DNAJC27

Chr 2

DnaJ heat shock protein family (Hsp40) member C27

Also known as: RBJ, RabJS

NCBI Gene: 51277ENSG00000115137UniProt: Q9NZQ0

Predicted to enable GTPase activity. Predicted to be involved in intracellular protein transport. Predicted to be located in cytoplasmic vesicle and nucleus. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
8
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.89
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.89LOEUF
pLI 0.001
Z-score 1.86
OE 0.48 (0.27–0.89)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.48Z-score
OE missense 0.89 (0.78–1.02)
142 obs / 159.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.48 (0.27–0.89)
0≤0.351.4
Missense OE?0.89 (0.78–1.02)
0≤0.61.4
Synonymous OE?0.87
0≤1.21.6
LoF obs/exp: 7 / 14.7Missense obs/exp: 142 / 159.2Syn Z: 0.75

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

DNAJC27 · 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