HSPB3

Heat shock protein beta-3 (HspB3) also known as heat shock 27kDa protein 3 is a protein that in humans is encoded by the HSPB3 gene.^[5]

HSPB3
Identifiers
Aliases	HSPB3, DHMN2C, HMN2C, HSPL27, heat shock protein family B (small) member 3
External IDs	OMIM: 604624; MGI: 1928479; HomoloGene: 31369; GeneCards: HSPB3; OMA:HSPB3 - orthologs
Gene location (Human) Chr. Chromosome 5 (human)[1] Band 5q11.2 Start 54,455,699 bp[1] End 54,456,377 bp[1]
Gene location (Mouse) Chr. Chromosome 13 (mouse)[2] Band 13|13 D2.2 Start 113,799,432 bp[2] End 113,800,212 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right ventricle myocardium of left ventricle apex of heart cardiac muscle tissue of right atrium right auricle of heart triceps brachii muscle biceps brachii Skeletal muscle tissue of biceps brachii thoracic diaphragm Skeletal muscle tissue of rectus abdominis Top expressed in temporal muscle digastric muscle sternocleidomastoid muscle extraocular muscle soleus muscle triceps brachii muscle quadriceps femoris muscle interventricular septum ankle thoracic diaphragm More reference expression data BioGPS n/a
Orthologs Species Human Mouse Entrez 8988 56534 Ensembl ENSG00000169271 ENSMUSG00000051456 UniProt Q12988 Q9QZ57 RefSeq (mRNA) NM_006308 NM_019960 RefSeq (protein) NP_006299 NP_064344 Location (UCSC) Chr 5: 54.46 – 54.46 Mb Chr 13: 113.8 – 113.8 Mb PubMed search [3] [4]
Wikidata
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Function

This gene encodes a muscle-specific small heat shock protein.^[5]

Clinical significance

A mutation in this gene is the cause of autosomal dominant distal hereditary motor neuropathy type 2C.^[5]