• Gene id: 26353

Gene Summary

• Gene Symbol: HSPB8   Gene   UCSC   Ensembl
• Aliases: CMT2L, DHMN2, E2IG1, H11, HMN2, HMN2A, HSP22
• Gene name: heat shock protein family B (small) member 8
• Alternate names: heat shock protein beta-8, E2-induced gene 1 protein, alpha-crystallin C chain, heat shock 22kDa protein 8, heat shock 27kDa protein 8, protein kinase H11, small stress protein-like protein HSP22,
• Gene location: 12q24.23 (119178930: 119194745)     Exons: 3     NC_000012.12
• Gene summary(Entrez): The protein encoded by this gene belongs to the superfamily of small heat-shock proteins containing a conservative alpha-crystallin domain at the C-terminal part of the molecule. The expression of this gene in induced by estrogen in estrogen receptor-posi

Protein Summary

• Protein general information: Q9UJY1  
  • Name: Heat shock protein beta 8 (HspB8) (Alpha crystallin C chain) (E2 induced gene 1 protein) (Protein kinase H11) (Small stress protein like protein HSP22)
  • Length: 196  
  • Mass: 21604
  • Tissue specificity: Predominantly expressed in skeletal muscle and heart. {ECO
• Sequence:

  MADGQMPFSCHYPSRLRRDPFRDSPLSSRLLDDGFGMDPFPDDLTASWPDWALPRLSSAWPGTLRSGMVPRGPTA
  TARFGVPAEGRTPPPFPGEPWKVCVNVHSFKPEELMVKTKDGYVEVSGKHEEKQQEGGIVSKNFTKKIQLPAEVD
  PVTVFASLSPEGLLIIEAPQVPPYSTFGESSFNNELPQDSQEVTCT

• Structural information:
  • Protein Domains: (74..18-)
    (/note="sHSP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00285"-)
  • Interpro: IPR002068  IPR001436  IPR008978  IPR042790  
  • Prosite: PS01031
  • CDD: cd06480
  • STRING: ENSP00000281938
• Other Databases: GeneCards:  HSPB8  Malacards:  HSPB8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0101031	chaperone complex	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1905337	positive regulation of aggrephagy	IMP	biological process
GO:0034620	cellular response to unfolded protein	IMP	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0034620	cellular response to unfolded protein	IBA	biological process
GO:0101031	chaperone complex	IBA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042803	protein homodimerization activity	IEA	molecular function
GO:0034620	cellular response to unfolded protein	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:1900034	regulation of cellular response to heat	TAS	biological process
GO:0005622	intracellular	IDA	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0006468	protein phosphorylation	IEA	biological process
GO:0004672	protein kinase activity	IDA	NOT|molecular function

Diseases

Associated diseases	References
Charcot-Marie-Tooth disease	KEGG:H00264
Distal hereditary motor neuropathies	KEGG:H00856
Charcot-Marie-Tooth disease	KEGG:H00264
Distal hereditary motor neuropathies	KEGG:H00856
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881