JAZF1 Gene

HGNC Family	Zinc fingers
Name	JAZF zinc finger 1
Description	This gene encodes a nuclear protein with three C2H2-type zinc fingers, and functions as a transcriptional repressor. Chromosomal aberrations involving this gene are associated with endometrial stromal tumors. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized [provided by RefSeq, Jul 2008]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Variants and rearrangements involving the JAZF1 gene have been implicated in a range of biological processes, spanning metabolic regulation, autoimmunity, development, and tumorigenesis. Genome‐wide association studies have consistently identified JAZF1 as a susceptibility locus for type 2 diabetes mellitus, with risk alleles modestly impairing pancreatic beta‐cell function and insulin secretion (for example."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "4"}]}, {"type": "t", "text": " In addition, associations with autoimmune diseases such as systemic lupus erythematosus and even rheumatoid arthritis have been reported, suggesting that JAZF1 may also influence immunologic pathways."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "5", "end_ref": "7"}]}, {"type": "t", "text": " Beyond its role in metabolism and immunity, JAZF1 functions as a transcriptional repressor; notably, its involvement in oncogenic rearrangements has been documented in endometrial stromal neoplasms, where fusion transcripts (most commonly JAZF1‐JJAZ1) are generated either by chromosomal translocation or by physiologic trans‐splicing, resulting in proteins with anti‐apoptotic properties."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "8", "end_ref": "10"}]}, {"type": "t", "text": " Furthermore, independent genome‐wide analyses have implicated JAZF1 in the regulation of human growth, with specific single nucleotide polymorphisms in the gene correlating with adult stature"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "11"}]}, {"type": "t", "text": ", thereby underscoring its diverse role in developmental physiology. Finally, additional studies in diverse populations have supported JAZF1’s association with type 2 diabetes, confirming its role across ethnic groups."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "12"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Eleftheria Zeggini, Laura J Scott, Richa Saxena, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.120"}], "href": "https://doi.org/10.1038/ng.120"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18372903"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18372903"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Valeriya Lyssenko, Anna Jonsson, Peter Almgren, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Clinical risk factors, DNA variants, and the development of type 2 diabetes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "N Engl J Med (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1056/NEJMoa0801869"}], "href": "https://doi.org/10.1056/NEJMoa0801869"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19020324"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19020324"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Mandy van Hoek, Abbas Dehghan, Jacqueline C M Witteman, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Predicting type 2 diabetes based on polymorphisms from genome-wide association studies: a population-based study."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Diabetes (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.2337/db08-0425"}], "href": "https://doi.org/10.2337/db08-0425"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18694974"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18694974"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Niels Grarup, Gitte Andersen, Nikolaj T Krarup, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Association testing of novel type 2 diabetes risk alleles in the JAZF1, CDC123/CAMK1D, TSPAN8, THADA, ADAMTS9, and NOTCH2 loci with insulin release, insulin sensitivity, and obesity in a population-based sample of 4,516 glucose-tolerant middle-aged Danes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Diabetes (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.2337/db08-0436"}], "href": "https://doi.org/10.2337/db08-0436"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18567820"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18567820"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Vesela Gateva, Johanna K Sandling, Geoff Hom, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.468"}], "href": "https://doi.org/10.1038/ng.468"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19838195"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19838195"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Gisela Orozco, Steve Eyre, Anne Hinks, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Study of the common genetic background for rheumatoid arthritis and systemic lupus erythematosus."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Ann Rheum Dis (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1136/ard.2010.137174"}], "href": "https://doi.org/10.1136/ard.2010.137174"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21068098"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21068098"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Jose-Ezequiel Martin, Shervin Assassi, Lina-Marcela Diaz-Gallo, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddt248"}], "href": "https://doi.org/10.1093/hmg/ddt248"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23740937"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23740937"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Gilles Thomas, Kevin B Jacobs, Meredith Yeager, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Multiple loci identified in a genome-wide association study of prostate cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.91"}], "href": "https://doi.org/10.1038/ng.91"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18264096"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18264096"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Hui Li, Jinglan Wang, Gil Mor, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A neoplastic gene fusion mimics trans-splicing of RNAs in normal human cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Science (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1126/science.1156725"}], "href": "https://doi.org/10.1126/science.1156725"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18772439"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18772439"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Marisa R Nucci, David Harburger, Jason Koontz, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Molecular analysis of the JAZF1-JJAZ1 gene fusion by RT-PCR and fluorescence in situ hybridization in endometrial stromal neoplasms."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Surg Pathol (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1097/01.pas.0000213327.86992.d1"}], "href": "https://doi.org/10.1097/01.pas.0000213327.86992.d1"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17197920"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17197920"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Nicole Soranzo, Fernando Rivadeneira, Usha Chinappen-Horsley, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS Genet (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pgen.1000445"}], "href": "https://doi.org/10.1371/journal.pgen.1000445"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19343178"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19343178"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Marco Alberto Gamboa-Meléndez, Alicia Huerta-Chagoya, Hortensia Moreno-Macías, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Contribution of common genetic variation to the risk of type 2 diabetes in the Mexican Mestizo population."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Diabetes (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.2337/db11-0550"}], "href": "https://doi.org/10.2337/db11-0550"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22923468"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22923468"}]}]}]}
Synonyms	TIP27, ZNF802
Proteins	JAZF1_HUMAN
NCBI Gene ID	221895
API
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

JAZF1 has 5,322 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 111 datasets.

Click the + buttons to view associations for JAZF1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

JAZF1 Gene

Functional Associations

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

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of JAZF1 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 JAZF1 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 JAZF1 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 JAZF1 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 JAZF1 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 JAZF1 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 JAZF1 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 JAZF1 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 JAZF1 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 JAZF1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Gene Mutation Profiles	cell lines with JAZF1 gene mutations from the CCLE Cell Line Gene Mutation Profiles dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with JAZF1 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 JAZF1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of JAZF1 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 JAZF1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing JAZF1 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 JAZF1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing JAZF1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing JAZF1 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 JAZF1 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	cellular components co-occuring with JAZF1 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 JAZF1 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 JAZF1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with JAZF1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with JAZF1 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with JAZF1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with JAZF1 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 JAZF1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving JAZF1 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving JAZF1 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with JAZF1 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 JAZF1 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 JAZF1 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 JAZF1 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 JAZF1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with JAZF1 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 JAZF1 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 JAZF1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of JAZF1 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 JAZF1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.