| Name | chromosome 2 open reading frame 78 |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Recent studies have begun to shed light on the potential function of C2orf78. In an extensive evolutionary and structural re‐analysis of mitochondrial ribosomal components, one study identified several novel human mitochondrial ribosomal proteins, suggesting that C2orf78 may be a previously uncharacterized member of the mitoribosome. Its evolutionary trajectory appears to involve domain accretion and possible gene duplication or recruitment events from non‐mitoribosomal proteins, emphasizing its potential role in mitochondrial translation and the regulation of oxidative phosphorylation."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In parallel, comprehensive genome analyses exploring large tandem repeats have provided a broader context for gene organization within the human genome. Although this work primarily focused on the organization and copy number variation of complex DNA families, the genomic regions encompassing genes like C2orf78 may be influenced by such structural features, thereby impacting their regulation and function."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Moreover, advanced mapping of large genomic rearrangements in cancer, such as in prostate tumor samples, emphasizes a spectrum of structural variants that often intersect with genes of oncogenic potential. This work raises the possibility that the regulatory landscape of genes, including C2orf78, may occasionally be remodeled as a consequence of such rearrangements, potentially altering expression profiles in disease conditions."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Finally, genomic characterization of neuroblastoma mouse models, aimed at faithfully recapitulating the human disease, further underlines the importance of detailed genomic investigations in deciphering gene function. Such studies may eventually help clarify if and how alterations in C2orf78 contribute to oncogenic processes or mitochondrial dysfunction in cancer development."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Collectively, these integrated findings position C2orf78 as an intriguing candidate for further study. Its predicted involvement in the mitochondrial translation apparatus, coupled with its genomic context within regions prone to structural variability, highlights a dual relevance in both basic mitochondrial biology and in disease states such as cancer.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Paulien Smits, Jan A M Smeitink, Lambert P van den Heuvel, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "Analysis of the largest tandemly repeated DNA families in the human genome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Genomics (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/1471-2164-9-533"}], "href": "https://doi.org/10.1186/1471-2164-9-533"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18992157"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18992157"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Weerachai Jaratlerdsiri, Eva K F Chan, Desiree C Petersen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Next generation mapping reveals novel large genomic rearrangements in prostate cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Oncotarget (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.18632/oncotarget.15802"}], "href": "https://doi.org/10.18632/oncotarget.15802"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28423598"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28423598"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Bram De Wilde, Anneleen Beckers, Sven Lindner, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The mutational landscape of "}, {"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "MYCN"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": ", "}, {"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "Lin28b"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": " and "}, {"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "ALK"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "a", "children": [{"type": "t", "text": "sup"}], "href": "sup"}, {"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "F1174L"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "a", "children": [{"type": "t", "text": "/sup"}], "href": "/sup"}, {"type": "t", "text": " driven murine neuroblastoma mimics human disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Oncotarget (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.18632/oncotarget.23614"}], "href": "https://doi.org/10.18632/oncotarget.23614"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29492199"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29492199"}]}]}]}
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| Synonyms | HCG1989538, C2orf78, COG5373 |
| Proteins | CB078_HUMAN |
| NCBI Gene ID | 388960 |
| 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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C2ORF78 has 1,412 functional associations with biological entities spanning 8 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 31 datasets.
Click the + buttons to view associations for C2ORF78 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 C2ORF78 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset. | |
| CCLE Cell Line Gene CNV Profiles | cell lines with high or low copy number of C2ORF78 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset. | |
| ChEA Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of C2ORF78 gene from the CHEA Transcription Factor Binding Site Profiles dataset. | |
| ChEA Transcription Factor Targets | transcription factors binding the promoter of C2ORF78 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 C2ORF78 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset. | |
| COSMIC Cell Line Gene CNV Profiles | cell lines with high or low copy number of C2ORF78 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset. | |
| CTD Gene-Chemical Interactions | chemicals interacting with C2ORF78 gene/protein from the curated CTD Gene-Chemical Interactions dataset. | |
| DepMap CRISPR Gene Dependency | cell lines with fitness changed by C2ORF78 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 C2ORF78 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 C2ORF78 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 C2ORF78 gene from the ENCODE Transcription Factor Binding Site Profiles dataset. | |
| ENCODE Transcription Factor Targets | transcription factors binding the promoter of C2ORF78 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset. | |
| GeneSigDB Published Gene Signatures | PubMedIDs of publications reporting gene signatures containing C2ORF78 from the GeneSigDB Published Gene Signatures dataset. | |
| GEO Signatures of Differentially Expressed Genes for Kinase Perturbations | kinase perturbations changing expression of C2ORF78 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 C2ORF78 gene from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset. | |
| GEO Signatures of Differentially Expressed Genes for Viral Infections | virus perturbations changing expression of C2ORF78 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 C2ORF78 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles dataset. | |
| InterPro Predicted Protein Domain Annotations | protein domains predicted for C2ORF78 protein from the InterPro Predicted Protein Domain Annotations dataset. | |
| JASPAR Predicted Transcription Factor Targets | transcription factors regulating expression of C2ORF78 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 C2ORF78 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 C2ORF78 gene from the KnockTF Gene Expression Profiles with Transcription Factor Perturbations dataset. | |
| LOCATE Predicted Protein Localization Annotations | cellular components predicted to contain C2ORF78 protein from the LOCATE Predicted Protein Localization Annotations dataset. | |
| MotifMap Predicted Transcription Factor Targets | transcription factors regulating expression of C2ORF78 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 C2ORF78 gene from the NIBR DRUG-seq U2OS MoA Box dataset. | |
| NURSA Protein Complexes | protein complexs containing C2ORF78 protein recovered by IP-MS from the NURSA Protein Complexes dataset. | |
| Roadmap Epigenomics Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at C2ORF78 gene from the Roadmap Epigenomics Histone Modification Site Profiles dataset. | |
| Rummagene Transcription Factor Associations 2026 | transcription factors regulating expression of C2ORF78 gene from the Rummagene Transcription Factor Associations 2026 dataset. | |
| RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of C2ORF78 gene from the RummaGEO Drug Perturbation Signatures dataset. | |
| RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of C2ORF78 gene from the RummaGEO Gene Perturbation Signatures dataset. | |
| TargetScan Predicted Nonconserved microRNA Targets | microRNAs regulating expression of C2ORF78 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 C2ORF78 gene relative to other tissue samples from the TCGA Signatures of Differentially Expressed Genes for Tumors dataset. | |