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

2007-04-01  

Identity

HGNC
LOCATION
2q35
LOCUSID
ALIAS
CMT2T,DSMA5,HSJ-1,HSJ1,HSPF3
FUSION GENES

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

Pathways

PathwaySourceExternal ID
Protein processing in endoplasmic reticulumKEGGko04141
Protein processing in endoplasmic reticulumKEGGhsa04141

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
166041912006Cystamine and cysteamine increase brain levels of BDNF in Huntington disease via HSJ1b and transglutaminase.67
159362782005HSJ1 is a neuronal shuttling factor for the sorting of chaperone clients to the proteasome.51
127542722003The chaperone environment at the cytoplasmic face of the endoplasmic reticulum can modulate rhodopsin processing and inclusion formation.43
183219532008Gene expression profiling in human skeletal muscle during recovery from eccentric exercise.35
176013502007A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.27
225224422012A rare recessive distal hereditary motor neuropathy with HSJ1 chaperone mutation.22
189772412008Oxidative stress, telomere length and biomarkers of physical aging in a cohort aged 79 years from the 1932 Scottish Mental Survey.20
240236952013Molecular chaperone mediated late-stage neuroprotection in the SOD1(G93A) mouse model of amyotrophic lateral sclerosis.18
274494892016Identification of a Large DNAJB2 Deletion in a Family with Spinal Muscular Atrophy and Parkinsonism.15
252748422014HSJ1-related hereditary neuropathies: novel mutations and extended clinical spectrum.14

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/dnajb2