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

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8988
Gene name Gene Name - the full gene name approved by the HGNC.
Heat shock protein family B (small) member 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HSPB3
Synonyms (NCBI Gene) Gene synonyms aliases
DHMN2C, HMN2C, HMND4, HSPL27
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q11.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(8)
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
604624 5248 ENSG00000169271
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Distal Hereditary Motor Neuronopathy Neuronopathy, distal hereditary motor, type 2C, distal hereditary motor neuropathy type 2 N/A N/A ClinVar, GenCC
Distal Spinal Muscular Atrophy distal spinal muscular atrophy N/A N/A ClinVar
Show/Hide Text Mining Associations (14)
Associations from Text Mining Disease 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