| HGNC Family | Transglutaminases (TGM) |
| Name | transglutaminase 6 |
| Description | The protein encoded by this gene belongs to the transglutaminase superfamily. It catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. Mutations in this gene are associated with spinocerebellar ataxia type 35 (SCA35). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nTransglutaminase 6 (TG6), encoded by the TGM6 gene, functions as an enzyme that catalyzes post‐translational modifications—including deamidation and cross‐linking of proteins—thereby contributing to neuronal integrity. Multiple studies have identified missense mutations in TGM6 that underlie certain forms of autosomal‐dominant spinocerebellar ataxia, notably SCA35, where mutant TG6 exhibits aberrant subcellular localization, insolubility, and loss of enzymatic activity triggering an unfolded protein response and neurotoxicity. In parallel, altered immune reactivity to TG6 has been implicated in gluten ataxia; TG6 is capable of specifically deamidating gluten T cell epitopes and the detection of TG6 autoantibodies aids in the diagnosis of this extraintestinal manifestation of gluten sensitivity."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "6"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nBeyond its well‐documented roles in neurodegeneration and autoimmunity, emerging evidence indicates that TGM6 may also influence host immune responses. A recent genome‐wide association study identified a risk allele at the TGM6 locus linked to lower TG6 mRNA levels in peripheral blood mononuclear cells and severe pulmonary tuberculosis. Moreover, tgm6‐deficient mice exhibited increased susceptibility to Mycobacterium tuberculosis infection, suggesting that TG6 may contribute to protective immune mechanisms."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Jorunn Stamnaes, Siri Dorum, Burkhard Fleckenstein, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Gluten T cell epitope targeting by TG3 and TG6; implications for dermatitis herpetiformis and gluten ataxia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Amino Acids (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00726-010-0554-y"}], "href": "https://doi.org/10.1007/s00726-010-0554-y"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20300788"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20300788"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Jun Ling Wang, Xu Yang, Kun Xia, et al. "}, {"type": "b", "children": [{"type": "t", "text": "TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Brain (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/brain/awq323"}], "href": "https://doi.org/10.1093/brain/awq323"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21106500"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21106500"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Anna Sailer, Henry Houlden "}, {"type": "b", "children": [{"type": "t", "text": "Recent advances in the genetics of cerebellar ataxias."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Curr Neurol Neurosci Rep (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s11910-012-0267-6"}], "href": "https://doi.org/10.1007/s11910-012-0267-6"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22527681"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22527681"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "M Li, S Y Y Pang, Y Song, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Whole exome sequencing identifies a novel mutation in the transglutaminase 6 gene for spinocerebellar ataxia in a Chinese family."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Clin Genet (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/j.1399-0004.2012.01895.x"}], "href": "https://doi.org/10.1111/j.1399-0004.2012.01895.x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22554020"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22554020"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Marios Hadjivassiliou, Pascale Aeschlimann, David S Sanders, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Transglutaminase 6 antibodies in the diagnosis of gluten ataxia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurology (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1212/WNL.0b013e3182919070"}], "href": "https://doi.org/10.1212/WNL.0b013e3182919070"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23576621"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23576621"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Debasmita Tripathy, Beatrice Vignoli, Nandini Ramesh, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in TGM6 induce the unfolded protein response in SCA35."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddx259"}], "href": "https://doi.org/10.1093/hmg/ddx259"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28934387"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28934387"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Ruijuan Zheng, Zhiqiang Li, Fusheng He, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genome-wide association study identifies two risk loci for tuberculosis in Han Chinese."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Commun (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41467-018-06539-w"}], "href": "https://doi.org/10.1038/s41467-018-06539-w"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30287856"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30287856"}]}]}]}
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| Synonyms | TGM3L, DJ734P14.3, SCA35, TGY, TG6 |
| Proteins | TGM3L_HUMAN |
| NCBI Gene ID | 343641 |
| 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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TGM6 has 1,961 functional associations with biological entities spanning 7 categories (molecular profile, disease, phenotype or trait, functional term, phrase or reference, chemical, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 71 datasets.
Click the + buttons to view associations for TGM6 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 TGM6 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. | |
| Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray | tissue samples with high or low expression of TGM6 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset. | |
| Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles | tissues with high or low expression of TGM6 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 TGM6 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 TGM6 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 TGM6 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 TGM6 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset. | |
| ChEA Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of TGM6 gene from the CHEA Transcription Factor Binding Site Profiles dataset. | |
| ChEA Transcription Factor Targets | transcription factors binding the promoter of TGM6 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset. | |
| ClinVar Gene-Phenotype Associations | phenotypes associated with TGM6 gene from the curated ClinVar Gene-Phenotype Associations dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores | cellular components containing TGM6 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores 2025 | cellular components containing TGM6 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. | |
| COMPARTMENTS Text-mining Protein Localization Evidence Scores | cellular components co-occuring with TGM6 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. | |
| COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 | cellular components co-occuring with TGM6 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. | |
| COSMIC Cell Line Gene CNV Profiles | cell lines with high or low copy number of TGM6 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset. | |
| COSMIC Cell Line Gene Mutation Profiles | cell lines with TGM6 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset. | |
| CTD Gene-Disease Associations | diseases associated with TGM6 gene/protein from the curated CTD Gene-Disease Associations dataset. | |
| dbGAP Gene-Trait Associations | traits associated with TGM6 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 TGM6 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset. | |
| DISEASES Curated Gene-Disease Association Evidence Scores | diseases involving TGM6 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. | |
| DISEASES Curated Gene-Disease Association Evidence Scores 2025 | diseases involving TGM6 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. | |
| DISEASES Experimental Gene-Disease Association Evidence Scores 2025 | diseases associated with TGM6 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 TGM6 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 TGM6 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 TGM6 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. | |
| DisGeNET Gene-Phenotype Associations | phenotypes associated with TGM6 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset. | |
| DrugBank Drug Targets | interacting drugs for TGM6 protein from the curated DrugBank Drug Targets dataset. | |
| ENCODE Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at TGM6 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 TGM6 gene from the ENCODE Transcription Factor Binding Site Profiles dataset. | |
| ENCODE Transcription Factor Targets | transcription factors binding the promoter of TGM6 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 TGM6 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset. | |
| GAD Gene-Disease Associations | diseases associated with TGM6 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. | |
| GeneRIF Biological Term Annotations | biological terms co-occuring with TGM6 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 TGM6 from the GeneSigDB Published Gene Signatures dataset. | |
| GEO Signatures of Differentially Expressed Genes for Gene Perturbations | gene perturbations changing expression of TGM6 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 TGM6 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 TGM6 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 TGM6 gene from the GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations dataset. | |
| GO Biological Process Annotations 2015 | biological processes involving TGM6 gene from the curated GO Biological Process Annotations 2015 dataset. | |
| GO Cellular Component Annotations 2015 | cellular components containing TGM6 protein from the curated GO Cellular Component Annotations 2015 dataset. | |
| GO Molecular Function Annotations 2015 | molecular functions performed by TGM6 gene from the curated GO Molecular Function Annotations 2015 dataset. | |
| GTEx Tissue Gene Expression Profiles | tissues with high or low expression of TGM6 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles dataset. | |
| GWAS Catalog SNP-Phenotype Associations | phenotypes associated with TGM6 gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. | |
| GWASdb SNP-Disease Associations | diseases associated with TGM6 gene in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. | |
| GWASdb SNP-Phenotype Associations | phenotypes associated with TGM6 gene in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. | |
| Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles | cell lines with high or low expression of TGM6 gene relative to other cell lines from the Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles dataset. | |
| HMDB Metabolites of Enzymes | interacting metabolites for TGM6 protein from the curated HMDB Metabolites of Enzymes dataset. | |
| HPA Tissue Protein Expression Profiles | tissues with high or low expression of TGM6 protein relative to other tissues from the HPA Tissue Protein Expression Profiles dataset. | |
| HPO Gene-Disease Associations | phenotypes associated with TGM6 gene by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. | |
| HuGE Navigator Gene-Phenotype Associations | phenotypes associated with TGM6 gene by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. | |
| InterPro Predicted Protein Domain Annotations | protein domains predicted for TGM6 protein from the InterPro Predicted Protein Domain Annotations dataset. | |
| JASPAR Predicted Transcription Factor Targets | transcription factors regulating expression of TGM6 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 TGM6 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 TGM6 gene from the KnockTF Gene Expression Profiles with Transcription Factor Perturbations dataset. | |
| LOCATE Predicted Protein Localization Annotations | cellular components predicted to contain TGM6 protein from the LOCATE Predicted Protein Localization Annotations dataset. | |
| MGI Mouse Phenotype Associations 2023 | phenotypes of transgenic mice caused by TGM6 gene mutations from the MGI Mouse Phenotype Associations 2023 dataset. | |
| MotifMap Predicted Transcription Factor Targets | transcription factors regulating expression of TGM6 gene predicted using known transcription factor binding site motifs from the MotifMap Predicted Transcription Factor Targets dataset. | |
| NURSA Protein Complexes | protein complexs containing TGM6 protein recovered by IP-MS from the NURSA Protein Complexes dataset. | |
| OMIM Gene-Disease Associations | phenotypes associated with TGM6 gene from the curated OMIM Gene-Disease Associations dataset. | |
| PFOCR Pathway Figure Associations 2024 | pathways involving TGM6 protein from the Wikipathways PFOCR 2024 dataset. | |
| Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles | cell types and tissues with high or low DNA methylation of TGM6 gene relative to other cell types and tissues from the Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles dataset. | |
| Roadmap Epigenomics Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at TGM6 gene from the Roadmap Epigenomics Histone Modification Site Profiles dataset. | |
| RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of TGM6 gene from the RummaGEO Drug Perturbation Signatures dataset. | |
| RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of TGM6 gene from the RummaGEO Gene Perturbation Signatures dataset. | |
| TargetScan Predicted Nonconserved microRNA Targets | microRNAs regulating expression of TGM6 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 TGM6 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 TGM6 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset. | |
| TISSUES Curated Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of TGM6 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset. | |
| TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of TGM6 protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 dataset. | |
| TISSUES Text-mining Tissue Protein Expression Evidence Scores | tissues co-occuring with TGM6 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. | |
| TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 | tissues co-occuring with TGM6 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. | |
