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Protein Coding Gene : Hspb8 heat shock protein 8

Primary Identifier  MGI:2135756 Organism  mouse, laboratory
Chromosome  5 NCBI Gene Number  80888
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0)

Predicted to enable protein homodimerization activity. Predicted to be involved in cellular response to unfolded protein and positive regulation of aggrephagy. Predicted to be located in cytosol and nucleoplasm. Predicted to be part of protein folding chaperone complex. Predicted to be active in cytoplasm and nucleus. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease axonal type 2L. Orthologous to human HSPB8 (heat shock protein family B (small) member 8).
PHENOTYPE: When exposed to pressure overload, mice homozygous for a knock-out allele develop less hypertrophy and display ventricular dilation, impaired contractile function, increased myocyte length and accumulation of interstitial collagen, accelerated transitioninto heart failure, and increased mortality. [provided by MGI curators]
  • synonyms:
  • expressed sequence AW413033,
  • crystallin, alpha C,
  • MGI:2141190,
  • Hspb8,
  • Cryac,
  • E2IG1,
  • DNA segment, Chr 5, University of California at Los Angeles 4,
  • heat shock protein 8,
  • H11K,
  • AU018630,
  • AW413033,
  • D5Ucla4,
  • MGI:2141037,
  • MGI:93475,
  • H11,
  • HSP22,
  • expressed sequence AU018630,
  • MGD-MRK-7380,
  • HSP20-like

Features --> Cross References

Genome

Sequence Feature Displayer

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

2 Involved In Mutations

0 Strain

0 Transcripts

1 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

4 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

Other

0 Driver For