DNAJB9

Chr 7

DnaJ heat shock protein family (Hsp40) member B9

Also known as: ERdj4, MDG-1, MDG1, MST049, MSTP049

NCBI Gene: 4189ENSG00000128590UniProt: Q9UBS3

This gene is a member of the J protein family. J proteins function in many cellular processes by regulating the ATPase activity of 70 kDa heat shock proteins. This gene is a member of the type 2 subgroup of DnaJ proteins. The encoded protein is localized to the endoplasmic reticulum. This protein is induced by endoplasmic reticulum stress and plays a role in protecting stressed cells from apoptosis. [provided by RefSeq, Dec 2010]

64
ClinVar variants
18
Pathogenic / LP
0.37
pLI score
0
Active trials
Clinical Summary— DNAJB9
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.22) despite low pLI — interpret in context.
📋
ClinVar Variants
18 Pathogenic / Likely Pathogenic· 42 VUS of 64 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.70LOEUF
pLI 0.365
Z-score 2.15
OE 0.22 (0.09–0.70)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
-0.46Z-score
OE missense 1.12 (0.97–1.29)
131 obs / 117.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.22 (0.09–0.70)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.12 (0.97–1.29)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.02
0≤1.21.6
LoF obs/exp: 2 / 8.9Missense obs/exp: 131 / 117.1Syn Z: -0.09

ClinVar Variant Classifications

64 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic18
VUS42
Likely Benign3
Benign1
18
Pathogenic
42
VUS
3
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
18
0
18
Likely Pathogenic
0
0
0
0
0
VUS
0
37
5
0
42
Likely Benign
0
1
2
0
3
Benign
0
1
0
0
1
Total03925064

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

View in ClinVar →

Protein Context — Lollipop Plot

DNAJB9 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Recurrence of DNAJB9-Positive Fibrillary Glomerulonephritis After Kidney Transplantation: A Case Series.
El Ters M et al.·Am J Kidney Dis
2020Cohort
Microplastic exposure and allergic rhinitis: Network toxicology, and molecular docking insights.
Wang Y et al.·PLoS One
2025
DNAJB9 suppresses the metastasis of triple-negative breast cancer by promoting FBXO45-mediated degradation of ZEB1.
Kim HY et al.·Cell Death Dis
2021
Elevated serum concentrations of DNAJB9 in fibrillary glomerulonephritis: another step toward understanding a progressive disease.
Andeen NK·Kidney Int
2019
New developments in the diagnosis of fibrillary glomerulonephritis.
Nasr SH et al.·Kidney Int
2019Review
Treatment of fibrillary glomerulonephritis with rituximab: a 12-month pilot study.
Erickson SB et al.·Nephrol Dial Transplant
2021
Fibrillary Glomerulonephritis: Clinicopathologic Features and Atypical Cases from a Multi-Institutional Cohort.
Andeen NK et al.·Clin J Am Soc Nephrol
2019Cohort
The Role of Endoplasmic Reticulum Stress in Fine Particulate Matter-Induced Phenotype Switching of Vascular Smooth Muscle Cells.
Huang L et al.·Chem Res Toxicol
2025
Cortisol controls endoplasmic reticulum stress and hypoxia dependent regulation of insulin receptor and related genes expression in HEK293 cells.
Minchenko DO et al.·Endocr Regul
2024
Integrated Analysis of Whole Exome Sequencing and Copy Number Evaluation in Parkinson's Disease.
Yemni EA et al.·Sci Rep
2019
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Breaking the Diagnostic Barrier: DNAJB9 Heat Shock Protein Testing for Fibrillary Glomerulonephritis in Cases With Low Tissue Reserves.
Qureshi K et al.·Cureus
2025🔓 Open AccessCohort
DNAJB9 Fibrillary Glomerulonephritis Following Rituximab-Based Therapy: A Case of Temporary Renal Recovery.
Ouanjine A et al.·Cureus
2025🔓 Open Access
Therapeutic Challenges and New Era in Fibrillary Glomerulonephritis with the Introduction of DNAJB9: Experience from a Tertiary Nephrology Center.
Poulli T et al.·J Clin Med
2025🔓 Open Access
Fibrillary Glomerulonephritis Diagnosis Is Enhanced by DNAJB9: Three Cases with Different Clinical, Anatomopathologic Features and Outcomes.
De La Flor JC et al.·Pathophysiology
2025🔓 Open AccessCohort
The expression of DNAJB9 in normal human astrocytes is more sensitive to nanographene oxide than in glioblastoma cells.
Minchenko O et al.·Endocr Regul
2024
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools