DNAJB2

Chr 2q35

DnaJ heat shock protein family (Hsp40) member B2

Aliases:: HSPF3, CMT2T
MANE:: ENST00000336576.10

OMIM: 604139 ↗NCBI: 3300 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

DNAJB2 · P25686

v62025-08-01

Predicted Aligned Error matrix for DNAJB2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

67.4/ 100

Low

324 residues

Confidence breakdown

Very high(≥ 90)24%
Confident(70–90)24%
Low(50–70)24%
Very low(< 50)28%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Adult onset neurodegenerative disorder
BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy
BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder
BIALLELIC, autosomal or pseudoautosomal
Paediatric motor neuronopathies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neuronopathy, distal hereditary motor, autosomal recessive 5
0.76
Spinal muscular atrophy with respiratory distress type 1
0.65
Charcot-Marie-Tooth disease axonal type 2T
0.50
hereditary disease
0.47
charcot-marie-tooth disease, axonal, type 2t
0.46
X-linked Charcot-Marie-Tooth disease type 1
0.34
Charcot-Marie-Tooth disease X-linked dominant 1
0.34
neurodegenerative disease
0.33
Charcot-Marie-Tooth disease
0.18
autosomal recessive distal spinal muscular atrophy 2
0.15

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

Protein function (UniProt)

DnaJ homolog subfamily B member 2

Functions as a co-chaperone, regulating the substrate binding and activating the ATPase activity of chaperones of the HSP70/heat shock protein 70 family (PubMed:22219199, PubMed:7957263). In parallel, also contributes to the ubiquitin-dependent proteasomal degradation of misfolded proteins (PubMed:15936278, PubMed:21625540). Thereby, may regulate the aggregation and promote the functional recovery of misfolded proteins like HTT, MC4R, PRKN, RHO and SOD1 and be crucial for many biological processes (PubMed:12754272, PubMed:20889486, PubMed:21719532, PubMed:22396390, PubMed:24023695). Isoform 1 which is localized to the endoplasmic reticulum membranes may specifically function in ER-associated protein degradation of misfolded proteins (PubMed:15936278)