DNAJC12 (DnaJ heat shock protein family (Hsp40) member C12)

2007-04-01  

Identity

HGNC
DNAJC12
LOCATION
10q21.3
LOCUSID
56521
ALIAS
HPANBH4,JDP1

Other Information

Locus ID:

NCBI: 56521
MIM: 606060
HGNC: 28908
Ensembl: ENSG00000108176

Variants:

dbSNP: 56521
ClinVar: 56521
TCGA: ENSG00000108176
COSMIC: DNAJC12

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000108176ENST00000225171Q9UKB3
ENSG00000108176ENST00000225171Q6IAH1
ENSG00000108176ENST00000339758Q9UKB3
ENSG00000108176ENST00000480180S4R3W0
ENSG00000108176ENST00000480963S4R368
ENSG00000108176ENST00000483798S4R3E2

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100
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

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
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
281326892017Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.18
173737002007Association studies of 23 positional/functional candidate genes on chromosome 10 in late-onset Alzheimer's disease.15
163918382006JDP1 (DNAJC12/Hsp40) expression in breast cancer and its association with estrogen receptor status.8
258051042015Overexpression of DNAJC12 predicts poor response to neoadjuvant concurrent chemoradiotherapy in patients with rectal cancer.8
291743662018DNAJC12 deficiency: A new strategy in the diagnosis of hyperphenylalaninemias.7
288925702017DNAJC12 and dopa-responsive nonprogressive parkinsonism.5
241225532014The co-chaperone DNAJC12 binds to Hsc70 and is upregulated by endoplasmic reticulum stress.4
306671342019Phenylalanine hydroxylase variants interact with the co-chaperone DNAJC12.2
306178702019Increased Expression of DNAJC12 is Associated with Aggressive Phenotype of Gastric Cancer.1

Citation

Dessen P

DNAJC12 (DnaJ heat shock protein family (Hsp40) member C12)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/46717/dnajc12-(dnaj-heat-shock-protein-family-(hsp40)-member-c12)