DNAJB6 (DnaJ heat shock protein family (Hsp40) member B6)

2008-08-01 Affiliation

Identity

HGNC

DNAJB6

LOCATION

7q36.3

LOCUSID

10049

ALIAS

DJ4,DnaJ,HHDJ1,HSJ-2,HSJ2,LGMD1D,LGMD1E,LGMDD1,MRJ,MSJ-1

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 10049
MIM: 611332
HGNC: 14888
Ensembl: ENSG00000105993

Variants:

dbSNP: 10049
ClinVar: 10049
TCGA: ENSG00000105993
COSMIC: DNAJB6

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000105993	ENST00000262177	O75190
ENSG00000105993	ENST00000412557	C9JDX6
ENSG00000105993	ENST00000417758	C9J2C4
ENSG00000105993	ENST00000429029	O75190
ENSG00000105993	ENST00000437030	C9JB42
ENSG00000105993	ENST00000439402	C9JN01
ENSG00000105993	ENST00000441291	F8WCZ4
ENSG00000105993	ENST00000441561	C9J2P2
ENSG00000105993	ENST00000443280	E9PH18
ENSG00000105993	ENST00000453383	C9JDR7
ENSG00000105993	ENST00000459889	A0A0J9YX62
ENSG00000105993	ENST00000634080	A0A0J9YX62

Expression (GTEx)

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

Pathway	Source	External ID
Cellular responses to stress	REACTOME	R-HSA-2262752
Cellular response to heat stress	REACTOME	R-HSA-3371556
Regulation of HSF1-mediated heat shock response	REACTOME	R-HSA-3371453

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
20159555	2010	A DNAJB chaperone subfamily with HDAC-dependent activities suppresses toxic protein aggregation.	109
22366786	2012	Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy.	89
22334415	2012	Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy.	54
12069690	2002	The human DnaJ homologue (Hdj)-1/heat-shock protein (Hsp) 40 co-chaperone is required for the in vivo stabilization of the cystic fibrosis transmembrane conductance regulator by Hsp70.	52
25217638	2014	Interaction of the molecular chaperone DNAJB6 with growing amyloid-beta 42 (Aβ42) aggregates leads to sub-stoichiometric inhibition of amyloid formation.	42
11896048	2002	Characterization of a brain-enriched chaperone, MRJ, that inhibits Huntingtin aggregation and toxicity independently.	41
18328103	2008	Large isoform of MRJ (DNAJB6) reduces malignant activity of breast cancer.	40
16260608	2005	The DnaJ-related factor Mrj interacts with nuclear factor of activated T cells c3 and mediates transcriptional repression through class II histone deacetylase recruitment.	39
23612975	2013	The DNAJB6 and DNAJB8 protein chaperones prevent intracellular aggregation of polyglutamine peptides.	37
23904097	2014	DNAJB6 is a peptide-binding chaperone which can suppress amyloid fibrillation of polyglutamine peptides at substoichiometric molar ratios.	26

Citation

Dessen P

DNAJB6 (DnaJ heat shock protein family (Hsp40) member B6)

Atlas Genet Cytogenet Oncol Haematol. 2008-08-01

Online version: http://atlasgeneticsoncology.org/gene/50288/dnajb6