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
380145882024DNAJC12 in Monoamine Metabolism, Neurodevelopment, and Neurodegeneration.0
383067572024DNAJC12 causes breast cancer chemotherapy resistance by repressing doxorubicin-induced ferroptosis and apoptosis via activation of AKT.0
380145882024DNAJC12 in Monoamine Metabolism, Neurodevelopment, and Neurodegeneration.0
383067572024DNAJC12 causes breast cancer chemotherapy resistance by repressing doxorubicin-induced ferroptosis and apoptosis via activation of AKT.0
368974622023Restless legs syndrome in DNAJC12 deficiency.2
372832502023A rare cause of hyperphenylalaninemia: four cases from a single family with DNAJC12 deficiency.1
368974622023Restless legs syndrome in DNAJC12 deficiency.2
372832502023A rare cause of hyperphenylalaninemia: four cases from a single family with DNAJC12 deficiency.1
339078202021DNAJC12 promotes lung cancer growth by regulating the activation of β‑catenin.6
340144432021DNACJ12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant.2
339078202021DNAJC12 promotes lung cancer growth by regulating the activation of β‑catenin.6
340144432021DNACJ12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant.2
323334392020Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia.10
323334392020Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia.10
306178702019Increased Expression of DNAJC12 is Associated with Aggressive Phenotype of Gastric Cancer.16

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/haematological-explorer/js/web-card-_common.js