DNAJB4

Chr 1AR

DnaJ heat shock protein family (Hsp40) member B4

Also known as: CMYO21, CMYP21, DNAJW, DjB4, HLJ1

The protein encoded by this gene is a molecular chaperone, tumor suppressor, and member of the heat shock protein-40 family. The encoded protein binds the cell adhesion protein E-cadherin and targets it to the plasma membrane. This protein also binds incorrectly folded E-cadherin and targets it for endoplasmic reticulum-associated degradation. This gene is a strong tumor suppressor for colorectal carcinoma, and downregulation of it may serve as a good biomarker for predicting patient outcomes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Congenital myopathy 21 with early respiratory failureMIM #620326
AR
0
Active trials
15
Pubs (1 yr)
P/LP submissions
P/LP missense
0.83
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.83LOEUF
pLI 0.016
Z-score 2.00
OE 0.39 (0.200.83)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.21Z-score
OE missense 0.75 (0.650.86)
138 obs / 184.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.39 (0.200.83)
00.351.4
Missense OE?0.75 (0.650.86)
00.61.4
Synonymous OE?0.96
01.21.6
LoF obs/exp: 5 / 12.7Missense obs/exp: 138 / 184.1Syn Z: 0.27

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

DNAJB4 · 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.

Search ClinicalTrials.gov →