TSHZ1 Gene

HGNC Family	Zinc fingers, Homeoboxes
Name	teashirt zinc finger homeobox 1
Description	This gene encodes a colon cancer antigen that was defined by serological analysis of recombinant cDNA expression libraries. The encoded protein is a member of the teashirt C2H2-type zinc-finger protein family and may be involved in transcriptional regulation of developmental processes. Mutations in this gene may be associated with congenital aural atresia syndrome. [provided by RefSeq, Jan 2012]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nTSHZ1 encodes a zinc finger transcription factor that is critical for normal embryogenesis. Its expression is detected early in development, and its loss in mice results in neonatal lethality with multiple malformations, including defects in middle ear structures, soft palate development, and vertebral patterning. Moreover, heterozygous loss‐of‐function mutations in TSHZ1 have been linked to congenital aural atresia in humans, underscoring its essential role in craniofacial and skeletal development."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn the nervous system, TSHZ1 is vital for the development and proper organization of olfactory bulb interneurons. In mice lacking TSHZ1, neuroblasts reach the olfactory bulb but exhibit aberrant radial distribution and impaired maturation, culminating in olfactory bulb hypoplasia and olfactory deficits. Mechanistically, TSHZ1 regulates the expression of key molecules such as PROKR2, linking its activity to pathways implicated in conditions like Kallmann syndrome."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn addition to its developmental roles, TSHZ1 participates in later physiological and pathological processes. It is a direct target of Pdx1 in pancreatic islets, and its expression in insulin‐ and glucagon‐positive cells contributes to β‐cell maturation and the regulation of glucose‐stimulated insulin secretion; reduced TSHZ1 levels are associated with impaired β‐cell function in type 2 diabetes. Furthermore, genetic studies have identified a polymorphism near TSHZ1 that influences the risk of colorectal and endometrial cancers with alleles exerting opposite effects on disease predisposition. Finally, genomic amplifications leading to the overexpression of TSHZ1 have been observed in juvenile angiofibroma, suggesting a role in tumorigenesis potentially linked to developmental malformations of branchial arch derivatives."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "4", "end_ref": "6"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Nathalie Coré, Xavier Caubit, Aïcha Metchat, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Tshz1 is required for axial skeleton, soft palate and middle ear development in mice."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Dev Biol (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ydbio.2007.05.038"}], "href": "https://doi.org/10.1016/j.ydbio.2007.05.038"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17586487"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17586487"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Ilse Feenstra, Lisenka E L M Vissers, Ronald J E Pennings, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Disruption of teashirt zinc finger homeobox 1 is associated with congenital aural atresia in humans."}]}, {"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.2011.11.008"}], "href": "https://doi.org/10.1016/j.ajhg.2011.11.008"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22152683"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22152683"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Daniela Ragancokova, Elena Rocca, Anne M M Oonk, et al. "}, {"type": "b", "children": [{"type": "t", "text": "TSHZ1-dependent gene regulation is essential for olfactory bulb development and olfaction."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Clin Invest (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1172/JCI72466"}], "href": "https://doi.org/10.1172/JCI72466"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24487590"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24487590"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Jeffrey C Raum, Scott A Soleimanpour, David N Groff, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Tshz1 Regulates Pancreatic β-Cell Maturation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Diabetes (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.2337/db14-1443"}], "href": "https://doi.org/10.2337/db14-1443"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25918232"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25918232"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Timothy H T Cheng, Deborah Thompson, Jodie Painter, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Sci Rep (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/srep17369"}], "href": "https://doi.org/10.1038/srep17369"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26621817"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26621817"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Bernhard Schick, Silke Wemmert, Vivienne Willnecker, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genome-wide copy number profiling using a 100K SNP array reveals novel disease-related genes BORIS and TSHZ1 in juvenile angiofibroma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Oncol (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3892/ijo.2011.1166"}], "href": "https://doi.org/10.3892/ijo.2011.1166"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21874228"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21874228"}]}]}]}
Synonyms	CAA, NY-CO-33, SDCCAG33
Proteins	TSH1_HUMAN
NCBI Gene ID	10194
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

TSHZ1 has 5,379 functional associations with biological entities spanning 9 categories (molecular profile, organism, disease, phenotype or trait, functional term, phrase or reference, chemical, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 111 datasets.

Click the + buttons to view associations for TSHZ1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

TSHZ1 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 TSHZ1 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 TSHZ1 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 TSHZ1 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 TSHZ1 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 TSHZ1 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 TSHZ1 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 TSHZ1 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 TSHZ1 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 TSHZ1 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 TSHZ1 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 TSHZ1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with TSHZ1 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 TSHZ1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of TSHZ1 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 TSHZ1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with TSHZ1 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing TSHZ1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing TSHZ1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing TSHZ1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing TSHZ1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with TSHZ1 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 TSHZ1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with TSHZ1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with TSHZ1 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with TSHZ1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by TSHZ1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving TSHZ1 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with TSHZ1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with TSHZ1 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 TSHZ1 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 TSHZ1 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 TSHZ1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with TSHZ1 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 TSHZ1 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 TSHZ1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of TSHZ1 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 TSHZ1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with TSHZ1 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
	GeneRIF Biological Term Annotations	biological terms co-occuring with TSHZ1 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 TSHZ1 from the GeneSigDB Published Gene Signatures dataset.