HSPB8 Gene Summary [Human]
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-positive breast cancer cells, and this protein also functions as a chaperone in association with Bag3, a stimulator of macroautophagy. Thus, this gene appears to be involved in regulation of cell proliferation, apoptosis, and carcinogenesis, and mutations in this gene have been associated with different neuromuscular diseases, including Charcot-Marie-Tooth disease. [provided by RefSeq, Jul 2008]
Details
| Type | Processed Transcript |
| Official Symbol | HSPB8 |
| Official Name | heat shock protein family B (small) member 8 [Source:HGNC Symbol;Acc:HGNC:30171] |
| Ensembl ID | ENSG00000152137 |
| Bio databases IDs | |
| Aliases | heat shock protein family B (small) member 8 |
| Synonyms | CMT2L, CRYAC, D5Ucla4, DHMN2, E2IG1, H11, H11K, H11 KINASE, heat shock protein 8, heat shock protein family B (small) member 8, HMN2, HMN2A, HMND2, HSP20-like, HSP22, HSPB8-N1, HSPB8-N2, LOC108352462 |
| Species | Human, Homo sapiens |
| Orthologies |
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 HSPB8 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- kinase
- beta strand or sheet
- alpha-crystallin domain
- protein serine/threonine kinase
- catalytic domain
- alpha-crystallin Hsps/p23-like
- protein homodimerization
- Hsp20/alpha crystallin family
- protein binding
- identical protein binding
Pathways
Biological processes and signaling networks where the HSPB8 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
- Alzheimer disease
- bladder cancer
- hereditary disorder
- peripheral neuropathy
- rimmed vacuolar myopathy
- breast carcinoma
- cardiac hypertrophy
- left ventricular dilation
- Charcot-Marie-Tooth disease axonal type 2l
- distal hereditary motor neuropathy type IIA
role in cell
- production in
- cell death
- proliferation
- expression in
- cell viability
- cell cycle progression
- activation in
- apoptosis
- binding in
- growth
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
- Plasma Membrane
- myofilaments
- cytosol
- mitochondrial intermembrane space
- nucleoplasm
- Z line
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HSPB8 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cellular response to unfolded protein
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- cytosol
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein homodimerization activity
- protein binding
- protein kinase activity