JAZF1

Chr 7

JAZF zinc finger 1

Also known as: TIP27, ZNF802

NCBI Gene: 221895ENSG00000153814UniProt: Q86VZ6

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]

1
Active trials
25
Pathogenic / LP
54
ClinVar variants
18
Pubs (1 yr)
2.3
Missense Z
0.41
LOEUF
Clinical Summary— JAZF1
⚡
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.90) — some intolerance to loss-of-function variants.
📋
ClinVar Variants
25 Pathogenic / Likely Pathogenic· 27 VUS of 54 total submissions
💊
Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint
0.41LOEUF
pLI 0.896
Z-score 2.90
OE 0.09 (0.03–0.41)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
2.35Z-score
OE missense 0.45 (0.37–0.56)
66 obs / 145.7 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.09 (0.03–0.41)
0≤0.351.4
Missense OE0.45 (0.37–0.56)
0≤0.61.4
Synonymous OE1.15
0≤1.21.6
LoF obs/exp: 1 / 11.7Missense obs/exp: 66 / 145.7Syn Z: -0.90
LOF
DN
0.5378th %ile
GOF
0.3293th %ile
LOF
0.76top 10%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · LOEUF 0.41

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.

ClinVar Variant Classifications

54 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic23
Likely Pathogenic2
VUS27
Likely Benign1
Benign1
23
Pathogenic
2
Likely Pathogenic
27
VUS
1
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
23
0
23
Likely Pathogenic
0
0
2
0
2
VUS
0
18
9
0
27
Likely Benign
0
0
0
1
1
Benign
0
0
1
0
1
Total01835154

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

JAZF1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Endometrial stromal tumors of the uterus: Epidemiology, pathological and biological features, treatment options and clinical outcomes.
Gadducci A et al.·Gynecol Oncol
2023Review
Endometrial Stromal Sarcomas With BCOR Internal Tandem Duplication and Variant BCOR/BCORL1 Rearrangements Resemble High-grade Endometrial Stromal Sarcomas With Recurrent CDK4 Pathway Alterations and MDM2 Amplifications.
Kommoss FKF et al.·Am J Surg Pathol
2022
JAZF1 safeguards human endometrial stromal cells survival and decidualization by repressing the transcription of G0S2.
Liang Y et al.·Commun Biol
2023
Identification of pathogenic cell types and shared genetic loci and genes for Alzheimer's disease and inflammatory bowel disease.
Zhang J et al.·Brief Funct Genomics
2025
Rs864745 in JAZF1, an Islet Function Associated Variant, Correlates With Plasma Lipid Levels in Both Type 1 and Type 2 Diabetes Status, but Not Healthy Subjects.
Dai H et al.·Front Endocrinol (Lausanne)
2022
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
The study of JAZF1-mediated apoptosis of decidual stromal cells by activating the NF-κB signaling pathway in spontaneous preterm birth.
Gong MQ et al.·BMC Pregnancy Childbirth
2025Open Access
Incidentally Discovered Intra-Abdominal Low-Grade Endometrioid Stromal Sarcoma Confirmed by JAZF1 Rearrangement Study.
Kenney SS et al.·Int J Surg Pathol
2026
Spindle Cell Sarcoma With Novel JAZF1::NUDT5 Gene Fusion: Report of a Previously Undescribed Neoplasm.
Fliorent R et al.·Genes Chromosomes Cancer
2025
The Association Between Dietary Iron, the SNP of the JAZF1 rs864745, and Glucose Metabolism in a Chinese Population.
Hu Z et al.·Nutrients
2024Open Access
Identification of JAZF1, KNOP1, and PLEKHA1 as causally associated genes and drug targets for Alzheimer's disease: a summary data-based Mendelian randomization study.
Zhai Y et al.·Inflammopharmacology
2024
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients