DNAJC6 (DnaJ heat shock protein family (Hsp40) member C6)

2007-04-01  

Identity

HGNC
LOCATION
1p31.3
LOCUSID
ALIAS
DJC6,PARK19
FUSION GENES

Other Information

Locus ID:

NCBI: 9829
MIM: 608375
HGNC: 15469
Ensembl: ENSG00000116675

Variants:

dbSNP: 9829
ClinVar: 9829
TCGA: ENSG00000116675
COSMIC: DNAJC6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000116675ENST00000263441O75061
ENSG00000116675ENST00000371069O75061
ENSG00000116675ENST00000395325O75061
ENSG00000116675ENST00000494710S4R305

Expression (GTEx)

0
10
20
30
40
50
60
70
80

Pathways

PathwaySourceExternal ID
EndocytosisKEGGko04144
EndocytosisKEGGhsa04144
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
trans-Golgi Network Vesicle BuddingREACTOMER-HSA-199992
Clathrin derived vesicle buddingREACTOMER-HSA-421837
Golgi Associated Vesicle BiogenesisREACTOMER-HSA-432722
Lysosome Vesicle BiogenesisREACTOMER-HSA-432720
Clathrin-mediated endocytosisREACTOMER-HSA-8856828

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
225635012012A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism.81
191655272009Prefrontal cortex shotgun proteome analysis reveals altered calcium homeostasis and immune system imbalance in schizophrenia.56
242621822014Genetics of Parkinson's disease--state of the art, 2013.53
232114182013DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability.45
265289542016DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease.36
184897062008Auxilin depletion causes self-assembly of clathrin into membraneless cages in vivo.29
201983152010Association of genetic variants with hemorrhagic stroke in Japanese individuals.11
226477162012Homozygous deletion of an 80 kb region comprising part of DNAJC6 and LEPR genes on chromosome 1P31.3 is associated with early onset obesity, mental retardation and epilepsy.10
254460722014DNAJC6 promotes hepatocellular carcinoma progression through induction of epithelial-mesenchymal transition.6
198512962010Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals.3

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