DNAJC19 (DnaJ heat shock protein family (Hsp40) member C19)

2007-04-01  

Identity

HGNC
LOCATION
3q26.33
LOCUSID
ALIAS
PAM18,TIM14,TIMM14
FUSION GENES

Other Information

Locus ID:

NCBI: 131118
MIM: 608977
HGNC: 30528
Ensembl: ENSG00000205981

Variants:

dbSNP: 131118
ClinVar: 131118
TCGA: ENSG00000205981
COSMIC: DNAJC19

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000205981ENST00000382564Q96DA6
ENSG00000205981ENST00000382564A0A0S2Z5X1
ENSG00000205981ENST00000469657G5E9V2
ENSG00000205981ENST00000479269Q96DA6
ENSG00000205981ENST00000486355F2Z3A7
ENSG00000205981ENST00000491873Q96DA6
ENSG00000205981ENST00000643241A0A2R8Y817
ENSG00000205981ENST00000646965A0A2R8Y839

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Mitochondrial protein importREACTOMER-HSA-1268020

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
160559272006Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition.67
248569302014DNAJC19, a mitochondrial cochaperone associated with cardiomyopathy, forms a complex with prohibitins to regulate cardiolipin remodeling.43
227971372012New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies.27
172443762007Cardiac features of a novel autosomal recessive dilated cardiomyopathic syndrome due to defective importation of mitochondrial protein.9
273300772016Functional Diversity of Human Mitochondrial J-proteins Is Independent of Their Association with the Inner Membrane Presequence Translocase.1

Citation

Dessen P

DNAJC19 (DnaJ heat shock protein family (Hsp40) member C19)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47207/dnajc19