Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 9829
MIM: 608375
HGNC: 15469
Ensembl: ENSG00000116675
Variants:
dbSNP: 9829
ClinVar: 9829
TCGA: ENSG00000116675
COSMIC: DNAJC6
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000116675 | ENST00000263441 | O75061 |
| ENSG00000116675 | ENST00000371069 | O75061 |
| ENSG00000116675 | ENST00000395325 | O75061 |
| ENSG00000116675 | ENST00000494710 | S4R305 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38928416 | 2024 | Downregulation of Protease Cathepsin D and Upregulation of Pathologic α-Synuclein Mediate Paucity of DNAJC6-Induced Degeneration of Dopaminergic Neurons. | 0 |
| 38928416 | 2024 | Downregulation of Protease Cathepsin D and Upregulation of Pathologic α-Synuclein Mediate Paucity of DNAJC6-Induced Degeneration of Dopaminergic Neurons. | 0 |
| 33597231 | 2021 | Neurodevelopmental defects and neurodegenerative phenotypes in human brain organoids carrying Parkinson's disease-linked DNAJC6 mutations. | 41 |
| 34948429 | 2021 | Investigating the Endo-Lysosomal System in Major Neurocognitive Disorders Due to Alzheimer's Disease, Frontotemporal Lobar Degeneration and Lewy Body Disease: Evidence for SORL1 as a Cross-Disease Gene. | 8 |
| 33597231 | 2021 | Neurodevelopmental defects and neurodegenerative phenotypes in human brain organoids carrying Parkinson's disease-linked DNAJC6 mutations. | 41 |
| 34948429 | 2021 | Investigating the Endo-Lysosomal System in Major Neurocognitive Disorders Due to Alzheimer's Disease, Frontotemporal Lobar Degeneration and Lewy Body Disease: Evidence for SORL1 as a Cross-Disease Gene. | 8 |
| 32472658 | 2020 | DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-Dystonia. | 15 |
| 32472658 | 2020 | DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-Dystonia. | 15 |
| 30373961 | 2019 | Haplotype Analysis on the Relationship of the DNAJC6 Gene with Early-Onset Parkinson's Disease Risk in a Chinese Population. | 0 |
| 30373961 | 2019 | Haplotype Analysis on the Relationship of the DNAJC6 Gene with Early-Onset Parkinson's Disease Risk in a Chinese Population. | 0 |
| 26528954 | 2016 | DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease. | 92 |
| 27687717 | 2016 | DNAJC6 mutations are not common causes of early onset Parkinson's disease in Chinese Han population. | 3 |
| 26528954 | 2016 | DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease. | 92 |
| 27687717 | 2016 | DNAJC6 mutations are not common causes of early onset Parkinson's disease in Chinese Han population. | 3 |
| 24126164 | 2014 | DNAJ mutations are rare in Chinese Parkinson's disease patients and controls. | 8 |
Citation
Dessen P
DNAJC6 (DnaJ heat shock protein family (Hsp40) member C6)
Atlas Genet Cytogenet Oncol Haematol. 2007-04-01
Online version: http://atlasgeneticsoncology.org/gene/46727/dnajc6
