DNAJB2 (DnaJ heat shock protein family (Hsp40) member B2)

2007-04-01  

Identity

HGNC
DNAJB2
LOCATION
2q35
LOCUSID
3300
ALIAS
CMT2T,DSMA5,HSJ-1,HSJ1,HSPF3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3300
MIM: 604139
HGNC: 5228
Ensembl: ENSG00000135924

Variants:

dbSNP: 3300
ClinVar: 3300
TCGA: ENSG00000135924
COSMIC: DNAJB2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000135924ENST00000336576P25686
ENSG00000135924ENST00000392086P25686
ENSG00000135924ENST00000392087C9JXB9
ENSG00000135924ENST00000421532E7ETU0
ENSG00000135924ENST00000425450C9JRD2
ENSG00000135924ENST00000439026C9JX00
ENSG00000135924ENST00000442681C9J1G2

Expression (GTEx)

0
50
100
150
200
250
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
Protein processing in endoplasmic reticulumKEGGko04141
Protein processing in endoplasmic reticulumKEGGhsa04141

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
367461032023The heat shock protein DNAJB2 as a novel biomarker for essential thrombocythemia diagnosis associated with immune infiltration.2
367461032023The heat shock protein DNAJB2 as a novel biomarker for essential thrombocythemia diagnosis associated with immune infiltration.2
352867552022DNAJB2-related Charcot-Marie-Tooth disease type 2: Pathomechanism insights and phenotypic spectrum widening.4
352867552022DNAJB2-related Charcot-Marie-Tooth disease type 2: Pathomechanism insights and phenotypic spectrum widening.4
316820092020Whole transcriptome analysis of smoker palatal mucosa identifies multiple downregulated innate immunity genes.2
316820092020Whole transcriptome analysis of smoker palatal mucosa identifies multiple downregulated innate immunity genes.2
280312922017Protein kinase CK2 modulates HSJ1 function through phosphorylation of the UIM2 domain.7
280312922017Protein kinase CK2 modulates HSJ1 function through phosphorylation of the UIM2 domain.7
274494892016Identification of a Large DNAJB2 Deletion in a Family with Spinal Muscular Atrophy and Parkinsonism.27
274494892016Identification of a Large DNAJB2 Deletion in a Family with Spinal Muscular Atrophy and Parkinsonism.27
252748422014HSJ1-related hereditary neuropathies: novel mutations and extended clinical spectrum.22
252748422014HSJ1-related hereditary neuropathies: novel mutations and extended clinical spectrum.22
240236952013Molecular chaperone mediated late-stage neuroprotection in the SOD1(G93A) mouse model of amyotrophic lateral sclerosis.26
240236952013Molecular chaperone mediated late-stage neuroprotection in the SOD1(G93A) mouse model of amyotrophic lateral sclerosis.26
225224422012A rare recessive distal hereditary motor neuropathy with HSJ1 chaperone mutation.35

Citation

Dessen P

DNAJB2 (DnaJ heat shock protein family (Hsp40) member B2)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/46852