DNAJB6

Chr 7q36.3

DnaJ heat shock protein family (Hsp40) member B6

Aliases:: MRJ
MANE:: ENST00000262177.9

OMIM: 611332 ↗NCBI: 10049 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

DNAJB6 · O75190

v62025-08-01

Predicted Aligned Error matrix for DNAJB6 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

63.0/ 100

Low

326 residues

Confidence breakdown

Very high(≥ 90)10%
Confident(70–90)32%
Low(50–70)18%
Very low(< 50)40%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Distal myopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Arthrogryposis
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Congenital myopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
0.77
Autosomal dominant limb-girdle muscular dystrophy type 1D
0.74
Autosomal dominant limb-girdle muscular dystrophy
0.46
muscular dystrophy, limb-girdle, autosomal dominant
0.41
neurodegenerative disease
0.36
Abnormality of the musculature
0.34
Abnormality of the cardiovascular system
0.31
gastric cancer
0.31
respiratory system disorder
0.28
dementia
0.28

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

DnaJ homolog subfamily B member 6

Has a stimulatory effect on the ATPase activity of HSP70 in a dose-dependent and time-dependent manner and hence acts as a co-chaperone of HSP70 (PubMed:10954706, PubMed:28233300). Plays an indispensable role in the organization of KRT8/KRT18 filaments (PubMed:10954706). Acts as an endogenous molecular chaperone for neuronal proteins including huntingtin (PubMed:11896048, PubMed:22366786). Suppresses aggregation and toxicity of polyglutamine-containing, aggregation-prone proteins (PubMed:20159555, PubMed:22366786). Also reduces cellular toxicity and caspase-3 activity (PubMed:11896048)