DNAJB12

Chr 10

DnaJ heat shock protein family (Hsp40) member B12

Also known as: DJ10

NCBI Gene: 54788ENSG00000148719UniProt: Q9NXW2OMIM: 608376

DNAJB12 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus; a glycine/phenylalanine (G/F)-rich region; and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain (Ohtsuka and Hata, 2000 [PubMed 11147971]).[supplied by OMIM, Mar 2008]

OMIMResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
11
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.49
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.49LOEUF
pLI 0.440
Z-score 3.13
OE 0.22 (0.10–0.49)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
0.58Z-score
OE missense 0.90 (0.81–1.00)
238 obs / 264.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.22 (0.10–0.49)
0≤0.351.4
Missense OE?0.90 (0.81–1.00)
0≤0.61.4
Synonymous OE?1.02
0≤1.21.6
LoF obs/exp: 4 / 18.5Missense obs/exp: 238 / 264.5Syn Z: -0.18

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

DNAJB12 · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

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