DNAJB11 Chromosome 3
DnaJ heat shock protein family (Hsp40) member B11
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What This Gene Does
This gene encodes a soluble glycoprotein of the endoplasmic reticulum (ER) lumen that functions as a co-chaperone of binding immunoglobulin protein, a 70 kilodalton heat shock protein chaperone required for the proper folding and assembly of proteins in the ER. The encoded protein contains a highly conserved J domain of about 70 amino acids with a characteristic His-Pro-Asp (HPD) motif and may regulate the activity of binding immunoglobulin protein by stimulating ATPase activity. [provided by RefSeq, Mar 2014]
Gene Info
Gene Group
DNAJ (HSP40) heat shock proteins
Locus Type
gene with protein product
Location
3q27.3
Ensembl
ENSG00000090520
Associated Conditions (8)
Inborn genetic diseases
Polycystic kidney disease 6 with or without polycystic liver disease
Enlarged kidney
Multiple renal cysts
Anhydramnios
Autosomal dominant polycystic kidney disease
Renal cyst
Polycystic kidney disease
Key Variants
RS141441408
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1169192999
Likely pathogenic
Health Risk
RS1273228187
Likely pathogenic
Health Risk
RS1553849919
Likely pathogenic
Polycystic kidney disease 6 with or without polycystic liver disease, Polycystic kidney disease 6 with or without polycystic liver disease
Health Risk
RS1553850185
Likely pathogenic
Polycystic kidney disease 6 with or without polycystic liver disease, Polycystic kidney disease 6 with or without polycystic liver disease
Health Risk
RS2108484340
Likely pathogenic
Enlarged kidney, Multiple renal cysts, Anhydramnios
Health Risk
RS2474564821
Likely pathogenic
Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
Health Risk
RS2474576556
Likely pathogenic
Polycystic kidney disease 6 with or without polycystic liver disease, Polycystic kidney disease 6 with or without polycystic liver disease
Health Risk
RS2474578114
Likely pathogenic
Polycystic kidney disease 6 with or without polycystic liver disease, Polycystic kidney disease 6 with or without polycystic liver disease
Health Risk
RS1351138670
Pathogenic
Polycystic kidney disease 6 with or without polycystic liver disease, Polycystic kidney disease 6 with or without polycystic liver disease
Health Risk
RS148976481
Pathogenic
Health Risk
RS1553849920
Pathogenic
Polycystic kidney disease 6 with or without polycystic liver disease, Polycystic kidney disease 6 with or without polycystic liver disease
Health Risk
All Variants (16)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS141441408 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1169192999 | Health Risk | Likely pathogenic | — |
| RS1273228187 | Health Risk | Likely pathogenic | — |
| RS1553849919 | Health Risk | Likely pathogenic | Polycystic kidney disease 6 with or without polycystic liver disease, Polycystic kidney disease 6 with or without polycystic liver disease |
| RS1553850185 | Health Risk | Likely pathogenic | Polycystic kidney disease 6 with or without polycystic liver disease, Polycystic kidney disease 6 with or without polycystic liver disease |
| RS2108484340 | Health Risk | Likely pathogenic | Enlarged kidney, Multiple renal cysts, Anhydramnios |
| RS2474564821 | Health Risk | Likely pathogenic | Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease |
| RS2474576556 | Health Risk | Likely pathogenic | Polycystic kidney disease 6 with or without polycystic liver disease, Polycystic kidney disease 6 with or without polycystic liver disease |
| RS2474578114 | Health Risk | Likely pathogenic | Polycystic kidney disease 6 with or without polycystic liver disease, Polycystic kidney disease 6 with or without polycystic liver disease |
| RS1351138670 | Health Risk | Pathogenic | Polycystic kidney disease 6 with or without polycystic liver disease, Polycystic kidney disease 6 with or without polycystic liver disease |
| RS148976481 | Health Risk | Pathogenic | — |
| RS1553849920 | Health Risk | Pathogenic | Polycystic kidney disease 6 with or without polycystic liver disease, Polycystic kidney disease 6 with or without polycystic liver disease |
| RS2108473228 | Health Risk | Pathogenic | Renal cyst, Polycystic kidney disease, Polycystic kidney disease 6 with or without polycystic liver disease |
| RS2474556395 | Health Risk | Pathogenic | Polycystic kidney disease 6 with or without polycystic liver disease, Polycystic kidney disease 6 with or without polycystic liver disease |
| RS765764090 | Health Risk | Pathogenic | Inborn genetic diseases, Polycystic kidney disease 6 with or without polycystic liver disease, Inborn genetic diseases |
| RS941713150 | Health Risk | Pathogenic | Polycystic kidney disease 6 with or without polycystic liver disease, Polycystic kidney disease 6 with or without polycystic liver disease |