AlphaFold predicted structure
HSPB8 · Q9UJY1
Mean pLDDT
68.3/ 100
Low
196 residues
Confidence breakdown
- Very high(≥ 90)37%
- Confident(70–90)3%
- Low(50–70)31%
- Very low(< 50)29%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
HSPB8
Chr 12q24.23heat shock protein family B (small) member 8
- Aliases:
- H11, E2IG1, HSP22, CMT2L
- MANE:
- ENST00000281938.7
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Distal myopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedHereditary neuropathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownHereditary neuropathy or pain disorder
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownPaediatric motor neuronopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedAdult onset neurodegenerative disorder
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Disease associations (Open Targets)
Charcot-Marie-Tooth disease axonal type 2L
0.68myopathy, myofibrillar, 13, with rimmed vacuoles
0.62Autosomal dominant Charcot-Marie-Tooth disease type 2L
0.60distal myopathy
0.44distal hereditary motor neuropathy type 2
0.37neuronopathy, distal hereditary motor, autosomal dominant
0.37myopathy, autophagic vacuolar, infantile-onset
0.35hereditary disease
0.34male reproductive organ cancer
0.31Charcot-Marie-Tooth disease
0.17
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Heat shock protein beta-8
Involved in the chaperone-assisted selective autophagy (CASA), a crucial process for protein quality control, particularly in mechanical strained cells and tissues such as muscle. Displays temperature-dependent chaperone activity