HSPB8
Identifiers
AliasesHSPB8, CMT2L, DHMN2, E2IG1, H11, HMN2, HMN2A, HSP22, heat shock protein family B (small) member 8
External IDsOMIM: 608014 MGI: 2135756 HomoloGene: 8654 GeneCards: HSPB8
Orthologs
SpeciesHumanMouse
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 MbChr 5: 116.55 – 116.56 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

Interactions

HSPB8 has been shown to interact with:


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.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000152137 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000041548 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Smith CC, Yu YX, Kulka M, Aurelian L (Sep 2000). "A novel human gene similar to the protein kinase (PK) coding domain of the large subunit of herpes simplex virus type 2 ribonucleotide reductase (ICP10) codes for a serine-threonine PK and is expressed in melanoma cells". J Biol Chem. 275 (33): 25690–9. doi:10.1074/jbc.M002140200. PMID 10833516.
  6. Charpentier AH, Bednarek AK, Daniel RL, Hawkins KA, Laflin KJ, Gaddis S, MacLeod MC, Aldaz CM (Nov 2000). "Effects of estrogen on global gene expression: identification of novel targets of estrogen action". Cancer Res. 60 (21): 5977–83. PMID 11085516.
  7. "Entrez Gene: HSPB8 Heat shock 22kDa protein 8".
  8. 1 2 Sun X, Fontaine JM, Rest JS, Shelden EA, Welsh MJ, Benndorf R (Jan 2004). "Interaction of human HSP22 (HSPB8) with other small heat shock proteins". J. Biol. Chem. 279 (4): 2394–402. doi:10.1074/jbc.M311324200. PMID 14594798.
  9. Benndorf R, Sun X, Gilmont RR, Biederman KJ, Molloy MP, Goodmurphy CW, Cheng H, Andrews PC, Welsh MJ (Jul 2001). "HSP22, a new member of the small heat shock protein superfamily, interacts with mimic of phosphorylated HSP27 ((3D)HSP27)". J. Biol. Chem. 276 (29): 26753–61. doi:10.1074/jbc.M103001200. PMID 11342557.
  10. Irobi J, Van Impe K, Seeman P, Jordanova A, Dierick I, Verpoorten N, Michalik A, De Vriendt E, Jacobs A, Van Gerwen V, Vennekens K, Mazanec R, Tournev I, Hilton-Jones D, Talbot K, Kremensky I, Van Den Bosch L, Robberecht W, Van Vandekerckhove J, Van Broeckhoven C, Gettemans J, De Jonghe P, Timmerman V (Jun 2004). "Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy". Nat. Genet. 36 (6): 597–601. doi:10.1038/ng1328. PMID 15122253.
  11. Al-Tahan S, Weiss L, Yu H, Tang S, Saporta M, Vihola A, Mozaffar T, Udd B, Kimonis V (2019) New family with HSPB8-associated autosomal dominant rimmed vacuolar myopathy. Neurol Genet 5(4):e349

Further reading


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