DNAJC19 Chromosome 3
DnaJ heat shock protein family (Hsp40) member C19
Upload your DNA to see your personal genotypes for variants in DNAJC19.
What This Gene Does
The protein encoded by this gene is thought to be part of a complex involved in the ATP-dependent transport of transit peptide-containing proteins from the inner cell membrane to the mitochondrial matrix. Defects in this gene are a cause of 3-methylglutaconic aciduria type 5 (MGA5), also known as dilated cardiomyopathy with ataxia (DCMA). Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 1, 2, 6, 10, 14 and 19. [provided by RefSeq, Jan 2012]
Gene Info
Gene Group
"DNAJ (HSP40) heat shock proteins|TIM23 complex"
Locus Type
gene with protein product
Location
3q26.33
Ensembl
ENSG00000205981
Associated Conditions (6)
3-methylglutaconic aciduria type 5
Inborn genetic diseases
Malignant tumor of esophagus
Gastric cancer
DNAJC19-related disorder
3-Methylglutaconic aciduria type 3
Key Variants
RS141007488
Conflicting classifications of pathogenicity
3-methylglutaconic aciduria type 5, Inborn genetic diseases, 3-methylglutaconic aciduria type 5
Health Risk
RS370042988
Conflicting classifications of pathogenicity
3-methylglutaconic aciduria type 5, Inborn genetic diseases, 3-methylglutaconic aciduria type 5
Health Risk
RS376891597
Conflicting classifications of pathogenicity
3-methylglutaconic aciduria type 5, Inborn genetic diseases, 3-methylglutaconic aciduria type 5
Health Risk
RS756192515
Conflicting classifications of pathogenicity
3-methylglutaconic aciduria type 5, 3-methylglutaconic aciduria type 5
Health Risk
RS756616792
Conflicting classifications of pathogenicity
3-methylglutaconic aciduria type 5, 3-methylglutaconic aciduria type 5
Health Risk
RS1003922271
Likely pathogenic
Malignant tumor of esophagus, 3-methylglutaconic aciduria type 5, Malignant tumor of esophagus
Health Risk
RS1714806751
Likely pathogenic
Health Risk
RS2473924536
Likely pathogenic
3-methylglutaconic aciduria type 5, 3-methylglutaconic aciduria type 5
Health Risk
RS2473927704
Likely pathogenic
3-methylglutaconic aciduria type 5, 3-methylglutaconic aciduria type 5
Health Risk
RS753055824
Likely pathogenic
3-methylglutaconic aciduria type 5, 3-methylglutaconic aciduria type 5
Health Risk
RS755024172
Likely pathogenic
3-methylglutaconic aciduria type 5, 3-methylglutaconic aciduria type 5
Health Risk
RS772236610
Likely pathogenic
3-methylglutaconic aciduria type 5, Gastric cancer, 3-methylglutaconic aciduria type 5
Health Risk
All Variants (22)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS141007488 | Health Risk | Conflicting classifications of pathogenicity | 3-methylglutaconic aciduria type 5, Inborn genetic diseases, 3-methylglutaconic aciduria type 5 |
| RS370042988 | Health Risk | Conflicting classifications of pathogenicity | 3-methylglutaconic aciduria type 5, Inborn genetic diseases, 3-methylglutaconic aciduria type 5 |
| RS376891597 | Health Risk | Conflicting classifications of pathogenicity | 3-methylglutaconic aciduria type 5, Inborn genetic diseases, 3-methylglutaconic aciduria type 5 |
| RS756192515 | Health Risk | Conflicting classifications of pathogenicity | 3-methylglutaconic aciduria type 5, 3-methylglutaconic aciduria type 5 |
| RS756616792 | Health Risk | Conflicting classifications of pathogenicity | 3-methylglutaconic aciduria type 5, 3-methylglutaconic aciduria type 5 |
| RS1003922271 | Health Risk | Likely pathogenic | Malignant tumor of esophagus, 3-methylglutaconic aciduria type 5, Malignant tumor of esophagus |
| RS1714806751 | Health Risk | Likely pathogenic | — |
| RS2473924536 | Health Risk | Likely pathogenic | 3-methylglutaconic aciduria type 5, 3-methylglutaconic aciduria type 5 |
| RS2473927704 | Health Risk | Likely pathogenic | 3-methylglutaconic aciduria type 5, 3-methylglutaconic aciduria type 5 |
| RS753055824 | Health Risk | Likely pathogenic | 3-methylglutaconic aciduria type 5, 3-methylglutaconic aciduria type 5 |
| RS755024172 | Health Risk | Likely pathogenic | 3-methylglutaconic aciduria type 5, 3-methylglutaconic aciduria type 5 |
| RS772236610 | Health Risk | Likely pathogenic | 3-methylglutaconic aciduria type 5, Gastric cancer, 3-methylglutaconic aciduria type 5 |
| RS878852999 | Health Risk | Likely pathogenic | 3-methylglutaconic aciduria type 5, 3-methylglutaconic aciduria type 5 |
| RS137854888 | Health Risk | Pathogenic | 3-methylglutaconic aciduria type 5, DNAJC19-related disorder, 3-methylglutaconic aciduria type 5 |
| RS145786060 | Health Risk | Pathogenic | 3-methylglutaconic aciduria type 5, 3-Methylglutaconic aciduria type 3, 3-methylglutaconic aciduria type 5 |
| RS1560040369 | Health Risk | Pathogenic | 3-methylglutaconic aciduria type 5, 3-methylglutaconic aciduria type 5 |
| RS1715007577 | Health Risk | Pathogenic | 3-methylglutaconic aciduria type 5, 3-methylglutaconic aciduria type 5 |
| RS2473933595 | Health Risk | Pathogenic | 3-methylglutaconic aciduria type 5, 3-methylglutaconic aciduria type 5 |
| RS587777224 | Health Risk | Pathogenic | 3-methylglutaconic aciduria type 5, 3-methylglutaconic aciduria type 5 |
| RS764568129 | Health Risk | Pathogenic | 3-methylglutaconic aciduria type 5, 3-methylglutaconic aciduria type 5 |
| RS2108509666 | Health Risk | Pathogenic/Likely pathogenic | 3-methylglutaconic aciduria type 5, 3-methylglutaconic aciduria type 5 |
| RS2108509746 | Health Risk | Pathogenic/Likely pathogenic | 3-methylglutaconic aciduria type 5, 3-methylglutaconic aciduria type 5 |