HSPB8 Chromosome 12
Heat shock protein family B (small) member 8
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What This Gene Does
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]
Gene Info
Gene Group
Small heat shock proteins
Locus Type
gene with protein product
Location
12q24.23
Ensembl
ENSG00000152137
Associated Conditions (15)
Neuronopathy
distal hereditary motor
type 2A
Charcot-Marie-Tooth disease axonal type 2L
Inborn genetic diseases
Charcot-Marie-Tooth disease
Ovarian serous cystadenocarcinoma
Distal myopathy
Myopathy
myofibrillar
13
with rimmed vacuoles
HSPB8-related neuromuscular disorder
autophagic vacuolar
infantile-onset
Key Variants
RS1011669872
Conflicting classifications of pathogenicity
Neuronopathy, distal hereditary motor, type 2A
Health Risk
RS141871482
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2L, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2L
Health Risk
RS146900850
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2L, Neuronopathy, distal hereditary motor
Health Risk
RS1565929090
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2L, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2L
Health Risk
RS35909818
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2L, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2L
Health Risk
RS368810689
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2L, Neuronopathy, distal hereditary motor
Health Risk
RS373049356
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2L, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2L
Health Risk
RS1565929080
Likely pathogenic
Neuronopathy, distal hereditary motor, type 2A
Health Risk
RS1565930588
Likely pathogenic
Distal myopathy, Distal myopathy
Health Risk
RS1954680920
Likely pathogenic
Health Risk
RS1954727159
Likely pathogenic
Inborn genetic diseases, Myopathy, myofibrillar
Health Risk
RS104894345
Pathogenic
Neuronopathy, distal hereditary motor, type 2A
Health Risk
All Variants (17)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1011669872 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, type 2A |
| RS141871482 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2L, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2L |
| RS146900850 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2L, Neuronopathy, distal hereditary motor |
| RS1565929090 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2L, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2L |
| RS35909818 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2L, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2L |
| RS368810689 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2L, Neuronopathy, distal hereditary motor |
| RS373049356 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease axonal type 2L, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2L |
| RS1565929080 | Health Risk | Likely pathogenic | Neuronopathy, distal hereditary motor, type 2A |
| RS1565930588 | Health Risk | Likely pathogenic | Distal myopathy, Distal myopathy |
| RS1954680920 | Health Risk | Likely pathogenic | — |
| RS1954727159 | Health Risk | Likely pathogenic | Inborn genetic diseases, Myopathy, myofibrillar |
| RS104894345 | Health Risk | Pathogenic | Neuronopathy, distal hereditary motor, type 2A |
| RS104894351 | Health Risk | Pathogenic | Neuronopathy, distal hereditary motor, type 2A |
| RS1954727878 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2L, Myopathy, myofibrillar |
| RS2500054682 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2L, Charcot-Marie-Tooth disease axonal type 2L |
| RS1954727678 | Health Risk | Pathogenic/Likely pathogenic | Neuronopathy, distal hereditary motor, type 2A |
| RS2500054710 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2L, Myopathy, autophagic vacuolar |