HSPB6 (HSP20) Gene
Heat Shock Protein Family B (Small) Member 6
Gene Information Card
| Symbol | HSPB6 |
|---|---|
| Full Name | Heat Shock Protein Family B (Small) Member 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.12 |
| NCBI Gene ID | 126393 ncbi.nlm.nih.gov/gene/126393 |
| Ensembl ID | ENSG00000104879 |
| UniProt ID | O14558 |
| OMIM ID | 608098 |
| HGNC ID | 26511 |
| Aliases | HSP20, FLJ32389 |
Description
HSPB6 (HSP20) encodes a member of the small heat shock protein family (sHSP). The protein functions as a molecular chaperone, protecting cells from stress-induced damage. It is highly expressed in cardiac and skeletal muscle, smooth muscle, and various other tissues. HSPB6 is involved in regulating apoptosis, cell migration, and cytoskeletal dynamics. Mutations and altered expression of HSPB6 have been implicated in cardiomyopathy, cancer, and neurodegenerative disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dilated cardiomyopathy | Loss-of-function mutations impair chaperone activity, leading to protein aggregation and cardiac dysfunction | ClinVar, OMIM |
| Breast cancer | Downregulation of HSPB6 promotes cell proliferation and metastasis via altered apoptosis and cytoskeletal remodeling | COSMIC, PubMed |
| Colorectal cancer | Reduced expression correlates with poor prognosis; HSPB6 inhibits tumor growth through chaperone-mediated signaling | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 78.5 | High |
| Skeletal muscle | 62.3 | High |
| Smooth muscle | 45.1 | Medium |
| Brain | 12.4 | Low |
| Liver | 8.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 5.2 | Low expression |
| HCT116 (colorectal) | 3.8 | Low expression |
| HeLa (cervical) | 15.6 | Moderate expression |
| K562 (leukemia) | 22.1 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.59C>T (p.Pro20Leu) | Missense | Rare | Loss of chaperone function; associated with dilated cardiomyopathy |
| c.421G>A (p.Glu141Lys) | Missense | Rare | Impaired protein stability; linked to cardiomyopathy |
| c.1A>G (p.Met1?) | Start loss | Very rare | Complete loss of protein; pathogenic |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations reduce or abolish chaperone activity, leading to protein aggregation and cellular stress.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Some missense variants may exert dominant-negative effects by interfering with wild-type HSPB6 oligomerization.
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • identical protein binding |
| • chaperone binding | • unfolded protein binding |
| • cytosol | • nucleus |
| • cytoplasm | • stress granule |
| • response to heat | • negative regulation of apoptotic process |
| • protein homooligomerization |
Pathways
• Heat shock response (HSF1 activation)
• p53 signaling pathway
• Apoptosis modulation
• Cytoskeletal remodeling
Protein Summary
HSPB6 (HSP20) is a 17 kDa small heat shock protein that forms oligomers and functions as a molecular chaperone. It is constitutively expressed in muscle tissues and induced under stress. The protein protects cells from apoptosis, stabilizes the cytoskeleton, and modulates signaling pathways. Post-translational phosphorylation at Ser16 regulates its anti-apoptotic and chaperone activities.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HSPB6 Knockout HEK293 Cell Line | EDJ-KQ8913 | Human | 126393 | Details Get a Quote |
| HSPB6 Knockout HeLa Cell Line | EDJ-KQ58175 | Human | 126393 | Details Get a Quote |
| HSPB6 Knockout A-549 Cell Line | EDJ-KQ66664 | Human | 126393 | Details Get a Quote |
| HSPB6 Knockout HCT 116 Cell Line | EDJ-KQ75082 | Human | 126393 | Details Get a Quote |
