| Name | chromosome 12 open reading frame 71 |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Although none of the studies provide a direct functional characterization of C12orf71, insights gleaned from these diverse genomic investigations suggest several hypothetical roles for this gene. In one study examining the evolutionary diversification of the mammalian lysozyme family, researchers demonstrated that gene duplications have given rise to multiple family members with conserved intron–exon structure yet diverse functions. This finding raises the possibility that C12orf71—by virtue of being an uncharacterized member of this extended lysozyme-like family—may have evolved functions that extend beyond classical roles in host defense, potentially participating in specialized biological processes."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In a separate study focused on the genetic heterogeneity of chronic lymphocytic leukaemia, whole exome sequencing and copy number aberration analyses revealed compartment-specific somatic mutations and chromosomal alterations. Although C12orf71 was not highlighted as a driver in this analysis, the observation of clonal diversity and the emergence of specific lesions in different tissue compartments suggest that genes similar to C12orf71 might contribute to disease evolution and progression, warranting future investigation into its potential involvement in oncogenic processes."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Furthermore, a genome-wide methylation profiling study of HPV-induced warts found marked differences in the methylation status of host genes. While the work primarily emphasizes epigenetic alterations in long non-coding RNAs and other targets, it also implies that genes such as C12orf71 could be subject to differential methylation during benign HPV infections, which may influence their expression and functional outcomes. This epigenetic modification hints at a regulatory layer by which C12orf71 might participate in the host response to viral infection."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In summary, while C12orf71’s precise biological role remains to be established, comparative genomics suggests it may be part of an evolutionarily expanded lysozyme-like gene family with diversified functions, it could potentially be implicated in the genomic heterogeneity observed in malignancies, and it might be regulated epigenetically in response to viral infections.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "David M Irwin, Jason M Biegel, Caro-Beth Stewart "}, {"type": "b", "children": [{"type": "t", "text": "Evolution of the mammalian lysozyme gene family."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Evol Biol (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/1471-2148-11-166"}], "href": "https://doi.org/10.1186/1471-2148-11-166"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21676251"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21676251"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Ilaria Del Giudice, Marilisa Marinelli, Jiguang Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Inter- and intra-patient clonal and subclonal heterogeneity of chronic lymphocytic leukaemia: evidences from circulating and lymph nodal compartments."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Br J Haematol (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/bjh.13859"}], "href": "https://doi.org/10.1111/bjh.13859"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26597680"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26597680"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Mansour A Alghamdi, Laith N Al-Eitan, Amneh H Tarkhan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Global gene methylation profiling of common warts caused by human papillomaviruses infection."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Saudi J Biol Sci (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.sjbs.2020.10.050"}], "href": "https://doi.org/10.1016/j.sjbs.2020.10.050"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33424347"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33424347"}]}]}]}
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| Synonyms | C12orf71 |
| Proteins | CL071_HUMAN |
| NCBI Gene ID | 728858 |
| 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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C12ORF71 has 2,056 functional associations with biological entities spanning 8 categories (molecular profile, organism, disease, phenotype or trait, chemical, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 36 datasets.
Click the + buttons to view associations for C12ORF71 from the datasets below.
If available, associations are ranked by standardized value
| Dataset | Summary | |
|---|---|---|
| Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles | tissues with high or low expression of C12ORF71 gene relative to other tissues from the Allen Brain Atlas Adult Mouse 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 C12ORF71 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 Prenatal Human Brain Tissue Gene Expression Profiles | tissues with high or low expression of C12ORF71 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 C12ORF71 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset. | |
| CellMarker Gene-Cell Type Associations | cell types associated with C12ORF71 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 C12ORF71 gene from the CHEA Transcription Factor Binding Site Profiles dataset. | |
| ChEA Transcription Factor Targets | transcription factors binding the promoter of C12ORF71 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 C12ORF71 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 C12ORF71 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 C12ORF71 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset. | |
| DISEASES Experimental Gene-Disease Association Evidence Scores 2025 | diseases associated with C12ORF71 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 C12ORF71 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 C12ORF71 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 C12ORF71 gene from the ENCODE Transcription Factor Binding Site Profiles dataset. | |
| ENCODE Transcription Factor Targets | transcription factors binding the promoter of C12ORF71 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset. | |
| GEO Signatures of Differentially Expressed Genes for Kinase Perturbations | kinase perturbations changing expression of C12ORF71 gene from the GEO Signatures of Differentially Expressed Genes for Kinase Perturbations dataset. | |
| GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations | transcription factor perturbations changing expression of C12ORF71 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 C12ORF71 gene from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset. | |
| GTEx eQTL 2025 | SNPs regulating expression of C12ORF71 gene from the GTEx eQTL 2025 dataset. | |
| GTEx Tissue Gene Expression Profiles | tissues with high or low expression of C12ORF71 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 C12ORF71 gene relative to other tissue samples from the GTEx Tissue Sample Gene Expression Profiles dataset. | |
| HPA Tissue Gene Expression Profiles | tissues with high or low expression of C12ORF71 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 C12ORF71 protein relative to other tissues from the HPA Tissue Protein Expression Profiles dataset. | |
| InterPro Predicted Protein Domain Annotations | protein domains predicted for C12ORF71 protein from the InterPro Predicted Protein Domain Annotations dataset. | |
| JASPAR Predicted Transcription Factor Targets | transcription factors regulating expression of C12ORF71 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 C12ORF71 gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles dataset. | |
| MGI Mouse Phenotype Associations 2023 | phenotypes of transgenic mice caused by C12ORF71 gene mutations from the MGI Mouse Phenotype Associations 2023 dataset. | |
| MotifMap Predicted Transcription Factor Targets | transcription factors regulating expression of C12ORF71 gene predicted using known transcription factor binding site motifs from the MotifMap Predicted Transcription Factor Targets dataset. | |
| PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations | gene perturbations changing expression of C12ORF71 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 C12ORF71 gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
| Roadmap Epigenomics Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at C12ORF71 gene from the Roadmap Epigenomics Histone Modification Site Profiles dataset. | |
| Rummagene Transcription Factor Associations 2026 | transcription factors regulating expression of C12ORF71 gene from the Rummagene Transcription Factor Associations 2026 dataset. | |
| RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of C12ORF71 gene from the RummaGEO Drug Perturbation Signatures dataset. | |
| RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of C12ORF71 gene from the RummaGEO Gene Perturbation Signatures dataset. | |
| TargetScan Predicted Nonconserved microRNA Targets | microRNAs regulating expression of C12ORF71 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 C12ORF71 gene relative to other tissue samples from the TCGA Signatures of Differentially Expressed Genes for Tumors dataset. | |