DNAJC13 (DnaJ heat shock protein family (Hsp40) member C13)

2007-04-01  

Identity

HGNC
DNAJC13
LOCATION
3q22.1
LOCUSID
23317
ALIAS
PARK21,RME8
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 23317
MIM: 614334
HGNC: 30343
Ensembl: ENSG00000138246

Variants:

dbSNP: 23317
ClinVar: 23317
TCGA: ENSG00000138246
COSMIC: DNAJC13

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000138246ENST00000260818O75165
ENSG00000138246ENST00000506813H0Y8Q2
ENSG00000138246ENST00000509279H0YA63
ENSG00000138246ENST00000650455A0A3B3IRM0

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
242183642014DNAJC13 mutations in Parkinson disease.80
161793502005The DnaJ-domain protein RME-8 functions in endosomal trafficking.41
246434992014RME-8 coordinates the activity of the WASH complex with the function of the retromer SNX dimer to control endosomal tubulation.32
182565112008Human RME-8 is involved in membrane trafficking through early endosomes.19
183079932008RME-8 regulates trafficking of the epidermal growth factor receptor.13
253937192015DNAJC13 genetic variants in parkinsonism.13
255507922014Tumor suppressive microRNA-193b promotes breast cancer progression via targeting DNAJC13 and RAB22A.12
272365982016Analysis of DNAJC13 mutations in French-Canadian/French cohort of Parkinson's disease.12
251180252015VPS35 and DNAJC13 disease-causing variants in essential tremor.7
251867922014Clinical, positron emission tomography, and pathological studies of DNAJC13 p.N855S Parkinsonism.6

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-(dnaj-heat-shock-protein-family-(hsp40)-member-c13)