HSPB8

Heat shock protein beta-8 is a protein that in humans is encoded by the HSPB8 gene.^[5][6][7]

HSPB8
Identifiers
Aliases	HSPB8, CMT2L, DHMN2, E2IG1, H11, HMN2, HMN2A, HSP22, heat shock protein family B (small) member 8
External IDs	OMIM: 608014; MGI: 2135756; HomoloGene: 8654; GeneCards: HSPB8; OMA:HSPB8 - orthologs
Gene location (Human) Chr. Chromosome 12 (human)[1] Band 12q24.23 Start 119,171,555 bp[1] End 119,224,855 bp[1]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5 F|5 56.41 cM Start 116,546,550 bp[2] End 116,560,923 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Skeletal muscle tissue of rectus abdominis gastric mucosa gastrocnemius muscle muscle of thigh left ventricle right auricle of heart right ventricle glutes body of tongue apex of heart Top expressed in gastrula muscle of thigh facial motor nucleus right ventricle decidua gastrocnemius muscle lip triceps brachii muscle ankle myocardium of ventricle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein kinase activity protein binding identical protein binding protein homodimerization activity Cellular component cytoplasm intracellular anatomical structure nucleus nucleoplasm cytosol chaperone complex Biological process regulation of cellular response to heat biological process protein phosphorylation Unfolded Protein Response positive regulation of aggrephagy Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 26353 80888 Ensembl ENSG00000152137 ENSMUSG00000041548 UniProt Q9UJY1 Q9JK92 RefSeq (mRNA) NM_014365 NM_030704 RefSeq (protein) NP_055180 NP_109629.1 Location (UCSC) Chr 12: 119.17 – 119.22 Mb Chr 5: 116.55 – 116.56 Mb PubMed search [3] [4]
Wikidata
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Interactions

HSPB8 has been shown to interact with:

• HSPB2,^[8][9] and
• Hsp27.^[8][10]

Clinical importance

Mutations in this gene have been associated with an autosomal dominant rimmed vacuolar myopathy^[11] The clinical features of this condition are distal and proximal myopathy. MRI show severe relatively symmetric multifocal fatty degenerative changes within the muscles. Muscle biopsy shows rimmed vacuoles, muscle fiber atrophy and endomysial fibrosis.