HSPB3 Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
HSPB3
Official Name
heat shock protein family B (small) member 3 [Source:HGNC Symbol;Acc:HGNC:5248]
Ensembl ID
ENSG00000169271
Bio databases IDs NCBI: 8988 Ensembl: ENSG00000169271
Aliases heat shock protein family B (small) member 3
Synonyms 2310035K17Rik, DHMN2C, heat shock protein 3, heat shock protein family B (small) member 3, HMN2C, HMND4, Hsbp3, HSPL27, spb3
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human HSPB3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • alpha-crystallin Hsps/p23-like
  • Hsp20/alpha crystallin family

Pathways

Biological processes and signaling networks where the HSPB3 gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • epileptic seizure
  • Alzheimer disease
  • androgenic alopecia
  • distal hereditary motor neuronopathy type IIC
  • Charcot-Marie-Tooth disease type 2
  • oral submucous fibrosis
regulated by
role in cell
  • production in
  • aggregation in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • Nucleus
  • nuclear speckles

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human HSPB3 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • response to unfolded protein

Cellular Component

Where in the cell the gene product is active
  • nucleus
  • cytoplasm
  • nuclear speck

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.