| Name | chromosome 22 open reading frame 39 |
| Description | Predicted to be involved in negative regulation of long-term synaptic potentiation. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025] |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Recent research has begun to shed light on a potential role of the human gene C22orf39, which is located on chromosome 22, in tumorigenesis. In a study of hepatocarcinogenesis, normal liver stem cells were transformed by MYC overexpression, and it was observed that C22orf39 – along with several other genes – was completely silenced during this process. This loss of expression suggests that C22orf39 may normally function in maintaining cellular homeostasis and that its absence could contribute to, or be critical for, the transformation of liver cells into cancer stem cells."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Additional efforts to generate full-length cDNA clones from human chromosome 22 have successfully included C22orf39, underscoring its recognition as a bona fide open reading frame and providing a foundation for further functional studies."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": " Although subsequent transcriptomic analyses in varied contexts – such as immune modulation in chronic helminth infections"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": ", mapping of copy number variants in Williams-Beuren syndrome"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": ", and advancements in RNA sequencing methods"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": "as well as in osteoarthritis cartilage studies"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": "– did not directly evaluate C22orf39, their collective emphasis on the importance of precise gene regulation and expression in disease states indirectly supports the notion that further investigation of C22orf39 is warranted."}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In summary, while functional details of C22orf39 remain to be fully elucidated, its silencing in the context of MYC-induced transformation hints at a potentially critical role in suppressing tumorigenesis. Future research will be essential to clarify its molecular functions and implications in both normal physiology and disease.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Rajagopal N Aravalli, Neil C Talbot, Clifford J Steer "}, {"type": "b", "children": [{"type": "t", "text": "Gene expression profiling of MYC-driven tumor signatures in porcine liver stem cells by transcriptome sequencing."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "World J Gastroenterol (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3748/wjg.v21.i7.2011"}], "href": "https://doi.org/10.3748/wjg.v21.i7.2011"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25717234"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25717234"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "John E Collins, Charmain L Wright, Carol A Edwards, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A genome annotation-driven approach to cloning the human ORFeome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genome Biol (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/gb-2004-5-10-r84"}], "href": "https://doi.org/10.1186/gb-2004-5-10-r84"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15461802"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15461802"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Miguel Reina Ortiz, Fernanda Schreiber, Susana Benitez, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Effects of chronic ascariasis and trichuriasis on cytokine production and gene expression in human blood: a cross-sectional study."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS Negl Trop Dis (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pntd.0001157"}], "href": "https://doi.org/10.1371/journal.pntd.0001157"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21666788"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21666788"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Godfrey E Etokebe, Stefan Axelsson, Niels Henrik Svaerd, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Detection of Hemizygous Chromosomal Copy Number Variants in Williams-Beuren Syndrome (WBS) by Duplex Quantitative PCR Array: An Unusual Type of WBS Genetic Defect."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Biomed Sci (2008)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23675084"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23675084"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Nadia M Davidson, Anthony D K Hawkins, Alicia Oshlack "}, {"type": "b", "children": [{"type": "t", "text": "SuperTranscripts: a data driven reference for analysis and visualisation of transcriptomes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genome Biol (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s13059-017-1284-1"}], "href": "https://doi.org/10.1186/s13059-017-1284-1"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28778180"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28778180"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Rodrigo Coutinho de Almeida, Yolande F M Ramos, Ahmed Mahfouz, et al. "}, {"type": "b", "children": [{"type": "t", "text": "RNA sequencing data integration reveals an miRNA interactome of osteoarthritis cartilage."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Ann Rheum Dis (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1136/annrheumdis-2018-213882"}], "href": "https://doi.org/10.1136/annrheumdis-2018-213882"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30504444"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30504444"}]}]}]}
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| Synonyms | C22orf39 |
| Proteins | CV039_HUMAN |
| NCBI Gene ID | 128977 |
| 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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C22ORF39 has 3,459 functional associations with biological entities spanning 8 categories (molecular profile, organism, disease, phenotype or trait, functional term, phrase or reference, chemical, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 61 datasets.
Click the + buttons to view associations for C22ORF39 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 C22ORF39 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 C22ORF39 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 Microarray | tissue samples with high or low expression of C22ORF39 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset. | |
| Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq | tissue samples with high or low expression of C22ORF39 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 C22ORF39 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 C22ORF39 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 C22ORF39 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset. | |
| CCLE Cell Line Proteomics | Cell lines associated with C22ORF39 protein from the CCLE Cell Line Proteomics dataset. | |
| CellMarker Gene-Cell Type Associations | cell types associated with C22ORF39 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 C22ORF39 gene from the CHEA Transcription Factor Binding Site Profiles dataset. | |
| ChEA Transcription Factor Targets | transcription factors binding the promoter of C22ORF39 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset. | |
| COSMIC Cell Line Gene CNV Profiles | cell lines with high or low copy number of C22ORF39 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset. | |
| DepMap CRISPR Gene Dependency | cell lines with fitness changed by C22ORF39 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 C22ORF39 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 C22ORF39 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 C22ORF39 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 C22ORF39 gene from the ENCODE Transcription Factor Binding Site Profiles dataset. | |
| ENCODE Transcription Factor Targets | transcription factors binding the promoter of C22ORF39 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset. | |
| GeneSigDB Published Gene Signatures | PubMedIDs of publications reporting gene signatures containing C22ORF39 from the GeneSigDB Published Gene Signatures dataset. | |
| GEO Signatures of Differentially Expressed Genes for Diseases | disease perturbations changing expression of C22ORF39 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 C22ORF39 gene from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
| GEO Signatures of Differentially Expressed Genes for Kinase Perturbations | kinase perturbations changing expression of C22ORF39 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 C22ORF39 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 C22ORF39 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 C22ORF39 gene from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset. | |
| GO Biological Process Annotations 2025 | biological processes involving C22ORF39 gene from the curated GO Biological Process Annotations2025 dataset. | |
| GO Molecular Function Annotations 2015 | molecular functions performed by C22ORF39 gene from the curated GO Molecular Function Annotations 2015 dataset. | |
| GTEx eQTL 2025 | SNPs regulating expression of C22ORF39 gene from the GTEx eQTL 2025 dataset. | |
| GTEx Tissue Gene Expression Profiles | tissues with high or low expression of C22ORF39 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 C22ORF39 gene relative to other tissue samples from the GTEx Tissue Sample Gene Expression Profiles dataset. | |
| GWASdb SNP-Disease Associations | diseases associated with C22ORF39 gene in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. | |
| GWASdb SNP-Phenotype Associations | phenotypes associated with C22ORF39 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 C22ORF39 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 C22ORF39 gene relative to other tissues from the HPA Tissue Gene Expression Profiles dataset. | |
| HPA Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of C22ORF39 gene relative to other tissue samples from the HPA Tissue Sample Gene Expression Profiles dataset. | |
| IMPC Knockout Mouse Phenotypes | phenotypes of mice caused by C22ORF39 gene knockout from the IMPC Knockout Mouse Phenotypes dataset. | |
| JASPAR Predicted Transcription Factor Targets | transcription factors regulating expression of C22ORF39 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 C22ORF39 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 C22ORF39 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 C22ORF39 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 C22ORF39 gene from the KnockTF Gene Expression Profiles with Transcription Factor Perturbations dataset. | |
| LOCATE Predicted Protein Localization Annotations | cellular components predicted to contain C22ORF39 protein from the LOCATE Predicted Protein Localization Annotations dataset. | |
| MGI Mouse Phenotype Associations 2023 | phenotypes of transgenic mice caused by C22ORF39 gene mutations from the MGI Mouse Phenotype Associations 2023 dataset. | |
| MotifMap Predicted Transcription Factor Targets | transcription factors regulating expression of C22ORF39 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 C22ORF39 gene from the NIBR DRUG-seq U2OS MoA Box dataset. | |
| Pathway Commons Protein-Protein Interactions | interacting proteins for C22ORF39 from the Pathway Commons Protein-Protein Interactions dataset. | |
| PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations | gene perturbations changing expression of C22ORF39 gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
| PerturbAtlas Signatures of Differentially Expressed Genes for Mouse Gene Perturbations | gene perturbations changing expression of C22ORF39 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 C22ORF39 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 C22ORF39 gene from the Replogle et al., Cell, 2022 K562 Genome-wide Perturb-seq Gene Perturbation Signatures dataset. | |
| Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles | cell types and tissues with high or low DNA methylation of C22ORF39 gene relative to other cell types and tissues from the Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles dataset. | |
| Roadmap Epigenomics Cell and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of C22ORF39 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 C22ORF39 gene from the Roadmap Epigenomics Histone Modification Site Profiles dataset. | |
| RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of C22ORF39 gene from the RummaGEO Drug Perturbation Signatures dataset. | |
| RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of C22ORF39 gene from the RummaGEO Gene Perturbation Signatures dataset. | |
| Sci-Plex Drug Perturbation Signatures | drug perturbations changing expression of C22ORF39 gene from the Sci-Plex Drug Perturbation Signatures dataset. | |
| TargetScan Predicted Conserved microRNA Targets | microRNAs regulating expression of C22ORF39 gene predicted using conserved miRNA seed sequences from the TargetScan Predicted Conserved microRNA Targets dataset. | |
| TargetScan Predicted Nonconserved microRNA Targets | microRNAs regulating expression of C22ORF39 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 C22ORF39 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 C22ORF39 protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores dataset. | |
| WikiPathways Pathways 2024 | pathways involving C22ORF39 protein from the WikiPathways Pathways 2024 dataset. | |
