DNAJB2 Chromosome 2
DnaJ heat shock protein family (Hsp40) member B2
Upload your DNA to see your personal genotypes for variants in DNAJB2.
What This Gene Does
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]
Gene Info
Gene Group
DNAJ (HSP40) heat shock proteins
Locus Type
gene with protein product
Location
2q35
Ensembl
ENSG00000135924
Associated Conditions (15)
Inborn genetic diseases
Neuronopathy
distal hereditary motor
autosomal recessive 5
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2
Cervical cancer
Thyroid cancer
nonmedullary
1
Familial cancer of breast
DNAJB2-related disorder
Autosomal recessive distal spinal muscular atrophy 2
Charcot-Marie-Tooth disease X-linked dominant 1
Charcot-Marie-Tooth disease axonal type 2T
Key Variants
RS1389758339
Conflicting classifications of pathogenicity
Inborn genetic diseases, Neuronopathy, distal hereditary motor
Health Risk
RS1951895452
Conflicting classifications of pathogenicity
Neuronopathy, distal hereditary motor, autosomal recessive 5
Health Risk
RS200554674
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease, Neuronopathy, distal hereditary motor
Health Risk
RS369661561
Conflicting classifications of pathogenicity
Neuronopathy, distal hereditary motor, autosomal recessive 5
Health Risk
RS373229634
Conflicting classifications of pathogenicity
Neuronopathy, distal hereditary motor, autosomal recessive 5
Health Risk
RS752078357
Conflicting classifications of pathogenicity
Neuronopathy, distal hereditary motor, autosomal recessive 5
Health Risk
RS1018405924
Likely pathogenic
Neuronopathy, distal hereditary motor, autosomal recessive 5
Health Risk
RS1951889033
Likely pathogenic
Neuronopathy, distal hereditary motor, autosomal recessive 5
Health Risk
RS2125082935
Likely pathogenic
Neuronopathy, distal hereditary motor, autosomal recessive 5
Health Risk
RS2545028296
Likely pathogenic
DNAJB2-related disorder, DNAJB2-related disorder
Health Risk
RS368547938
Likely pathogenic
Neuronopathy, distal hereditary motor, autosomal recessive 5
Health Risk
RS730882140
Likely pathogenic
Neuronopathy, distal hereditary motor, autosomal recessive 5
Health Risk
All Variants (25)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1389758339 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Neuronopathy, distal hereditary motor |
| RS1951895452 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, autosomal recessive 5 |
| RS200554674 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, Neuronopathy, distal hereditary motor |
| RS369661561 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, autosomal recessive 5 |
| RS373229634 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, autosomal recessive 5 |
| RS752078357 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, autosomal recessive 5 |
| RS1018405924 | Health Risk | Likely pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 5 |
| RS1951889033 | Health Risk | Likely pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 5 |
| RS2125082935 | Health Risk | Likely pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 5 |
| RS2545028296 | Health Risk | Likely pathogenic | DNAJB2-related disorder, DNAJB2-related disorder |
| RS368547938 | Health Risk | Likely pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 5 |
| RS730882140 | Health Risk | Likely pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 5 |
| RS758322672 | Health Risk | Likely pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 5 |
| RS879253868 | Health Risk | Likely pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 5 |
| RS918395100 | Health Risk | Likely pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 5 |
| RS1182614290 | Health Risk | Pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 5 |
| RS2125081805 | Health Risk | Pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 5 |
| RS2125082259 | Health Risk | Pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 5 |
| RS730882139 | Health Risk | Pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 5 |
| RS753570551 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS756614404 | Health Risk | Pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 5 |
| RS764813110 | Health Risk | Pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 5 |
| RS797045039 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2T, Charcot-Marie-Tooth disease axonal type 2T |
| RS936213383 | Health Risk | Pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 5 |
| RS562669797 | Health Risk | Pathogenic/Likely pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 5 |