Identity
HGNC
LOCATION
3q22.1
LOCUSID
ALIAS
PARK21,RME8
FUSION GENES
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: 23317
MIM: 614334
HGNC: 30343
Ensembl: ENSG00000138246
Variants:
dbSNP: 23317
ClinVar: 23317
TCGA: ENSG00000138246
COSMIC: DNAJC13
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000138246 | ENST00000260818 | O75165 |
| ENSG00000138246 | ENST00000506813 | H0Y8Q2 |
| ENSG00000138246 | ENST00000509279 | H0YA63 |
| ENSG00000138246 | ENST00000650455 | A0A3B3IRM0 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Immune System | REACTOME | R-HSA-168256 |
| Innate Immune System | REACTOME | R-HSA-168249 |
| Neutrophil degranulation | REACTOME | R-HSA-6798695 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 32322926 | 2021 | Receptor-mediated endocytosis 8 (RME-8)/DNAJC13 is a novel positive modulator of autophagy and stabilizes cellular protein homeostasis. | 10 |
| 33239198 | 2021 | Association study of DNAJC13, UCHL1, HTRA2, GIGYF2, and EIF4G1 with Parkinson's disease. | 11 |
| 32322926 | 2021 | Receptor-mediated endocytosis 8 (RME-8)/DNAJC13 is a novel positive modulator of autophagy and stabilizes cellular protein homeostasis. | 10 |
| 33239198 | 2021 | Association study of DNAJC13, UCHL1, HTRA2, GIGYF2, and EIF4G1 with Parkinson's disease. | 11 |
| 29309590 | 2018 | Parkinson's disease-linked DNAJC13 mutation aggravates alpha-synuclein-induced neurotoxicity through perturbation of endosomal trafficking. | 19 |
| 29887357 | 2018 | DNAJC13 mutation screening in patients with Parkinson's disease from South Italy. | 8 |
| 29309590 | 2018 | Parkinson's disease-linked DNAJC13 mutation aggravates alpha-synuclein-induced neurotoxicity through perturbation of endosomal trafficking. | 19 |
| 29887357 | 2018 | DNAJC13 mutation screening in patients with Parkinson's disease from South Italy. | 8 |
| 27236598 | 2016 | Analysis of DNAJC13 mutations in French-Canadian/French cohort of Parkinson's disease. | 21 |
| 27236598 | 2016 | Analysis of DNAJC13 mutations in French-Canadian/French cohort of Parkinson's disease. | 21 |
| 25118025 | 2015 | VPS35 and DNAJC13 disease-causing variants in essential tremor. | 14 |
| 25393719 | 2015 | DNAJC13 genetic variants in parkinsonism. | 21 |
| 26134565 | 2015 | Receptor-mediated Endocytosis 8 Utilizes an N-terminal Phosphoinositide-binding Motif to Regulate Endosomal Clathrin Dynamics. | 11 |
| 26278106 | 2015 | DNAJC13 p.Asn855Ser mutation screening in Parkinson's disease and pathologically confirmed Lewy body disease patients. | 12 |
| 25118025 | 2015 | VPS35 and DNAJC13 disease-causing variants in essential tremor. | 14 |
Citation
Dessen P
DNAJC13 (DnaJ heat shock protein family (Hsp40) member C13)
Atlas Genet Cytogenet Oncol Haematol. 2007-04-01
Online version: http://atlasgeneticsoncology.org/gene/47312/dnajc13
