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] See more...

Aliases for HSPB3 Gene

Aliases for HSPB3 Gene

  • Heat Shock Protein Family B (Small) Member 3 2 3 5
  • Heat Shock 27kDa Protein 3 2 3
  • Heat Shock 17 KDa Protein 3 4
  • Heat Shock Protein Beta-3 3 4
  • Protein 3 3 4
  • HSP 17 3 4
  • HSPL27 3 4
  • Heat Shock 27kD Protein 3 2
  • DHMN2C 3
  • HMN2C 3
  • HSP27 4
  • HspB3 4

External Ids for HSPB3 Gene

Previous GeneCards Identifiers for HSPB3 Gene

  • GC05P053915
  • GC05P055181
  • GC05P053721
  • GC05P053767
  • GC05P053787
  • GC05P050725

Summaries for HSPB3 Gene

Entrez Gene Summary for HSPB3 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]

GeneCards Summary for HSPB3 Gene

HSPB3 (Heat Shock Protein Family B (Small) Member 3) is a Protein Coding gene. Diseases associated with HSPB3 include Neuronopathy, Distal Hereditary Motor, Type Iic and Distal Hereditary Motor Neuronopathy Type 2. An important paralog of this gene is HSPB1.

UniProtKB/Swiss-Prot Summary for HSPB3 Gene

Additional gene information for HSPB3 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HSPB3 Gene

Genomics for HSPB3 Gene

GeneHancer (GH) Regulatory Elements for HSPB3 Gene

Promoters and enhancers for HSPB3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J054454 Promoter/Enhancer 1.2 Ensembl ENCODE dbSUPER 530.7 +1.5 1453 4.5 TCF12 ESRRA ZNF316 ZBTB17 MAFF MAFK GATA3 MAFG FEZF1 GLIS1 HSPB3 SNX18 piR-38423-051
GH05J054514 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.6 +64.8 64794 12 RXRA HNRNPK EP300 CTCF TCF12 POLR2G USF1 SP1 GTF2E2 PHF8 SNX18 piR-31130 MTREX DHX29 ENSG00000226810 HSPB3 GPX8 piR-58197
GH05J054479 Promoter/Enhancer 1 EPDnew Ensembl ENCODE dbSUPER 17.4 +24.8 24817 2 TAF9B ZNF318 SNX18 HSPB3 RF00017-4616 piR-51671-065
GH05J054325 Enhancer 1.3 Ensembl ENCODE dbSUPER 9.7 -130.2 -130200 3.6 GTF2E2 PHB2 ZBTB5 ZBTB11 AFF1 TARDBP REST DNMT1 HES1 TOE1 HSPB3 LINC01033 piR-38352-441
GH05J054313 Enhancer 1.1 Ensembl dbSUPER 9.3 -142.1 -142097 1 ZBTB11 AFF1 NR3C1 MYC CTBP1 NFRKB TAF9B GTF2F1 NCOR1 KDM5B HSPB3 LINC01033 piR-38352-441
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HSPB3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HSPB3

Top Transcription factor binding sites by QIAGEN in the HSPB3 gene promoter:
  • CUTL1
  • E47
  • Meis-1b
  • MyoD
  • NF-E2
  • NF-E2 p45
  • POU6F1 (c2)
  • Tal-1
  • Tal-1beta

Genomic Locations for HSPB3 Gene

Genomic Locations for HSPB3 Gene
chr5:54,455,601-54,456,384
(GRCh38/hg38)
Size:
784 bases
Orientation:
Plus strand
chr5:53,751,431-53,752,214
(GRCh37/hg19)
Size:
784 bases
Orientation:
Plus strand

Genomic View for HSPB3 Gene

Genes around HSPB3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HSPB3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HSPB3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HSPB3 Gene

Proteins for HSPB3 Gene

  • Protein details for HSPB3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q12988-HSPB3_HUMAN
    Recommended name:
    Heat shock protein beta-3
    Protein Accession:
    Q12988

    Protein attributes for HSPB3 Gene

    Size:
    150 amino acids
    Molecular mass:
    16966 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for HSPB3 Gene

neXtProt entry for HSPB3 Gene

Post-translational modifications for HSPB3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HSPB3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HSPB3 Gene

Domains & Families for HSPB3 Gene

Gene Families for HSPB3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for HSPB3 Gene

Blocks:
  • Heat shock protein Hsp20
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for HSPB3 Gene

GenScript: Design optimal peptide antigens:
  • Protein 3 (HSPB3_HUMAN)
  • cDNA, FLJ94950, Homo sapiens heat shock 27kDa protein 3 (HSPB3), mRNA (Q6ICS9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q12988

UniProtKB/Swiss-Prot:

HSPB3_HUMAN :
  • Belongs to the small heat shock protein (HSP20) family.
Family:
  • Belongs to the small heat shock protein (HSP20) family.
genes like me logo Genes that share domains with HSPB3: view

Function for HSPB3 Gene

Molecular function for HSPB3 Gene

UniProtKB/Swiss-Prot Function:
Inhibitor of actin polymerization.
GENATLAS Biochemistry:
heat shock protein 3

Phenotypes From GWAS Catalog for HSPB3 Gene

genes like me logo Genes that share phenotypes with HSPB3: view

Human Phenotype Ontology for HSPB3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HSPB3 Gene

MGI Knock Outs for HSPB3:
  • Hspb3 Hspb3<tm1.1(KOMP)Vlcg>

Animal Model Products

CRISPR Products

miRNA for HSPB3 Gene

miRTarBase miRNAs that target HSPB3

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HSPB3

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for HSPB3 Gene

Localization for HSPB3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HSPB3 Gene

Cytoplasm. Nucleus. Note=Translocates to nuclear foci during heat shock.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HSPB3 gene
Compartment Confidence
nucleus 5
cytosol 4
extracellular 3
cytoskeleton 3
mitochondrion 3
plasma membrane 2
endoplasmic reticulum 2
endosome 2
lysosome 2
golgi apparatus 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HSPB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 19464326
GO:0005737 cytoplasm IEA,IDA 19464326
GO:0016607 nuclear speck IDA --
genes like me logo Genes that share ontologies with HSPB3: view

Pathways & Interactions for HSPB3 Gene

PathCards logo

SuperPathways for HSPB3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for HSPB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006986 response to unfolded protein TAS 8972725
genes like me logo Genes that share ontologies with HSPB3: view

No data available for Pathways by source and SIGNOR curated interactions for HSPB3 Gene

Drugs & Compounds for HSPB3 Gene

(8) Drugs for HSPB3 Gene - From: ApexBio

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Geldanamycin Experimental, Investigational Pharma Hsp90 inhibitor,potent and specific, Selective Hsp90 inhibitor 10
BIIB021 Investigational Pharma Hsp90 inhibitor,selective and competitive 0
AT13387 Pharma Hsp90 inhibitor 0
CH5138303 Pharma 0
HSP990 (NVP-HSP990) Pharma 0

(8) ApexBio Compounds for HSPB3 Gene

Compound Action Cas Number
AT13387 Hsp90 inhibitor 912999-49-6
BIIB021 Hsp90 inhibitor,selective and competitive 848695-25-0
CH5138303 959763-06-5
Geldanamycin Hsp90 inhibitor,potent and specific 30562-34-6
HSP990 (NVP-HSP990) 934343-74-5
NMS-E973 Hsp90 inhibitor,potent and selective 1253584-84-7
VER-49009 558640-51-0
VER-50589 747413-08-7
genes like me logo Genes that share compounds with HSPB3: view

Drug Products

Transcripts for HSPB3 Gene

mRNA/cDNA for HSPB3 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HSPB3

Alternative Splicing Database (ASD) splice patterns (SP) for HSPB3 Gene

No ASD Table

Relevant External Links for HSPB3 Gene

GeneLoc Exon Structure for
HSPB3

Expression for HSPB3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HSPB3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HSPB3 Gene

This gene is overexpressed in Heart - Left Ventricle (x21.5), Heart - Atrial Appendage (x15.7), and Muscle - Skeletal (x8.3).

Protein differential expression in normal tissues from HIPED for HSPB3 Gene

This gene is overexpressed in Tonsil (33.7), Fetal heart (17.2), and Heart (16.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for HSPB3 Gene



Protein tissue co-expression partners for HSPB3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HSPB3

SOURCE GeneReport for Unigene cluster for HSPB3 Gene:

Hs.41707

Evidence on tissue expression from TISSUES for HSPB3 Gene

  • Heart(4.7)
  • Muscle(3.6)
  • Nervous system(2.5)
  • Blood(2.2)
  • Lung(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HSPB3 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • head
Limb:
  • digit
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with HSPB3: view

No data available for mRNA Expression by UniProt/SwissProt for HSPB3 Gene

Orthologs for HSPB3 Gene

This gene was present in the common ancestor of animals.

Orthologs for HSPB3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HSPB3 31 30
  • 99.33 (n)
OneToOne
dog
(Canis familiaris)
Mammalia HSPB3 31 30
  • 89.11 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hspb3 30
  • 86.89 (n)
cow
(Bos Taurus)
Mammalia HSPB3 31 30
  • 86.58 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Hspb3 17 31 30
  • 84.89 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia HSPB3 31
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves HSPB3 31 30
  • 67.12 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HSPB3 31
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hspb3 30
  • 61.43 (n)
zebrafish
(Danio rerio)
Actinopterygii hspb3 31 30
  • 58.58 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Hsp23 31
  • 19 (a)
ManyToMany
CG7409 31
  • 19 (a)
ManyToMany
Hsp26 31
  • 18 (a)
ManyToMany
CG14207 31
  • 18 (a)
ManyToMany
l(2)efl 31
  • 16 (a)
ManyToMany
Hsp67Bc 31
  • 16 (a)
ManyToMany
Hsp27 31
  • 15 (a)
ManyToMany
CG4461 31
  • 15 (a)
ManyToMany
CG13133 31
  • 14 (a)
ManyToMany
Hsp22 31
  • 14 (a)
ManyToMany
Hsp67Ba 31
  • 7 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea hsp-12.2 31
  • 27 (a)
ManyToMany
hsp-12.3 31
  • 25 (a)
ManyToMany
hsp-12.6 31
  • 25 (a)
ManyToMany
hsp-12.1 31
  • 21 (a)
ManyToMany
F08H9.4 31
  • 19 (a)
ManyToMany
hsp-16.1 31
  • 19 (a)
ManyToMany
hsp-16.11 31
  • 19 (a)
ManyToMany
hsp-16.2 31
  • 18 (a)
ManyToMany
F08H9.3 31
  • 17 (a)
ManyToMany
hsp-16.48 31
  • 17 (a)
ManyToMany
hsp-16.49 31
  • 17 (a)
ManyToMany
Y55F3BR.6 31
  • 16 (a)
ManyToMany
hsp-17 31
  • 16 (a)
ManyToMany
sip-1 31
  • 16 (a)
ManyToMany
hsp-16.41 31
  • 15 (a)
ManyToMany
hsp-25 31
  • 14 (a)
ManyToMany
hsp-43 31
  • 7 (a)
ManyToMany
Species where no ortholog for HSPB3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HSPB3 Gene

ENSEMBL:
Gene Tree for HSPB3 (if available)
TreeFam:
Gene Tree for HSPB3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HSPB3: view image

Paralogs for HSPB3 Gene

(5) SIMAP similar genes for HSPB3 Gene using alignment to 2 proteins:

  • HSPB3_HUMAN
  • Q6ICS9_HUMAN
genes like me logo Genes that share paralogs with HSPB3: view

Variants for HSPB3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HSPB3 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
648201 Uncertain Significance: Distal hereditary motor neuronopathy type 2C 54,455,886(+) G/GC FRAMESHIFT_VARIANT
712306 Likely Benign: not provided 54,456,059(+) C/T SYNONYMOUS_VARIANT
721798 Likely Benign: not provided 54,455,933(+) C/A SYNONYMOUS_VARIANT
753622 Likely Benign: not provided 54,456,134(+) C/T SYNONYMOUS_VARIANT
811167 Uncertain Significance: Distal hereditary motor neuronopathy type 2C 54,456,105(+) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for HSPB3 Gene

Structural Variations from Database of Genomic Variants (DGV) for HSPB3 Gene

Variant ID Type Subtype PubMed ID
dgv1606e212 CNV loss 25503493
dgv5668n100 CNV gain 25217958
dgv9786n54 CNV gain 21841781

Variation tolerance for HSPB3 Gene

Residual Variation Intolerance Score: 72.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.03; 21.04% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HSPB3 Gene

Human Gene Mutation Database (HGMD)
HSPB3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HSPB3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HSPB3 Gene

Disorders for HSPB3 Gene

MalaCards: The human disease database

(9) MalaCards diseases for HSPB3 Gene - From: UniProtKB/Swiss-Prot, OMIM, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search HSPB3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HSPB3_HUMAN
  • Neuronopathy, distal hereditary motor, 2C (HMN2C) [MIM:613376]: A neuromuscular disorder. Distal hereditary motor neuronopathies constitute a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. {ECO:0000269 PubMed:20142617}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for HSPB3

genes like me logo Genes that share disorders with HSPB3: view

No data available for Genatlas for HSPB3 Gene

Publications for HSPB3 Gene

  1. HspB3, the most deviating of the six known human small heat shock proteins. (PMID: 9858786) Boelens WC … De Jong WW (Biochimica et biophysica acta 1998) 2 3 4 23 54
  2. Isolation and characterization of a human heart cDNA encoding a new member of the small heat shock protein family--HSPL27. (PMID: 8972725) Lam WY … Waye MM (Biochimica et biophysica acta 1996) 2 3 4 54
  3. Mutant small heat shock protein B3 causes motor neuropathy: utility of a candidate gene approach. (PMID: 20142617) Kolb SJ … Prior TW (Neurology 2010) 3 4 54
  4. HSPB7 is a SC35 speckle resident small heat shock protein. (PMID: 19464326) Vos MJ … Kampinga HH (Biochimica et biophysica acta 2009) 3 4 54
  5. Small heat shock protein B3 (HSPB3) mutation in an axonal Charcot-Marie-Tooth disease family. (PMID: 29341343) Nam DE … Chung KW (Journal of the peripheral nervous system : JPNS 2018) 3 54

Products for HSPB3 Gene

Sources for HSPB3 Gene