DNAJC5 Chromosome 20
DnaJ heat shock protein family (Hsp40) member C5
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What This Gene Does
This gene is a member of the J protein family. J proteins function in many cellular processes by regulating the ATPase activity of 70 kDa heat shock proteins. The encoded protein plays a role in membrane trafficking and protein folding, and has been shown to have anti-neurodegenerative properties. The encoded protein is known to play a role in cystic fibrosis and Huntington's disease. A pseudogene of this gene is located on the short arm of chromosome 8. [provided by RefSeq, Nov 2010]
Gene Info
Gene Group
"DNAJ (HSP40) heat shock proteins|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
20q13.33
Ensembl
ENSG00000101152
Associated Conditions (6)
Neuronal ceroid lipofuscinosis
Ceroid lipofuscinosis
neuronal
4 (Kufs type)
Inborn genetic diseases
DNAJC5-related disorder
Key Variants
RS139312819
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
Health Risk
RS144915847
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
Health Risk
RS151265913
Conflicting classifications of pathogenicity
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
Health Risk
RS189308547
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis, Inborn genetic diseases, Neuronal ceroid lipofuscinosis
Health Risk
RS41278210
Conflicting classifications of pathogenicity
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
Health Risk
RS528096976
Conflicting classifications of pathogenicity
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
Health Risk
RS6011230
Conflicting classifications of pathogenicity
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
Health Risk
RS746222594
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis, Ceroid lipofuscinosis, neuronal
Health Risk
RS753956759
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis, DNAJC5-related disorder, Neuronal ceroid lipofuscinosis
Health Risk
RS761982169
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis, Inborn genetic diseases, Ceroid lipofuscinosis
Health Risk
RS772254851
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis, Ceroid lipofuscinosis, neuronal
Health Risk
RS772453351
Conflicting classifications of pathogenicity
Neuronal ceroid lipofuscinosis, Inborn genetic diseases, Neuronal ceroid lipofuscinosis
Health Risk
All Variants (19)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139312819 | Health Risk | Conflicting classifications of pathogenicity | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS144915847 | Health Risk | Conflicting classifications of pathogenicity | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS151265913 | Health Risk | Conflicting classifications of pathogenicity | Ceroid lipofuscinosis, neuronal, 4 (Kufs type) |
| RS189308547 | Health Risk | Conflicting classifications of pathogenicity | Neuronal ceroid lipofuscinosis, Inborn genetic diseases, Neuronal ceroid lipofuscinosis |
| RS41278210 | Health Risk | Conflicting classifications of pathogenicity | Ceroid lipofuscinosis, neuronal, 4 (Kufs type) |
| RS528096976 | Health Risk | Conflicting classifications of pathogenicity | Ceroid lipofuscinosis, neuronal, 4 (Kufs type) |
| RS6011230 | Health Risk | Conflicting classifications of pathogenicity | Ceroid lipofuscinosis, neuronal, 4 (Kufs type) |
| RS746222594 | Health Risk | Conflicting classifications of pathogenicity | Neuronal ceroid lipofuscinosis, Ceroid lipofuscinosis, neuronal |
| RS753956759 | Health Risk | Conflicting classifications of pathogenicity | Neuronal ceroid lipofuscinosis, DNAJC5-related disorder, Neuronal ceroid lipofuscinosis |
| RS761982169 | Health Risk | Conflicting classifications of pathogenicity | Neuronal ceroid lipofuscinosis, Inborn genetic diseases, Ceroid lipofuscinosis |
| RS772254851 | Health Risk | Conflicting classifications of pathogenicity | Neuronal ceroid lipofuscinosis, Ceroid lipofuscinosis, neuronal |
| RS772453351 | Health Risk | Conflicting classifications of pathogenicity | Neuronal ceroid lipofuscinosis, Inborn genetic diseases, Neuronal ceroid lipofuscinosis |
| RS781164296 | Health Risk | Conflicting classifications of pathogenicity | Ceroid lipofuscinosis, neuronal, 4 (Kufs type) |
| RS886043295 | Health Risk | Conflicting classifications of pathogenicity | Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis |
| RS886056935 | Health Risk | Conflicting classifications of pathogenicity | Ceroid lipofuscinosis, neuronal, 4 (Kufs type) |
| RS1600887859 | Health Risk | Pathogenic | Ceroid lipofuscinosis, neuronal, 4 (Kufs type) |
| RS2146308296 | Health Risk | Pathogenic | Ceroid lipofuscinosis, neuronal, 4 (Kufs type) |
| RS387907043 | Health Risk | Pathogenic | Ceroid lipofuscinosis, neuronal, 4 (Kufs type) |
| RS587776892 | Health Risk | Pathogenic | Ceroid lipofuscinosis, neuronal, 4 (Kufs type) |