DNAJB2

Chr 2

DnaJ heat shock protein family (Hsp40) member B2

Also known as: CMT2T, DSMA5, HMNR5, HSJ-1, HSJ1, HSPF3

This gene is almost exclusively expressed in the brain, mainly in the neuronal layers. It encodes a protein that shows sequence similarity to bacterial DnaJ protein and the yeast homologs. In bacteria, this protein is implicated in protein folding and protein complex dissociation. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2011]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtNeuronopathy, distal hereditary motor, autosomal recessive 5

Clinical highlights

Gene-disease validity (ClinGen)
neuronopathy, distal hereditary motor, autosomal recessive 5 · ARDefinitivesufficient evidence for diagnostic panels
0
Active trials
6
Pubs (1 yr)
P/LP submissions
P/LP missense
1.03
LOEUF
Multiple*
Mechanism· predicted
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GeneReview available — DNAJB2
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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?
1.03LOEUF
pLI 0.000
Z-score 1.49
OE 0.59 (0.351.03)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.72Z-score
OE missense 0.86 (0.760.97)
174 obs / 202.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.59 (0.351.03)
00.351.4
Missense OE?0.86 (0.760.97)
00.61.4
Synonymous OE?1.01
01.21.6
LoF obs/exp: 9 / 15.3Missense obs/exp: 174 / 202.9Syn Z: -0.05

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

DNAJB2 · 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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