TSHZ3 Gene

HGNC Family	Zinc fingers, Homeoboxes
Name	teashirt zinc finger homeobox 3
Description	This gene encodes a zinc-finger transcription factor that regulates smooth muscle cell differentiation in the developing urinary tract. Consistent with this role, mice in which this gene has been inactivated exhibit abnormal gene expression in urinary tract smooth muscle cell precursors and kidney defects including hydronephrosis. The encoded transcription factor comprises a gene silencing complex that inhibits caspase expression. Reduced expression of this gene and consequent caspase upregulation may be correlated with progression of Alzheimer's disease in human patients. [provided by RefSeq, Jul 2016]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nRecent studies have identified TSHZ3 as a critical zinc‐finger transcription factor involved in the development and function of cerebral cortical projection neurons. Heterozygous deletions or haploinsufficiency of TSHZ3 result in profound molecular and synaptic alterations in these neurons and have been directly linked to an autism spectrum disorder syndrome. These findings underscore that precise TSHZ3 dosage is essential for proper neocortical formation and function."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn addition to its role in neurodevelopment, TSHZ3 has been implicated in the modulation of tumor cell behavior. In high-grade gliomas, miR-338-5p targets TSHZ3 leading to its downregulation, which in turn results in the upregulation of the pro-invasive protease MMP2 and enhanced invasiveness of glioma cells. Complementary epigenetic analyses in breast and prostate cancers have also included TSHZ3 among candidate genes that are normally expressed in epithelial cells but become frequently silenced via promoter hypermethylation, suggesting that altered TSHZ3 expression may contribute to tumorigenesis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nTSHZ3 is further essential for the proper differentiation of smooth muscle cells in the urinary tract. In mouse models, null mutations in Tshz3 lead to congenital pelvi-ureteric junction obstruction characterized by defective smooth muscle differentiation and absent peristalsis in the proximal ureter. Mechanistic studies have revealed that TSHZ3 interacts with regulators such as SOX9 and MYOCD, thereby modulating the transcriptional activation of smooth muscle-specific genes. These findings are supported by expression analyses in human samples, which indicate that dysregulation of TSHZ3 in the ureteric mesenchyme is associated with hydronephrosis and other urinary tract malformations."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "5", "end_ref": "8"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Xavier Caubit, Paolo Gubellini, Joris Andrieux, et al. "}, {"type": "b", "children": [{"type": "t", "text": "TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.3681"}], "href": "https://doi.org/10.1038/ng.3681"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27668656"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27668656"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Dorian Chabbert, Xavier Caubit, Pierre L Roubertoux, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Postnatal Tshz3 Deletion Drives Altered Corticostriatal Function and Autism Spectrum Disorder-like Behavior."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biol Psychiatry (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.biopsych.2019.03.974"}], "href": "https://doi.org/10.1016/j.biopsych.2019.03.974"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31060802"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31060802"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Yanyan Li, Yulun Huang, Zhenyu Qi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "MiR-338-5p Promotes Glioma Cell Invasion by Regulating TSHZ3 and MMP2."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Mol Neurobiol (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s10571-017-0525-x"}], "href": "https://doi.org/10.1007/s10571-017-0525-x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28780604"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28780604"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Miyako Yamamoto, Emili Cid, Samuel Bru, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Rare and frequent promoter methylation, respectively, of TSHZ2 and 3 genes that are both downregulated in expression in breast and prostate cancers."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0017149"}], "href": "https://doi.org/10.1371/journal.pone.0017149"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21423795"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21423795"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Dagan Jenkins, Xavier Caubit, Aleksandar Dimovski, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Analysis of TSHZ2 and TSHZ3 genes in congenital pelvi-ureteric junction obstruction."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nephrol Dial Transplant (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/ndt/gfp453"}], "href": "https://doi.org/10.1093/ndt/gfp453"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19745106"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19745106"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Elise Martin, Xavier Caubit, Rannar Airik, et al. "}, {"type": "b", "children": [{"type": "t", "text": "TSHZ3 and SOX9 regulate the timing of smooth muscle cell differentiation in the ureter by reducing myocardin activity."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0063721"}], "href": "https://doi.org/10.1371/journal.pone.0063721"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23671695"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23671695"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Hui Chen, Hong-Ying Ji, Yi Yang "}, {"type": "b", "children": [{"type": "t", "text": "The Expression of Gli3 and Teashirt3 in the Stenotic Tissue of Congenital Pelvi-Ureteric Junction Obstruction in Children."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Med Sci (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.7150/ijms.14880"}], "href": "https://doi.org/10.7150/ijms.14880"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27279789"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27279789"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Omer Yilmaz, Nalan Nese, Mustafa Dalgic, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Sonic hedgehog, TBX18, and TSHZ3 proteins involved in pyeloureteral motility development are overexpressed in ureteropelvic junction obstruction. An immunohistochemical, histopathological, and clinical comparative study."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Saudi Med J (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.15537/smj.2016.7.14789"}], "href": "https://doi.org/10.15537/smj.2016.7.14789"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27381532"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27381532"}]}]}]}
Synonyms	ZNF537, TSH3
Proteins	TSH3_HUMAN
NCBI Gene ID	57616
API
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

TSHZ3 has 4,607 functional associations with biological entities spanning 9 categories (molecular profile, organism, functional term, phrase or reference, chemical, disease, phenotype or trait, 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 TSHZ3 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

TSHZ3 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Achilles Cell Line Gene Essentiality Profiles	cell lines with fitness changed by TSHZ3 gene knockdown relative to other cell lines from the Achilles Cell Line Gene Essentiality Profiles dataset.
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of TSHZ3 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 TSHZ3 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 TSHZ3 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 TSHZ3 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 TSHZ3 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 TSHZ3 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 TSHZ3 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 TSHZ3 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 TSHZ3 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with TSHZ3 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 TSHZ3 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of TSHZ3 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 TSHZ3 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	CM4AI KOLF21J CRISPRi Gene Perturbation Atlas	gene perturbations changing expression of TSHZ3 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing TSHZ3 protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing TSHZ3 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing TSHZ3 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing TSHZ3 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with TSHZ3 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 TSHZ3 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	CORUM Protein Complexes	protein complexs containing TSHZ3 protein from the CORUM Protein Complexes dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of TSHZ3 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with TSHZ3 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with TSHZ3 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with TSHZ3 gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with TSHZ3 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 TSHZ3 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 TSHZ3 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 TSHZ3 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 TSHZ3 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 TSHZ3 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with TSHZ3 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 TSHZ3 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 TSHZ3 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of TSHZ3 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 TSHZ3 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with TSHZ3 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
	GeneRIF Biological Term Annotations	biological terms co-occuring with TSHZ3 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 TSHZ3 from the GeneSigDB Published Gene Signatures dataset.