74 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 C2ORF74 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset. | |
| CellMarker Gene-Cell Type Associations | cell types associated with C2ORF74 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 C2ORF74 gene from the CHEA Transcription Factor Binding Site Profiles dataset. | |
| ChEA Transcription Factor Targets | transcription factors binding the promoter of C2ORF74 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores | cellular components containing C2ORF74 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. | |
| COMPARTMENTS Experimental Protein Localization Evidence Scores | cellular components containing C2ORF74 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 C2ORF74 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset. | |
| DISEASES Experimental Gene-Disease Association Evidence Scores 2025 | diseases associated with C2ORF74 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset. | |
| DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 | diseases co-occuring with C2ORF74 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. | |
| DisGeNET Gene-Disease Associations | diseases associated with C2ORF74 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. | |
| ENCODE Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at C2ORF74 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 C2ORF74 gene from the ENCODE Transcription Factor Binding Site Profiles dataset. | |
| ENCODE Transcription Factor Targets | transcription factors binding the promoter of C2ORF74 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset. | |
| ESCAPE Omics Signatures of Genes and Proteins for Stem Cells | PubMedIDs of publications reporting gene signatures containing C2ORF74 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset. | |
| GeneSigDB Published Gene Signatures | PubMedIDs of publications reporting gene signatures containing C2ORF74 from the GeneSigDB Published Gene Signatures dataset. | |
| GEO Signatures of Differentially Expressed Genes for Diseases | disease perturbations changing expression of C2ORF74 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 C2ORF74 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 C2ORF74 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 C2ORF74 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 C2ORF74 gene from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset. | |
| GO Cellular Component Annotations 2015 | cellular components containing C2ORF74 protein from the curated GO Cellular Component Annotations 2015 dataset. | |
| GTEx eQTL 2025 | SNPs regulating expression of C2ORF74 gene from the GTEx eQTL 2025 dataset. | |
| GTEx Tissue-Specific Aging Signatures | tissue samples with high or low expression of C2ORF74 gene relative to other tissue samples from the GTEx Tissue-Specific Aging Signatures dataset. | |
| GWASdb SNP-Disease Associations | diseases associated with C2ORF74 gene in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. | |
| GWASdb SNP-Phenotype Associations | phenotypes associated with C2ORF74 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 C2ORF74 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 C2ORF74 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 C2ORF74 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 C2ORF74 gene relative to other tissue samples from the HPA Tissue Sample Gene Expression Profiles dataset. | |
| IMPC Knockout Mouse Phenotypes | phenotypes of mice caused by C2ORF74 gene knockout from the IMPC Knockout Mouse Phenotypes dataset. | |
| InterPro Predicted Protein Domain Annotations | protein domains predicted for C2ORF74 protein from the InterPro Predicted Protein Domain Annotations dataset. | |
| JASPAR Predicted Transcription Factor Targets | transcription factors regulating expression of C2ORF74 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 C2ORF74 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 C2ORF74 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 C2ORF74 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 C2ORF74 gene from the KnockTF Gene Expression Profiles with Transcription Factor Perturbations dataset. | |
| LOCATE Predicted Protein Localization Annotations | cellular components predicted to contain C2ORF74 protein from the LOCATE Predicted Protein Localization Annotations dataset. | |
| MGI Mouse Phenotype Associations 2023 | phenotypes of transgenic mice caused by C2ORF74 gene mutations from the MGI Mouse Phenotype Associations 2023 dataset. | |
| MiRTarBase microRNA Targets | microRNAs targeting C2ORF74 gene in low- or high-throughput microRNA targeting studies from the MiRTarBase microRNA Targets dataset. | |
| MotifMap Predicted Transcription Factor Targets | transcription factors regulating expression of C2ORF74 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 C2ORF74 gene from the NIBR DRUG-seq U2OS MoA Box dataset. | |
| Pathway Commons Protein-Protein Interactions | interacting proteins for C2ORF74 from the Pathway Commons Protein-Protein Interactions dataset. | |
| PerturbAtlas Signatures of Differentially Expressed Genes for Mouse Gene Perturbations | gene perturbations changing expression of C2ORF74 gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
| Replogle et al., Cell, 2022 RPE1 Essential Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of C2ORF74 gene from the Replogle et al., Cell, 2022 RPE1 Essential Perturb-seq Gene Perturbation Signatures dataset. | |
| Roadmap Epigenomics Cell and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of C2ORF74 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 C2ORF74 gene from the Roadmap Epigenomics Histone Modification Site Profiles dataset. | |
| RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of C2ORF74 gene from the RummaGEO Drug Perturbation Signatures dataset. | |
| RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of C2ORF74 gene from the RummaGEO Gene Perturbation Signatures dataset. | |
| TargetScan Predicted Conserved microRNA Targets | microRNAs regulating expression of C2ORF74 gene predicted using conserved miRNA seed sequences from the TargetScan Predicted Conserved microRNA Targets dataset. | |
| TargetScan Predicted Nonconserved microRNA Targets | microRNAs regulating expression of C2ORF74 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 C2ORF74 gene relative to other tissue samples from the TCGA Signatures of Differentially Expressed Genes for Tumors dataset. | |
| TISSUES Experimental Tissue Protein Expression Evidence Scores | tissues with high expression of C2ORF74 protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores dataset. | |
