DNAJB4 Chromosome 1
DnaJ heat shock protein family (Hsp40) member B4
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What This Gene Does
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]
Gene Info
Gene Group
DNAJ (HSP40) heat shock proteins
Locus Type
gene with protein product
Location
1p31.1
Ensembl
ENSG00000162616
Associated Conditions (1)
Congenital myopathy 21 with early respiratory failure
Key Variants
RS1353267621
Pathogenic
Congenital myopathy 21 with early respiratory failure, Congenital myopathy 21 with early respiratory failure
Health Risk
RS1660297324
Pathogenic
Congenital myopathy 21 with early respiratory failure, Congenital myopathy 21 with early respiratory failure
Health Risk
RS2524295993
Pathogenic
Congenital myopathy 21 with early respiratory failure, Congenital myopathy 21 with early respiratory failure
Health Risk
RS2524296398
Pathogenic
Congenital myopathy 21 with early respiratory failure, Congenital myopathy 21 with early respiratory failure
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1353267621 | Health Risk | Pathogenic | Congenital myopathy 21 with early respiratory failure, Congenital myopathy 21 with early respiratory failure |
| RS1660297324 | Health Risk | Pathogenic | Congenital myopathy 21 with early respiratory failure, Congenital myopathy 21 with early respiratory failure |
| RS2524295993 | Health Risk | Pathogenic | Congenital myopathy 21 with early respiratory failure, Congenital myopathy 21 with early respiratory failure |
| RS2524296398 | Health Risk | Pathogenic | Congenital myopathy 21 with early respiratory failure, Congenital myopathy 21 with early respiratory failure |