HSPB3

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) Band 5q11.2 Start 54,455,699 bp End 54,456,377 bp
Gene location (Mouse) Chr. Chromosome 13 (mouse) Band 13|13 D2.2 Start 113,799,432 bp End 113,800,212 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right ventricle triceps brachii muscle biceps brachii thoracic diaphragm gastrocnemius muscle quadriceps femoris muscle vastus lateralis muscle tibialis anterior muscle vena cava deltoid muscle 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
Wikidata
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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.

Function

This gene encodes a muscle-specific small heat shock protein.

Clinical significance

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

Further reading

• Fontaine JM, Sun X, Benndorf R, Welsh MJ (November 2005). "Interactions of HSP22 (HSPB8) with HSP20, alphaB-crystallin, and HSPB3". Biochemical and Biophysical Research Communications. 337 (3): 1006–11. doi:10.1016/j.bbrc.2005.09.148. PMID 16225851.
• Kolb SJ, Snyder PJ, Poi EJ, Renard EA, Bartlett A, Gu S, Sutton S, Arnold WD, Freimer ML, Lawson VH, Kissel JT, Prior TW (February 2010). "Mutant small heat shock protein B3 causes motor neuropathy: utility of a candidate gene approach". Neurology. 74 (6): 502–6. doi:10.1212/WNL.0b013e3181cef84a. PMID 20142617.
• Lam WY, Wing Tsui SK, Law PT, Luk SC, Fung KP, Lee CY, Waye MM (November 1996). "Isolation and characterization of a human heart cDNA encoding a new member of the small heat shock protein family--HSPL27". Biochimica et Biophysica Acta (BBA) - Molecular Cell Research. 1314 (1–2): 120–4. doi:10.1016/S0167-4889(96)00121-8. PMID 8972725.
• Vos MJ, Kanon B, Kampinga HH (August 2009). "HSPB7 is a SC35 speckle resident small heat shock protein". Biochimica et Biophysica Acta (BBA) - Molecular Cell Research. 1793 (8): 1343–53. doi:10.1016/j.bbamcr.2009.05.005. PMID 19464326.
• Sugiyama Y, Suzuki A, Kishikawa M, Akutsu R, Hirose T, Waye MM, Tsui SK, Yoshida S, Ohno S (January 2000). "Muscle develops a specific form of small heat shock protein complex composed of MKBP/HSPB2 and HSPB3 during myogenic differentiation". The Journal of Biological Chemistry. 275 (2): 1095–104. doi:10.1074/jbc.275.2.1095. PMID 10625651.
• Boelens WC, Van Boekel MA, De Jong WW (November 1998). "HspB3, the most deviating of the six known human small heat shock proteins". Biochimica et Biophysica Acta (BBA) - Protein Structure and Molecular Enzymology. 1388 (2): 513–6. doi:10.1016/S0167-4838(98)00215-5. PMID 9858786.
• Asthana A, Raman B, Ramakrishna T, Rao ChM (September 2012). "Structural aspects and chaperone activity of human HspB3: role of the "C-terminal extension"". Cell Biochemistry and Biophysics. 64 (1): 61–72. doi:10.1007/s12013-012-9366-x. PMID 22610661.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.