HSPB1 Chromosome 7

Heat shock protein family B (small) member 1
58 variants 58 Health Risk

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What This Gene Does
This gene encodes a member of the small heat shock protein (HSP20) family of proteins. In response to environmental stress, the encoded protein translocates from the cytoplasm to the nucleus and functions as a molecular chaperone that promotes the correct folding of other proteins. This protein plays an important role in the differentiation of a wide variety of cell types. Expression of this gene is correlated with poor clinical outcome in multiple human cancers, and the encoded protein may promote cancer cell proliferation and metastasis, while protecting cancer cells from apoptosis. Mutations in this gene have been identified in human patients with Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. [provided by RefSeq, Aug 2017]
Gene Info
Gene Group
Small heat shock proteins
Locus Type
gene with protein product
Location
7q11.23
Ensembl
ENSG00000106211
Associated Conditions (13)
Charcot-Marie-Tooth disease axonal type 2F
Inborn genetic diseases
Neuronopathy
distal hereditary motor
type 2B
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4
Ovarian cancer
HSPB1-related disorder
Charcot-Marie-Tooth disease dominant intermediate C
Distal hereditary motor neuropathy type 2
Distal spinal muscular atrophy
HSPB1-related axonal neuropathies
Key Variants
RS1049324
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2F, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2F
Health Risk
RS1064797336
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS11547168
Conflicting classifications of pathogenicity
Neuronopathy, distal hereditary motor, type 2B
Health Risk
RS1173242313
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2F, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2F
Health Risk
RS1405359814
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2F, Charcot-Marie-Tooth disease axonal type 2F
Health Risk
RS1433396777
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2F, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2F
Health Risk
RS145243219
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2F, Charcot-Marie-Tooth disease, Inborn genetic diseases
Health Risk
RS1554614648
Conflicting classifications of pathogenicity
Neuronopathy, distal hereditary motor, type 2B
Health Risk
RS1563651698
Conflicting classifications of pathogenicity
Neuronopathy, distal hereditary motor, type 2B
Health Risk
RS200902768
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2F, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease
Health Risk
RS367662394
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2F, Charcot-Marie-Tooth disease, Inborn genetic diseases
Health Risk
RS367857772
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2F, Neuronopathy, distal hereditary motor
Health Risk
All Variants (58)
RSID Category Clinical Significance Conditions
RS1049324 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2F, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2F
RS1064797336 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS11547168 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor, type 2B
RS1173242313 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2F, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2F
RS1405359814 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2F, Charcot-Marie-Tooth disease axonal type 2F
RS1433396777 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2F, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2F
RS145243219 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2F, Charcot-Marie-Tooth disease, Inborn genetic diseases
RS1554614648 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor, type 2B
RS1563651698 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor, type 2B
RS200902768 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2F, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease
RS367662394 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2F, Charcot-Marie-Tooth disease, Inborn genetic diseases
RS367857772 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2F, Neuronopathy, distal hereditary motor
RS368936457 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2F, Inborn genetic diseases
RS372833436 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor, type 2B
RS375244209 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor, type 2B
RS553127513 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor, type 2B
RS558882005 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor, type 2B
RS747325717 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2F, Charcot-Marie-Tooth disease axonal type 2F
RS748762287 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2F, Charcot-Marie-Tooth disease axonal type 2F
RS749963653 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor, type 2B
RS753061670 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2F, Charcot-Marie-Tooth disease, Neuronopathy
RS754991269 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2F, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2F
RS756260929 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Inborn genetic diseases, Charcot-Marie-Tooth disease
RS764297134 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2F, Charcot-Marie-Tooth disease axonal type 2F
RS768456339 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2F, Charcot-Marie-Tooth disease dominant intermediate C, Charcot-Marie-Tooth disease axonal type 2F
RS769118115 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2F, Charcot-Marie-Tooth disease
RS770272088 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2F, Charcot-Marie-Tooth disease, Inborn genetic diseases
RS774585320 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor, type 2B
RS777201941 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2F, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2F
RS150110356 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2F, Charcot-Marie-Tooth disease axonal type 2F
RS1583966508 Health Risk Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease
RS1803029816 Health Risk Likely pathogenic —
RS1803069547 Health Risk Likely pathogenic —
RS2536151665 Health Risk Likely pathogenic —
RS557327165 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2F, Charcot-Marie-Tooth disease, Neuronopathy
RS766728475 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2F, Charcot-Marie-Tooth disease axonal type 2F
RS104894020 Health Risk Pathogenic Neuronopathy, distal hereditary motor, type 2B
RS1060503021 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2F, Charcot-Marie-Tooth disease axonal type 2F
RS121909112 Health Risk Pathogenic Neuronopathy, distal hereditary motor, type 2B
RS121909113 Health Risk Pathogenic Neuronopathy, distal hereditary motor, type 2B
RS1583964560 Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease
RS2536149513 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2F, Charcot-Marie-Tooth disease axonal type 2F
RS2536151779 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2F, Charcot-Marie-Tooth disease axonal type 2F
RS28937569 Health Risk Pathogenic Neuronopathy, distal hereditary motor, type 2B
RS28939681 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2F, Charcot-Marie-Tooth disease axonal type 2F
RS29001571 Health Risk Pathogenic Neuronopathy, distal hereditary motor, type 2B
RS896004429 Health Risk Pathogenic —
RS1064795077 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease axonal type 2F, Charcot-Marie-Tooth disease axonal type 2F
RS1064796370 Health Risk Pathogenic/Likely pathogenic Neuronopathy, distal hereditary motor, type 2B
RS1240900244 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2F, Charcot-Marie-Tooth disease
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