• Gene id: 8988

Gene Summary

• Gene Symbol: HSPB3   Gene   UCSC   Ensembl
• Aliases: DHMN2C, HMN2C, HSPL27
• Gene name: heat shock protein family B (small) member 3
• Alternate names: heat shock protein beta-3, HSP 17, heat shock 17 kDa protein, heat shock 27kDa protein 3, protein 3,
• Gene location: 5q11.2 (54455698: 54456376)     Exons: 1     NC_000005.10
• Gene summary(Entrez): This gene encodes a muscle-specific small heat shock protein. A mutation in this gene is the cause of autosomal dominant distal hereditary motor neuropathy type 2C.[provided by RefSeq, Sep 2010]
• OMIM: 300904

Protein Summary

• Protein general information: Q12988  
  • Name: Heat shock protein beta 3 (HspB3) (Heat shock 17 kDa protein) (HSP 17) (Protein 3)
  • Length: 150  
  • Mass: 16966
• Sequence:

  MAKIILRHLIEIPVRYQEEFEARGLEDCRLDHALYALPGPTIVDLRKTRAAQSPPVDSAAETPPREGKSHFQILL
  DVVQFLPEDIIIQTFEGWLLIKAQHGTRMDEHGFISRSFTRQYKLPDGVEIKDLSAVLCHDGILVVEVKDPVGTK

• Structural information:
  • Protein Domains: (47..15-)
    (/note="sHSP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00285"-)
  • Interpro: IPR002068  IPR001436  IPR008978  IPR033894  
  • Prosite: PS01031
  • CDD: cd06477
  • PDB: 6F2R
  • PDBsum: 6F2R
  • STRING: ENSP00000303394
• Other Databases: GeneCards:  HSPB3  Malacards:  HSPB3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016607	nuclear speck	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006986	response to unfolded protein	TAS	biological process
GO:0006986	response to unfolded protein	TAS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016607	nuclear speck	IDA	cellular component

Diseases

Associated diseases	References
Distal hereditary motor neuropathies	KEGG:H00856
Distal hereditary motor neuropathies	KEGG:H00856
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881