DNAJC3 Chromosome 13
DnaJ heat shock protein family (Hsp40) member C3
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What This Gene Does
This gene encodes a protein with multiple tetratricopeptide repeat (TPR) motifs as well as the highly conserved J domain found in DNAJ chaperone family members. It is a member of the tetratricopeptide repeat family of proteins and acts as an inhibitor of the interferon-induced, dsRNA-activated protein kinase (PKR). [provided by RefSeq, Jul 2010]
Gene Info
Gene Group
"DNAJ (HSP40) heat shock proteins|Tetratricopeptide repeat domain containing"
Locus Type
gene with protein product
Location
13q32.1
Ensembl
ENSG00000102580
Associated Conditions (3)
Inborn genetic diseases
Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
Prostate cancer
Key Variants
RS146893537
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS727502865
Conflicting classifications of pathogenicity
Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome, Prostate cancer, Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
Health Risk
RS768498039
Conflicting classifications of pathogenicity
Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome, Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
Health Risk
RS1253927514
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2139702590
Likely pathogenic
Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome, Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
Health Risk
RS2501258173
Likely pathogenic
Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome, Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
Health Risk
RS1594013989
Pathogenic
Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome, Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
Health Risk
RS2139591243
Pathogenic
Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome, Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
Health Risk
RS2139643358
Pathogenic
Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome, Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome, Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
Health Risk
RS1131691593
Pathogenic/Likely pathogenic
Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome, Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS146893537 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS727502865 | Health Risk | Conflicting classifications of pathogenicity | Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome, Prostate cancer, Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome |
| RS768498039 | Health Risk | Conflicting classifications of pathogenicity | Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome, Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome |
| RS1253927514 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2139702590 | Health Risk | Likely pathogenic | Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome, Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome |
| RS2501258173 | Health Risk | Likely pathogenic | Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome, Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome |
| RS1594013989 | Health Risk | Pathogenic | Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome, Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome |
| RS2139591243 | Health Risk | Pathogenic | Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome, Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome |
| RS2139643358 | Health Risk | Pathogenic | Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome, Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome, Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome |
| RS1131691593 | Health Risk | Pathogenic/Likely pathogenic | Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome, Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome |