HSPB3 (heat shock protein family B (small) member 3)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 8988
Gene name Heat shock protein family B (small) member 3
Gene symbol HSPB3
Synonyms (NCBI Gene)
DHMN2CHMN2CHMND4HSPL27
Chromosome 5
Chromosome location 5q11.2
Summary 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]
SNPs SNP information provided by dbSNP.
1
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1)
SNP ID Visualize variation Clinical significance Consequence
rs139382018 G>T Likely-benign, pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
2
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (2)
miRTarBase ID miRNA Experiments Reference
MIRT017068 hsa-miR-335-5p Microarray 18185580
MIRT2012965 hsa-miR-548c-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0005634 Component Nucleus IDA 19464326
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IDA 19464326
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
604624 5248 ENSG00000169271
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q12988
Protein name Heat shock protein beta-3 (HspB3) (Heat shock 17 kDa protein) (HSP 17) (Heat shock protein family B member 3) (Protein 3)
Protein function Inhibitor of actin polymerization.
PDB 6F2R
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00011 HSP20 64 → 150 Hsp20/alpha crystallin family Family
Sequence 
MAKIILRHLIEIPVRYQEEFEARGLEDCRLDHALYALPGPTIVDLRKTRAAQSPPVDSAA
ETPPREGKSHFQILLDVVQFLPEDIIIQTFEGWLLIKAQHGTRMDEHGFISRSFTRQYKL
PDGVEIKDLSAVLCHDGILVVEVKDPVGTK
Sequence length 150
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (3)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Charcot-Marie-Tooth disease type 2 Conflicting classifications of pathogenicity rs142626276 RCV002221180
Distal spinal muscular atrophy Uncertain significance; Likely benign; Benign rs563501231, rs564437576, rs577774043 RCV004576948
RCV004576950
RCV004576949
Neuronopathy, distal hereditary motor, type 2C Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity rs769845878, rs1761039858, rs2112802922, rs372042812, rs777949955, rs369890201, rs2112803288, rs1203075373, rs372203645, rs200180930, rs779847627, rs139382018, rs754783853, rs142691743, rs374682239
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Show/Hide Text Mining Associations (14)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 34556089
Ascites Associate 19744347
Calcinosis Cutis Associate 19744347
Carcinoma Ovarian Epithelial Associate 19744347
Distal Hereditary Motor Neuropathy Type II Associate 35328016
Hereditary Sensory and Motor Neuropathy Associate 35328016
Inherited Peripheral Neuropathy Associate 35328016
Muscular Diseases Associate 28854361, 33958580
Neoplasms Associate 19744347, 25798051
Neuromuscular Diseases Associate 33958580