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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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JAZF1
JAZF zinc finger 1
Chromosome 7 · 7p15.2-p15.1
NCBI Gene: 221895Ensembl: ENSG00000153814.14HGNC: HGNC:28917UniProt: Q86VZ6
112PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
OncogeneTranscription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
transcription repressor complextranscription corepressor activityprotein bindingnegative regulation of transcription by RNA polymerase IItype 2 diabetes mellitusdiabetes mellitusasthmaAbnormality of the skeletal system
✦AI Summary

JAZF1 is a transcriptional corepressor that plays critical roles in metabolic regulation and cell differentiation. As a component of the NuA4/TIP60 complex, JAZF1 functions as a corepressor of nuclear receptor TR4, suppressing transcriptional activation through stabilization of an autorepressed conformation 1. JAZF1 regulates glucose and lipid homeostasis by repressing gluconeogenic genes and modulating expression of metabolic regulators like HNF4α 2. In endometrial stromal cells, JAZF1 safeguards cell survival and decidualization by transcriptionally repressing G0S2 through interaction with the G0S2 activator Purβ 3. The protein influences PRC2 chr7 remodeling complex function; the pathogenic JAZF1-SUZ12 fusion in low-grade endometrial stromal sarcoma dysregulates PRC2 composition and genome occupancy, altering H3K27me3 deposition and gene expression patterns critical for cell differentiation 4. JAZF1 knockout mice exhibit growth retardation, altered body composition, and muscle insulin resistance mediated through the GH-IGF-1 axis 2. Clinically, JAZF1 polymorphisms are associated with type 2 diabetes susceptibility 5, while JAZF1-SUZ12 fusions occur in approximately 50-75% of low-grade endometrial stromal neoplasms, serving as a diagnostic marker 6. Downregulation of JAZF1 in recurrent spontaneous abortion decidua correlates with defective decidualization and pregnancy loss 3.

Sources cited
1
JAZF1 binds TR4 and suppresses transcriptional activation by stabilizing an autorepressed conformation
PMID: 36651297
2
JAZF1 knockout mice show growth retardation, altered body composition, insulin resistance, and reduced HNF4α and IGF-1 expression
PMID: 36442127
3
JAZF1 represses G0S2 transcription to maintain endometrial stromal cell survival and decidualization; downregulation correlates with recurrent spontaneous abortion
PMID: 37244968
4
JAZF1-SUZ12 fusion dysregulates PRC2 composition, genome occupancy, H3K27me3, and gene expression during cell differentiation
PMID: 35649353
5
JAZF1 polymorphisms are associated with type 2 diabetes mellitus susceptibility and functions in glucose and lipid homeostasis
PMID: 30838734
6
JAZF1-SUZ12 fusion is the most frequent genetic alteration in endometrial stromal neoplasms, present in ~75% of benign nodules and ~50% of low-grade sarcomas
PMID: 26879382
Disease Associationsⓘ20
type 2 diabetes mellitusOpen Targets
0.57Moderate
diabetes mellitusOpen Targets
0.55Moderate
asthmaOpen Targets
0.53Moderate
Abnormality of the skeletal systemOpen Targets
0.53Moderate
osteoarthritis, hipOpen Targets
0.50Moderate
prostate carcinomaOpen Targets
0.49Moderate
neurodegenerative diseaseOpen Targets
0.49Moderate
diabetic neuropathyOpen Targets
0.48Moderate
skin cancerOpen Targets
0.47Moderate
Crohn's diseaseOpen Targets
0.47Moderate
skin neoplasmOpen Targets
0.47Moderate
systemic lupus erythematosusOpen Targets
0.47Moderate
hair colorOpen Targets
0.46Moderate
allergic rhinitisOpen Targets
0.46Moderate
diabetic retinopathyOpen Targets
0.46Moderate
psoriasisOpen Targets
0.45Moderate
basal cell carcinomaOpen Targets
0.45Moderate
diverticular diseaseOpen Targets
0.45Moderate
Alzheimer diseaseOpen Targets
0.45Moderate
respiratory system diseaseOpen Targets
0.44Moderate
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
KAT5Protein interaction100%EP400Protein interaction100%TRRAPProtein interaction100%NR2C2Protein interaction99%SUZ12Protein interaction94%SYMPKProtein interaction86%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
98%
Heart
94%
Ovary
43%
Lung
37%
Liver
27%
Gene Interaction Network
Click a node to explore
JAZF1KAT5EP400TRRAPNR2C2SUZ12SYMPK
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q86VZ6
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.44Moderately Constrained
pLIⓘ
0.99Intolerant
Observed/Expected LoF0.19 [0.09–0.44]
RankingsWhere JAZF1 stands among ~20K protein-coding genes
  • #4,232of 20,598
    Most Researched112 · top quartile
  • #2,385of 17,882
    Most Constrained (LOEUF)0.44 · top quartile
Genes detectedJAZF1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Endometrial stromal tumors of the uterus: Epidemiology, pathological and biological features, treatment options and clinical outcomes.
PMID: 36842409
Gynecol Oncol · 2023
1.00
2
JAZF1-SUZ12 dysregulates PRC2 function and gene expression during cell differentiation.
PMID: 35649353
Cell Rep · 2022
0.90
3
Deletion of
PMID: 36442127
Proc Natl Acad Sci U S A · 2022
0.80
4
JAZF1 safeguards human endometrial stromal cells survival and decidualization by repressing the transcription of G0S2.
PMID: 37244968
Commun Biol · 2023
0.70
5
Structures of human TR4LBD-JAZF1 and TR4DBD-DNA complexes reveal the molecular basis of transcriptional regulation.
PMID: 36651297
Nucleic Acids Res · 2023
0.60