| Name | chromosome 19 open reading frame 12 |
| Description | This gene encodes a small transmembrane protein. Mutations in this gene are a cause of neurodegeneration with brain iron accumulation-4 (NBIA4), but the specific function of the encoded protein is unknown. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nResearch over the past decade has revealed that mutations in C19orf12 are a major cause of a distinct subtype of neurodegeneration with brain iron accumulation (NBIA), now designated mitochondrial membrane protein‐associated neurodegeneration (MPAN). Genetic studies have identified both homozygous and compound heterozygous mutations in this orphan gene in patients presenting with features such as parkinsonism, spastic paraplegia, optic atrophy, neuropsychological abnormalities, and a relatively later age at onset with a more slowly progressive course compared with other NBIA subtypes. These observations have expanded the clinical‐genetic spectrum of NBIA and underscored the critical importance of a highly conserved hydrophobic domain in C19orf12 for its proper function."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "11"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nFunctional studies indicate that the C19orf12 gene product is a small, membrane-associated protein that prominently localizes to mitochondria, suggesting a role in maintaining mitochondrial homeostasis. The presence of a conserved, extended hydrophobic domain appears essential for proper subcellular localization, and experimental models have demonstrated that loss of C19orf12 function disrupts mitochondrial integrity. In cellular systems, C19orf12 deficiency has been linked to fragmentation of the mitochondrial network, altered iron handling, dysregulated lipid metabolism, increased oxidative stress, and a predisposition toward ferroptotic cell death."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}, {"type": "fg_f", "ref": "4"}, {"type": "fg_fs", "start_ref": "12", "end_ref": "15"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nClinically, the disruption of C19orf12 function manifests as a broad spectrum of neurological deficits that reflect impaired mitochondrial metabolism and aberrant lipid and iron homeostasis. Patients with pathogenic variants develop MPAN with features ranging from motor neuron dysfunction and extrapyramidal signs to psychiatric disturbances and cognitive decline, supporting the hypothesis that mitochondrial dysfunction is a common pathogenic mechanism across diverse neurodegenerative disorders. These findings serve as a basis for ongoing investigations into targeted therapeutic strategies aimed at restoring mitochondrial and metabolic balance in affected individuals."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "6", "end_ref": "11"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Monika B Hartig, Arcangela Iuso, Tobias Haack, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2011.09.007"}], "href": "https://doi.org/10.1016/j.ajhg.2011.09.007"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21981780"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21981780"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Celeste Panteghini, Giovanna Zorzi, Paola Venco, et al. "}, {"type": "b", "children": [{"type": "t", "text": "C19orf12 and FA2H mutations are rare in Italian patients with neurodegeneration with brain iron accumulation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Semin Pediatr Neurol (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.spen.2012.03.006"}], "href": "https://doi.org/10.1016/j.spen.2012.03.006"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22704260"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22704260"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Mitra Ansari Dezfouli, Afagh Alavi, Mohammad Rohani, et al. "}, {"type": "b", "children": [{"type": "t", "text": "PANK2 and C19orf12 mutations are common causes of neurodegeneration with brain iron accumulation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mov Disord (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/mds.25271"}], "href": "https://doi.org/10.1002/mds.25271"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23166001"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23166001"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Guida Landouré, Peng-Peng Zhu, Charles M Lourenço, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mutat (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/humu.22378"}], "href": "https://doi.org/10.1002/humu.22378"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23857908"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23857908"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Monica Gagliardi, Grazia Annesi, G Lesca, et al. "}, {"type": "b", "children": [{"type": "t", "text": "C19orf12 gene mutations in patients with neurodegeneration with brain iron accumulation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Parkinsonism Relat Disord (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.parkreldis.2015.04.009"}], "href": "https://doi.org/10.1016/j.parkreldis.2015.04.009"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25962551"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25962551"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Simone Olgiati, Okan Doğu, Zeynep Tufekcioglu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The p.Thr11Met mutation in c19orf12 is frequent among adult Turkish patients with MPAN."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Parkinsonism Relat Disord (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.parkreldis.2017.03.012"}], "href": "https://doi.org/10.1016/j.parkreldis.2017.03.012"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28347615"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28347615"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Susan J Hayflick, Manju A Kurian, Penelope Hogarth "}, {"type": "b", "children": [{"type": "t", "text": "Neurodegeneration with brain iron accumulation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Handb Clin Neurol (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/B978-0-444-63233-3.00019-1"}], "href": "https://doi.org/10.1016/B978-0-444-63233-3.00019-1"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29325618"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29325618"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Gauthier Remiche, Isabelle Vandernoot, Niloufar Sadeghi-Meibodi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "SPG43 and ALS-like syndrome in the same family due to compound heterozygous mutations of the C19orf12 gene: a case description and brief review."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurogenetics (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s10048-020-00631-4"}], "href": "https://doi.org/10.1007/s10048-020-00631-4"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33394258"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33394258"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Sevcan Mercan, Sibel Aylin Ugur Iseri, Remzi Yigiter, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Two cases with mitochondrial membrane protein-associated neurodegeneration: genetic features and long-term clinical follow-up."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurocase (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1080/13554794.2021.2022702"}], "href": "https://doi.org/10.1080/13554794.2021.2022702"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35188090"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35188090"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Huan-Yun Chen, Han-I Lin, Chia-Lang Hsu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A novel C19orf12 frameshift mutation in a MPAN pedigree impairs mitochondrial function and connectivity leading to neurodegeneration."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Parkinsonism Relat Disord (2023)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.parkreldis.2023.105353"}], "href": "https://doi.org/10.1016/j.parkreldis.2023.105353"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "36863113"}], "href": "https://pubmed.ncbi.nlm.nih.gov/36863113"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Sihui Chen, Xiaohui Lai, Jiajia Fu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A novel C19ORF12 mutation in two MPAN sisters treated with deferiprone."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Neurol (2023)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s12883-023-03172-z"}], "href": "https://doi.org/10.1186/s12883-023-03172-z"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "37004026"}], "href": "https://pubmed.ncbi.nlm.nih.gov/37004026"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Manar Aoun, Valeria Tiranti "}, {"type": "b", "children": [{"type": "t", "text": "Mitochondria: A crossroads for lipid metabolism defect in neurodegeneration with brain iron accumulation diseases."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Biochem Cell Biol (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.biocel.2015.01.018"}], "href": "https://doi.org/10.1016/j.biocel.2015.01.018"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25668476"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25668476"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "Petr Dusek, Ralf Mekle, Marta Skowronska, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Brain iron and metabolic abnormalities in C19orf12 mutation carriers: A 7.0 tesla MRI study in mitochondrial membrane protein-associated neurodegeneration."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mov Disord (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/mds.27827"}], "href": "https://doi.org/10.1002/mds.27827"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31518459"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31518459"}]}, {"type": "r", "ref": 14, "children": [{"type": "t", "text": "Olivia J Rickman, Claire G Salter, Adam C Gunning, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Parkinsonism Relat Disord (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.parkreldis.2020.10.041"}], "href": "https://doi.org/10.1016/j.parkreldis.2020.10.041"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33260061"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33260061"}]}, {"type": "r", "ref": 15, "children": [{"type": "t", "text": "Changjuan Shao, Julia Zhu, Xiaopin Ma, et al. "}, {"type": "b", "children": [{"type": "t", "text": "C19orf12 ablation causes ferroptosis in mitochondrial membrane protein-associated with neurodegeneration."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Free Radic Biol Med (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.freeradbiomed.2022.02.006"}], "href": "https://doi.org/10.1016/j.freeradbiomed.2022.02.006"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35182730"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35182730"}]}]}]}
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| Synonyms | MPAN, SPG43, C19orf12 |
| Proteins | CS012_HUMAN |
| NCBI Gene ID | 83636 |
| 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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C19ORF12 has 4,693 functional associations with biological entities spanning 7 categories (molecular profile, organism, disease, phenotype or trait, functional term, phrase or reference, chemical, cell line, cell type or tissue, gene, protein or microRNA) extracted from 87 datasets.
Click the + buttons to view associations for C19ORF12 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 C19ORF12 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 C19ORF12 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 C19ORF12 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 C19ORF12 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 C19ORF12 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset. | |
| BioGPS Human Cell Type and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of C19ORF12 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset. | |
| BioGPS Mouse Cell Type and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of C19ORF12 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 C19ORF12 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 C19ORF12 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset. | |
| CCLE Cell Line Proteomics | Cell lines associated with C19ORF12 protein from the CCLE Cell Line Proteomics dataset. | |
| ChEA Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of C19ORF12 gene from the CHEA Transcription Factor Binding Site Profiles dataset. | |
| ChEA Transcription Factor Targets | transcription factors binding the promoter of C19ORF12 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset. | |
| ClinVar Gene-Phenotype Associations | phenotypes associated with C19ORF12 gene from the curated ClinVar Gene-Phenotype Associations dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores | cellular components containing C19ORF12 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. | |
| COMPARTMENTS Text-mining Protein Localization Evidence Scores | cellular components co-occuring with C19ORF12 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. | |
| COSMIC Cell Line Gene CNV Profiles | cell lines with high or low copy number of C19ORF12 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset. | |
| CTD Gene-Chemical Interactions | chemicals interacting with C19ORF12 gene/protein from the curated CTD Gene-Chemical Interactions dataset. | |
| CTD Gene-Disease Associations | diseases associated with C19ORF12 gene/protein from the curated CTD Gene-Disease Associations dataset. | |
| dbGAP Gene-Trait Associations | traits associated with C19ORF12 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. | |
| DepMap CRISPR Gene Dependency | cell lines with fitness changed by C19ORF12 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset. | |
| DISEASES Curated Gene-Disease Association Evidence Scores | diseases involving C19ORF12 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. | |
| DISEASES Curated Gene-Disease Association Evidence Scores 2025 | diseases involving C19ORF12 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. | |
| DISEASES Experimental Gene-Disease Association Evidence Scores 2025 | diseases associated with C19ORF12 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset. | |
| DISEASES Text-mining Gene-Disease Association Evidence Scores | diseases co-occuring with C19ORF12 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. | |
| DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 | diseases co-occuring with C19ORF12 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 C19ORF12 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. | |
| DisGeNET Gene-Phenotype Associations | phenotypes associated with C19ORF12 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset. | |
| ENCODE Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at C19ORF12 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 C19ORF12 gene from the ENCODE Transcription Factor Binding Site Profiles dataset. | |
| ENCODE Transcription Factor Targets | transcription factors binding the promoter of C19ORF12 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 C19ORF12 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset. | |
| GeneRIF Biological Term Annotations | biological terms co-occuring with C19ORF12 gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. | |
| GeneSigDB Published Gene Signatures | PubMedIDs of publications reporting gene signatures containing C19ORF12 from the GeneSigDB Published Gene Signatures dataset. | |
| GEO Signatures of Differentially Expressed Genes for Diseases | disease perturbations changing expression of C19ORF12 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 C19ORF12 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 C19ORF12 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 C19ORF12 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 C19ORF12 gene from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset. | |
| GO Biological Process Annotations 2023 | biological processes involving C19ORF12 gene from the curated GO Biological Process Annotations 2023 dataset. | |
| GO Biological Process Annotations 2025 | biological processes involving C19ORF12 gene from the curated GO Biological Process Annotations2025 dataset. | |
| GO Cellular Component Annotations 2015 | cellular components containing C19ORF12 protein from the curated GO Cellular Component Annotations 2015 dataset. | |
| GO Cellular Component Annotations 2023 | cellular components containing C19ORF12 protein from the curated GO Cellular Component Annotations 2023 dataset. | |
| GO Cellular Component Annotations 2025 | cellular components containing C19ORF12 protein from the curated GO Cellular Component Annotations 2025 dataset. | |
| GTEx Tissue Gene Expression Profiles | tissues with high or low expression of C19ORF12 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 C19ORF12 gene relative to other tissue samples from the GTEx Tissue Sample Gene Expression Profiles dataset. | |
| GTEx Tissue-Specific Aging Signatures | tissue samples with high or low expression of C19ORF12 gene relative to other tissue samples from the GTEx Tissue-Specific Aging Signatures dataset. | |
| GWASdb SNP-Disease Associations | diseases associated with C19ORF12 gene in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. | |
| GWASdb SNP-Phenotype Associations | phenotypes associated with C19ORF12 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 C19ORF12 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 C19ORF12 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 C19ORF12 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 C19ORF12 gene relative to other tissue samples from the HPA Tissue Sample Gene Expression Profiles dataset. | |
| HPM Cell Type and Tissue Protein Expression Profiles | cell types and tissues with high or low expression of C19ORF12 protein relative to other cell types and tissues from the HPM Cell Type and Tissue Protein Expression Profiles dataset. | |
| HPO Gene-Disease Associations | phenotypes associated with C19ORF12 gene by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. | |
| Hub Proteins Protein-Protein Interactions | interacting hub proteins for C19ORF12 from the curated Hub Proteins Protein-Protein Interactions dataset. | |
| JASPAR Predicted Transcription Factor Targets | transcription factors regulating expression of C19ORF12 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 C19ORF12 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 C19ORF12 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 C19ORF12 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 C19ORF12 gene from the KnockTF Gene Expression Profiles with Transcription Factor Perturbations dataset. | |
| LOCATE Predicted Protein Localization Annotations | cellular components predicted to contain C19ORF12 protein from the LOCATE Predicted Protein Localization Annotations dataset. | |
| MiRTarBase microRNA Targets | microRNAs targeting C19ORF12 gene in low- or high-throughput microRNA targeting studies from the MiRTarBase microRNA Targets dataset. | |
| NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles | drug perturbations changing expression of C19ORF12 gene from the NIBR DRUG-seq U2OS MoA Box dataset. | |
| NURSA Protein Complexes | protein complexs containing C19ORF12 protein recovered by IP-MS from the NURSA Protein Complexes dataset. | |
| OMIM Gene-Disease Associations | phenotypes associated with C19ORF12 gene from the curated OMIM Gene-Disease Associations dataset. | |
| Pathway Commons Protein-Protein Interactions | interacting proteins for C19ORF12 from the Pathway Commons Protein-Protein Interactions dataset. | |
| PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations | gene perturbations changing expression of C19ORF12 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 C19ORF12 gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
| PFOCR Pathway Figure Associations 2023 | pathways involving C19ORF12 protein from the PFOCR Pathway Figure Associations 2023 dataset. | |
| PFOCR Pathway Figure Associations 2024 | pathways involving C19ORF12 protein from the Wikipathways PFOCR 2024 dataset. | |
| Replogle et al., Cell, 2022 K562 Essential Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of C19ORF12 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 C19ORF12 gene from the Replogle et al., Cell, 2022 K562 Genome-wide Perturb-seq Gene Perturbation Signatures dataset. | |
| Replogle et al., Cell, 2022 RPE1 Essential Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of C19ORF12 gene from the Replogle et al., Cell, 2022 RPE1 Essential 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 C19ORF12 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 C19ORF12 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 C19ORF12 gene from the Roadmap Epigenomics Histone Modification Site Profiles dataset. | |
| RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of C19ORF12 gene from the RummaGEO Drug Perturbation Signatures dataset. | |
| RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of C19ORF12 gene from the RummaGEO Gene Perturbation Signatures dataset. | |
| Sanger Dependency Map Cancer Cell Line Proteomics | cell lines associated with C19ORF12 protein from the Sanger Dependency Map Cancer Cell Line Proteomics dataset. | |
| Sci-Plex Drug Perturbation Signatures | drug perturbations changing expression of C19ORF12 gene from the Sci-Plex Drug Perturbation Signatures dataset. | |
| TargetScan Predicted Conserved microRNA Targets | microRNAs regulating expression of C19ORF12 gene predicted using conserved miRNA seed sequences from the TargetScan Predicted Conserved microRNA Targets dataset. | |
| TargetScan Predicted Nonconserved microRNA Targets | microRNAs regulating expression of C19ORF12 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 C19ORF12 gene relative to other tissue samples from the TCGA Signatures of Differentially Expressed Genes for Tumors dataset. | |
| TISSUES Curated Tissue Protein Expression Evidence Scores | tissues with high expression of C19ORF12 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset. | |
| TISSUES Experimental Tissue Protein Expression Evidence Scores | tissues with high expression of C19ORF12 protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores dataset. | |
| TISSUES Text-mining Tissue Protein Expression Evidence Scores | tissues co-occuring with C19ORF12 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. | |
| WikiPathways Pathways 2024 | pathways involving C19ORF12 protein from the WikiPathways Pathways 2024 dataset. | |
