DNAJB8

Chr 3

DnaJ heat shock protein family (Hsp40) member B8

Also known as: CT156, DJ6

The protein encoded by this gene belongs to the DNAJ/HSP40 family of proteins that regulate chaperone activity. This family member suppresses aggregation and toxicity of polyglutamine proteins, and the C-terminal tail is essential for this activity. It has been implicated as a cancer-testis antigen and as a cancer stem-like cell antigen involved in renal cell carcinoma. [provided by RefSeq, Jun 2012]

ResearchGenerating clinical summary…
DNmechanismLOEUF 1.30
Clinical SummaryDNAJB8
Population Constraint (gnomAD)
Low constraint (pLI 0.10) — loss-of-function variants are relatively tolerated in the population.
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.30LOEUF
pLI 0.095
Z-score 1.17
OE 0.42 (0.171.30)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.52Z-score
OE missense 1.12 (0.991.26)
175 obs / 156.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.42 (0.171.30)
00.351.4
Missense OE?1.12 (0.991.26)
00.61.4
Synonymous OE?1.05
01.21.6
LoF obs/exp: 2 / 4.7Missense obs/exp: 175 / 156.8Syn Z: -0.29

This gene — mechanism propensity

DN
0.87top 5%
GOF
0.6150th %ile
LOF
0.2288th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

DNAJB8 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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