| HGNC Family | T-boxes (TBX) |
| Name | T-box 6 |
| Description | This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. Knockout studies in mice indicate that this gene is important for specification of paraxial mesoderm structures. [provided by RefSeq, Aug 2008] |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nTBX6 is a member of the T‐box transcription factor family that plays a pivotal role during embryonic development. In particular, TBX6 is essential for establishing paraxial mesoderm identity and orchestrating somitogenesis—the process by which somites, the segmented precursors to the vertebral column and ribs, are formed. Studies using animal models have revealed that appropriate TBX6 activity ensures proper segmentation and patterning of vertebral precursor tissues, with its transcriptional output being modulated by interactions with other T‐box family members (for example, TBX18 can repress TBX6‐mediated activation of downstream targets such as Delta‐like 1). Notably, while one study investigating sporadic congenital vertebral malformations did not detect TBX6 variants, the overall body of developmental evidence emphasizes its indispensable role in axial skeleton formation."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "4"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn human genetic studies the involvement of TBX6 has been underscored by the discovery of pathogenic variants underlying a spectrum of congenital vertebral malformations—including congenital scoliosis (CS) and spondylocostal dysostosis (SCD). Multiple investigations have demonstrated that a “compound inheritance” model—typically combining a rare null or deleterious missense mutation with a common hypomorphic allele—diminishes TBX6 gene dosage below a critical threshold, thereby impairing proper somite segmentation. Exome‐sequencing and functional in vitro studies, in both patient cohorts and corresponding mouse models, have identified stop–loss mutations, splice variants, and loss‐of‐function alleles that compromise TBX6 transcriptional activity and disrupt downstream developmental signaling. Moreover, case–control analyses in various populations further support the association of TBX6 dosage insufficiency with vertebral patterning defects and variable clinical expressivity."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "5", "end_ref": "14"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nBeyond its well‐established role in axial skeleton development, emerging evidence implicates TBX6 in the pathogenesis of malformations affecting other organ systems. Several investigations have linked TBX6 variants—not only coding mutations but also noncoding changes that alter splicing efficiency—to congenital anomalies of the kidney and urinary tract as well as to malformations of the müllerian ducts. Although early studies in certain cohorts did not reveal TBX6 as a major susceptibility gene for such anomalies, more recent analyses have uncovered rare, potentially pathogenic variants that compromise TBX6 expression and function, suggesting that altered TBX6 dosage may contribute to a broader spectrum of developmental disorders."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "15", "end_ref": "21"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Henner F Farin, Markus Bussen, Martina K Schmidt, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Transcriptional repression by the T-box proteins Tbx18 and Tbx15 depends on Groucho corepressors."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M703724200"}], "href": "https://doi.org/10.1074/jbc.M703724200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17584735"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17584735"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Nader Ghebranious, Robert D Blank, Cathleen L Raggio, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A missense T (Brachyury) mutation contributes to vertebral malformations."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Bone Miner Res (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1359/jbmr.080503"}], "href": "https://doi.org/10.1359/jbmr.080503"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18466071"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18466071"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Weisheng Chen, Jiaqi Liu, Dongtang Yuan, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "TBX6 as a cause of a combined skeletal-kidney dysplasia syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Med Genet A (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ajmg.a.62972"}], "href": "https://doi.org/10.1002/ajmg.a.62972"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "36161696"}], "href": "https://pubmed.ncbi.nlm.nih.gov/36161696"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Qi Fei, Zhihong Wu, Hai Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The association analysis of TBX6 polymorphism with susceptibility to congenital scoliosis in a Chinese Han population."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Spine (Phila Pa 1976) (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1097/BRS.0b013e3181bc963c"}], "href": "https://doi.org/10.1097/BRS.0b013e3181bc963c"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20228709"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20228709"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Duncan B Sparrow, Aideen McInerney-Leo, Zoran S Gucev, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "Autosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Clin Genet (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/cge.12918"}], "href": "https://doi.org/10.1111/cge.12918"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27861764"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27861764"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Kazuki Takeda, Ikuyo Kou, Noriaki Kawakami, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Compound Heterozygosity for Null Mutations and a Common Hypomorphic Risk Haplotype in TBX6 Causes Congenital Scoliosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mutat (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/humu.23168"}], "href": "https://doi.org/10.1002/humu.23168"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28054739"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28054739"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Qiankun Zhu, Nan Wu, Gang Liu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Comparative analysis of serum proteome in congenital scoliosis patients with TBX6 haploinsufficiency - a first report pointing to lipid metabolism."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Mol Med (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/jcmm.13341"}], "href": "https://doi.org/10.1111/jcmm.13341"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28944995"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28944995"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Nan Yang, Nan Wu, Ling Zhang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "TBX6 compound inheritance leads to congenital vertebral malformations in humans and mice."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddy358"}], "href": "https://doi.org/10.1093/hmg/ddy358"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30307510"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30307510"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Jiaqi Liu, Nan Wu, Nan Yang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genet Med (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41436-018-0377-x"}], "href": "https://doi.org/10.1038/s41436-018-0377-x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30636772"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30636772"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "Weisheng Chen, Jiachen Lin, Lianlei Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mutat (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/humu.23907"}], "href": "https://doi.org/10.1002/humu.23907"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31471994"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31471994"}]}, {"type": "r", "ref": 14, "children": [{"type": "t", "text": "Xin Feng, Jason Pui Yin Cheung, Jimmy S H Je, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genetic variants of TBX6 and TBXT identified in patients with congenital scoliosis in Southern China."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Orthop Res (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/jor.24805"}], "href": "https://doi.org/10.1002/jor.24805"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32672867"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32672867"}]}, {"type": "r", "ref": 15, "children": [{"type": "t", "text": "Maria Sandbacka, Hannele Laivuori, Érika Freitas, et al. "}, {"type": "b", "children": [{"type": "t", "text": "TBX6, LHX1 and copy number variations in the complex genetics of Müllerian aplasia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Orphanet J Rare Dis (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/1750-1172-8-125"}], "href": "https://doi.org/10.1186/1750-1172-8-125"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23954021"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23954021"}]}, {"type": "r", "ref": 16, "children": [{"type": "t", "text": "Ann-Christin Tewes, Kristin Katharina Rall, Thomas Römer, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Variations in RBM8A and TBX6 are associated with disorders of the müllerian ducts."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Fertil Steril (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.fertnstert.2015.02.014"}], "href": "https://doi.org/10.1016/j.fertnstert.2015.02.014"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25813282"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25813282"}]}, {"type": "r", "ref": 17, "children": [{"type": "t", "text": "Shuangshuang Dong, Chunyan Wang, Xueping Li, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Noncoding rare variants of TBX6 in congenital anomalies of the kidney and urinary tract."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Genet Genomics (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00438-018-1522-6"}], "href": "https://doi.org/10.1007/s00438-018-1522-6"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30604070"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30604070"}]}, {"type": "r", "ref": 18, "children": [{"type": "t", "text": "Ann-Christin Tewes, Jürgen Hucke, Thomas Römer, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Sequence Variants in TBX6 Are Associated with Disorders of the Müllerian Ducts: An Update."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Sex Dev (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1159/000496819"}], "href": "https://doi.org/10.1159/000496819"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30739119"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30739119"}]}, {"type": "r", "ref": 19, "children": [{"type": "t", "text": "Nao Otomo, Kazuki Takeda, Shunsuke Kawai, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Bi-allelic loss of function variants of "}, {"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "TBX6"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": " causes a spectrum of malformation of spine and rib including congenital scoliosis and spondylocostal dysostosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Med Genet (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1136/jmedgenet-2018-105920"}], "href": "https://doi.org/10.1136/jmedgenet-2018-105920"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31015262"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31015262"}]}, {"type": "r", "ref": 20, "children": [{"type": "t", "text": "Xiaojun Ren, Nan Yang, Nan Wu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Increased "}, {"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "TBX6"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": " gene dosages induce congenital cervical vertebral malformations in humans and mice."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Med Genet (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1136/jmedgenet-2019-106333"}], "href": "https://doi.org/10.1136/jmedgenet-2019-106333"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31888956"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31888956"}]}, {"type": "r", "ref": 21, "children": [{"type": "t", "text": "Congcong Ma, Na Chen, Angad Jolly, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genet Med (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.gim.2022.08.012"}], "href": "https://doi.org/10.1016/j.gim.2022.08.012"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "36112137"}], "href": "https://pubmed.ncbi.nlm.nih.gov/36112137"}]}]}]}
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| Synonyms | SCDO5 |
| Proteins | TBX6_HUMAN |
| NCBI Gene ID | 6911 |
| 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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TBX6 has 6,312 functional associations with biological entities spanning 9 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, sequence feature) extracted from 108 datasets.
Click the + buttons to view associations for TBX6 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 TBX6 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset. | |
| Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles | tissues with high or low expression of TBX6 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 TBX6 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 TBX6 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 TBX6 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 TBX6 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset. | |
| BioGPS Cell Line Gene Expression Profiles | cell lines with high or low expression of TBX6 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset. | |
| BioGPS Human Cell Type and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of TBX6 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 TBX6 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset. | |
| Carcinogenome Chemical Perturbation Carcinogenicity Signatures | small molecule perturbations changing expression of TBX6 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset. | |
| CCLE Cell Line Gene CNV Profiles | cell lines with high or low copy number of TBX6 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 TBX6 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset. | |
| CellMarker Gene-Cell Type Associations | cell types associated with TBX6 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 TBX6 gene from the CHEA Transcription Factor Binding Site Profiles dataset. | |
| ChEA Transcription Factor Targets | transcription factors binding the promoter of TBX6 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset. | |
| ChEA Transcription Factor Targets 2022 | transcription factors binding the promoter of TBX6 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset. | |
| ClinVar Gene-Phenotype Associations | phenotypes associated with TBX6 gene from the curated ClinVar Gene-Phenotype Associations dataset. | |
| ClinVar Gene-Phenotype Associations 2025 | phenotypes associated with TBX6 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset. | |
| CM4AI KOLF21J CRISPRi Gene Perturbation Atlas | gene perturbations changing expression of TBX6 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset. | |
| CMAP Signatures of Differentially Expressed Genes for Small Molecules | small molecule perturbations changing expression of TBX6 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores | cellular components containing TBX6 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores 2025 | cellular components containing TBX6 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. | |
| COMPARTMENTS Text-mining Protein Localization Evidence Scores | cellular components co-occuring with TBX6 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 TBX6 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 TBX6 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset. | |
| COSMIC Cell Line Gene Mutation Profiles | cell lines with TBX6 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset. | |
| CTD Gene-Chemical Interactions | chemicals interacting with TBX6 gene/protein from the curated CTD Gene-Chemical Interactions dataset. | |
| CTD Gene-Disease Associations | diseases associated with TBX6 gene/protein from the curated CTD Gene-Disease Associations dataset. | |
| DepMap CRISPR Gene Dependency | cell lines with fitness changed by TBX6 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset. | |
| DISEASES Curated Gene-Disease Association Evidence Scores 2025 | diseases involving TBX6 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. | |
| DISEASES Experimental Gene-Disease Association Evidence Scores 2025 | diseases associated with TBX6 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 TBX6 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 TBX6 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 TBX6 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. | |
| DisGeNET Gene-Phenotype Associations | phenotypes associated with TBX6 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 TBX6 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 TBX6 gene from the ENCODE Transcription Factor Binding Site Profiles dataset. | |
| ENCODE Transcription Factor Targets | transcription factors binding the promoter of TBX6 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 TBX6 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset. | |
| GAD Gene-Disease Associations | diseases associated with TBX6 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. | |
| GAD High Level Gene-Disease Associations | diseases associated with TBX6 gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset. | |
| GDSC Cell Line Gene Expression Profiles | cell lines with high or low expression of TBX6 gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset. | |
| GeneRIF Biological Term Annotations | biological terms co-occuring with TBX6 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 TBX6 from the GeneSigDB Published Gene Signatures dataset. | |
| GEO Signatures of Differentially Expressed Genes for Diseases | disease perturbations changing expression of TBX6 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 TBX6 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 TBX6 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 TBX6 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 TBX6 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 TBX6 gene from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset. | |
| GO Biological Process Annotations 2015 | biological processes involving TBX6 gene from the curated GO Biological Process Annotations 2015 dataset. | |
| GO Biological Process Annotations 2023 | biological processes involving TBX6 gene from the curated GO Biological Process Annotations 2023 dataset. | |
| GO Biological Process Annotations 2025 | biological processes involving TBX6 gene from the curated GO Biological Process Annotations2025 dataset. | |
| GO Cellular Component Annotations 2015 | cellular components containing TBX6 protein from the curated GO Cellular Component Annotations 2015 dataset. | |
| GO Cellular Component Annotations 2025 | cellular components containing TBX6 protein from the curated GO Cellular Component Annotations 2025 dataset. | |
| GO Molecular Function Annotations 2015 | molecular functions performed by TBX6 gene from the curated GO Molecular Function Annotations 2015 dataset. | |
| GO Molecular Function Annotations 2023 | molecular functions performed by TBX6 gene from the curated GO Molecular Function Annotations 2023 dataset. | |
| GO Molecular Function Annotations 2025 | molecular functions performed by TBX6 gene from the curated GO Molecular Function Annotations 2025 dataset. | |
| GTEx eQTL 2025 | SNPs regulating expression of TBX6 gene from the GTEx eQTL 2025 dataset. | |
| GTEx Tissue Gene Expression Profiles | tissues with high or low expression of TBX6 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles dataset. | |
| GTEx Tissue Gene Expression Profiles 2023 | tissues with high or low expression of TBX6 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset. | |
| GTEx Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of TBX6 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 TBX6 gene relative to other tissue samples from the GTEx Tissue-Specific Aging Signatures dataset. | |
| GWAS Catalog SNP-Phenotype Associations 2025 | phenotypes associated with TBX6 gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. | |
| Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles | cell lines with high or low expression of TBX6 gene relative to other cell lines from the Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles dataset. | |
| HPA Cell Line Gene Expression Profiles | cell lines with high or low expression of TBX6 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 TBX6 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 TBX6 gene relative to other tissue samples from the HPA Tissue Sample Gene Expression Profiles dataset. | |
| HPO Gene-Disease Associations | phenotypes associated with TBX6 gene by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. | |
| HuGE Navigator Gene-Phenotype Associations | phenotypes associated with TBX6 gene by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. | |
| InterPro Predicted Protein Domain Annotations | protein domains predicted for TBX6 protein from the InterPro Predicted Protein Domain Annotations dataset. | |
| JASPAR Predicted Human Transcription Factor Targets 2025 | transcription factors regulating expression of TBX6 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Human Transcription Factor Targets dataset. | |
| JASPAR Predicted Mouse Transcription Factor Targets 2025 | transcription factors regulating expression of TBX6 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset. | |
| JASPAR Predicted Transcription Factor Targets | transcription factors regulating expression of TBX6 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 TBX6 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 TBX6 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 TBX6 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 TBX6 gene from the KnockTF Gene Expression Profiles with Transcription Factor Perturbations dataset. | |
| LINCS L1000 CMAP Chemical Perturbation Consensus Signatures | small molecule perturbations changing expression of TBX6 gene from the LINCS L1000 CMAP Chemical Perturbations Consensus Signatures dataset. | |
| LOCATE Curated Protein Localization Annotations | cellular components containing TBX6 protein in low- or high-throughput protein localization assays from the LOCATE Curated Protein Localization Annotations dataset. | |
| LOCATE Predicted Protein Localization Annotations | cellular components predicted to contain TBX6 protein from the LOCATE Predicted Protein Localization Annotations dataset. | |
| MGI Mouse Phenotype Associations 2023 | phenotypes of transgenic mice caused by TBX6 gene mutations from the MGI Mouse Phenotype Associations 2023 dataset. | |
| MotifMap Predicted Transcription Factor Targets | transcription factors regulating expression of TBX6 gene predicted using known transcription factor binding site motifs from the MotifMap Predicted Transcription Factor Targets dataset. | |
| MPO Gene-Phenotype Associations | phenotypes of transgenic mice caused by TBX6 gene mutations from the MPO Gene-Phenotype Associations dataset. | |
| MSigDB Signatures of Differentially Expressed Genes for Cancer Gene Perturbations | gene perturbations changing expression of TBX6 gene from the MSigDB Signatures of Differentially Expressed Genes for Cancer Gene Perturbations dataset. | |
| OMIM Gene-Disease Associations | phenotypes associated with TBX6 gene from the curated OMIM Gene-Disease Associations dataset. | |
| Pathway Commons Protein-Protein Interactions | interacting proteins for TBX6 from the Pathway Commons Protein-Protein Interactions dataset. | |
| PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations | gene perturbations changing expression of TBX6 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 TBX6 gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
| PFOCR Pathway Figure Associations 2023 | pathways involving TBX6 protein from the PFOCR Pathway Figure Associations 2023 dataset. | |
| PFOCR Pathway Figure Associations 2024 | pathways involving TBX6 protein from the Wikipathways PFOCR 2024 dataset. | |
| Reactome Pathways 2024 | pathways involving TBX6 protein from the Reactome Pathways 2024 dataset. | |
| Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles | cell types and tissues with high or low DNA methylation of TBX6 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 TBX6 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 TBX6 gene from the Roadmap Epigenomics Histone Modification Site Profiles dataset. | |
| Rummagene Transcription Factor Associations 2026 | transcription factors regulating expression of TBX6 gene from the Rummagene Transcription Factor Associations 2026 dataset. | |
| RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of TBX6 gene from the RummaGEO Drug Perturbation Signatures dataset. | |
| RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of TBX6 gene from the RummaGEO Gene Perturbation Signatures dataset. | |
| Tabula Sapiens Gene-Cell Associations | cell types with high or low expression of TBX6 gene relative to other cell types from the Tabula Sapiens Gene-Cell Associations dataset. | |
| TargetScan Predicted Conserved microRNA Targets | microRNAs regulating expression of TBX6 gene predicted using conserved miRNA seed sequences from the TargetScan Predicted Conserved microRNA Targets dataset. | |
| TargetScan Predicted Nonconserved microRNA Targets | microRNAs regulating expression of TBX6 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 TBX6 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 TBX6 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset. | |
| TISSUES Curated Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of TBX6 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset. | |
| TISSUES Text-mining Tissue Protein Expression Evidence Scores | tissues co-occuring with TBX6 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 TBX6 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. | |
| WikiPathways Pathways 2014 | pathways involving TBX6 protein from the Wikipathways Pathways 2014 dataset. | |
| WikiPathways Pathways 2024 | pathways involving TBX6 protein from the WikiPathways Pathways 2024 dataset. | |