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HSPB3 Gene

protein-coding   GIFtS: 50
GCID: GC05P053787

Heat Shock 27kDa Protein 3

(Previous name: heat shock 27kD protein 3)
  See HSPB3-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Heat Shock 27kDa Protein 31 2     HMN2C2 5
HSPL272 3 5     Heat Shock 27kD Protein 31
Heat Shock 17 KDa Protein2 3     Heat Shock Protein Beta-32
Protein 32 3     HSP273
HSP 172 3     HspB33
DHMN2C2 5     

External Ids:    HGNC: 52481   Entrez Gene: 89882   Ensembl: ENSG000001692717   OMIM: 6046245   UniProtKB: Q129883   

Export aliases for HSPB3 gene to outside databases

Previous GC identifers: GC05P053915 GC05P055181 GC05P053721 GC05P053767 GC05P050725


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 27kDa protein 3) is a protein-coding gene. Diseases associated with HSPB3 include distal hereditary motor neuropathy, and distal hereditary motor neuronopathy, type iic. An important paralog of this gene is HSPB1.

UniProtKB/Swiss-Prot: HSPB3_HUMAN, Q12988
Function: Inhibitor of actin polymerization




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000005.9  NC_018916.2  NT_034772.7  
Regulatory elements:
   Regulatory transcription factor binding sites in the HSPB3 gene promoter:
         Tal-1   MyoD   CUTL1   POU6F1 (c2)   Tal-1beta   NF-E2 p45   Meis-1b   E47   NF-E2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHSPB3 promoter sequence
   Search Chromatin IP Primers for HSPB3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HSPB3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q11.2   Ensembl cytogenetic band:  5q11.2   HGNC cytogenetic band: 5q11.2

HSPB3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HSPB3 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P053787:  view genomic region     (about GC identifiers)

Start:
53,751,431 bp from pter      End:
53,752,214 bp from pter
Size:
784 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: HSPB3_HUMAN, Q12988 (See protein sequence)
Recommended Name: Heat shock protein beta-3  
Size: 150 amino acids; 16966 Da

Explore the universe of human proteins at neXtProt for HSPB3: NX_Q12988

Explore proteomics data for HSPB3 at MOPED


See HSPB3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_006299.1  
ENSEMBL proteins: 
 ENSP00000303394  

HSPB3 Human Recombinant Protein Products:

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OriGene Protein Over-expression Lysate for HSPB3
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Novus Biologicals HSPB3 Proteins
Novus Biologicals HSPB3 Lysate
Browse Sino Biological Recombinant Proteins
Browse Sino Biological Cell Lysates
ProSpec Recombinant Protein for HSPB3
Browse Proteins at Cloud-Clone Corp.

 
Search eBioscience for Proteins for HSPB3 

HSPB3 Antibody Products:

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Abcam antibodies for HSPB3
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Search ThermoFisher Antibodies for HSPB3
Search LSBio for Antibodies for HSPB3

HSPB3 Assay Products:

Browse Kits and Assays available from EMD Millipore
OriGene Custom Assay Services for HSPB3
Browse R&D Systems for biochemical assays
GenScript Custom Assay Services for HSPB3
Browse Enzo Life Sciences for kits & assays
Browse ELISAs at Cloud-Clone Corp.
Browse CLIAs at Cloud-Clone Corp.
Search eBioscience for ELISAs for HSPB3 


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
HSPB: Heat shock proteins / HSPB

3 InterPro protein domains:
 IPR002068 a-crystallin/Hsp20_dom
 IPR008978 HSP20-like_chaperone
 IPR001436 Alpha-crystallin/HSP

Graphical View of Domain Structure for InterPro Entry Q12988

ProtoNet protein and cluster: Q12988

1 Blocks protein domain: IPB002068 Heat shock protein Hsp20

UniProtKB/Swiss-Prot: HSPB3_HUMAN, Q12988
Similarity: Belongs to the small heat shock protein (HSP20) family


Find genes that share domains with HSPB3           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: HSPB3_HUMAN, Q12988
Function: Inhibitor of actin polymerization

     Genatlas biochemistry entry for HSPB3:
heat shock protein 3

Phenotypes:
     1 GenomeRNAi human phenotype for HSPB3:
 Increased cell number in G2M,  

     1 MGI phenotypic allele for Hspb3 (no phenotypes)

Find genes that share phenotypes with HSPB3           About GenesLikeMe

Animal Models:
     MGI mouse knock-out Hspb3tm1(KOMP)Vlcg for HSPB3

   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HSPB3
   inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for HSPB3

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HSPB3
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HSPB3

miRNA
Products:
    
miRTarBase miRNAs that target HSPB3:
hsa-mir-335-5p (MIRT017068)

Block miRNA regulation of human, mouse, rat HSPB3 using miScript Target Protectors
1 qRT-PCR Assays for microRNA that regulate HSPB3:
hsa-miR-548c-3p
Browse SwitchGear 3'UTR luciferase reporter plasmids
Inhib. RNA
Products:
    
OriGene RNAi products in human, mouse, rat for HSPB3
Predesigned siRNA for gene silencing in human, mouse, rat HSPB3

Gene Editing
Products:
DNA2.0 Custom Protein Engineering Service for HSPB3

Clone
Products:
     
OriGene clones in human, mouse for HSPB3 (see all 6)
OriGene ORF clones in mouse, rat for HSPB3
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: HSPB3 (NM_006308)
Browse Sino Biological Human cDNA Clones
DNA2.0 Custom Codon Optimized Gene Synthesis Service for HSPB3
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HSPB3

Cell Line
Products:
     
GenScript Custom overexpressing Cell Line Services for HSPB3
Browse ESI BIO Cell Lines and PureStem Progenitors for HSPB3 
In Situ Assay
Products:
   

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HSPB3


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
HSPB3_HUMAN, Q12988: Cytoplasm. Nucleus. Note=Translocates to nuclear foci during heat shock
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
nucleus5
cytosol3
mitochondrion1

Gene Ontology (GO): 2 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005634nucleus IDA19464326
GO:0005737cytoplasm IDA19464326

Find genes that share ontologies with HSPB3           About GenesLikeMe


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Pathway & Disease-focused RT2 Profiler PCR Arrays including HSPB3: 
          Cellular Stress Responses in human mouse rat
          Heat Shock Proteins & Chaperones in human mouse rat

Interactions:

    GeneGlobe Interaction Network for HSPB3

STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

Selected Interacting proteins for HSPB3 (Q129882, 3 ENSP000003033944) via UniProtKB, MINT, STRING, and/or I2D (see all 29)
InteractantInteraction Details
GeneCardExternal ID(s)
NSMFQ6X4W12, 3, ENSP000003605304MINT-64103 I2D: score=4 STRING: ENSP00000360530
ANP32AP396872, 3MINT-64099 I2D: score=5 
BBOX1O759362, 3MINT-64098 I2D: score=5 
MED31Q9Y3C72, 3MINT-64112 I2D: score=5 
MED8Q96G252, 3MINT-64108 I2D: score=5 
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Gene Ontology (GO): 2 biological process terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006986response to unfolded protein TAS8972725
GO:0008219cell death IEA--

Find genes that share ontologies with HSPB3           About GenesLikeMe



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for HSPB3



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for HSPB3 gene: 
NM_006308.2  

Unigene Cluster for HSPB3:

Heat shock 27kDa protein 3
Hs.41707  [show with all ESTs]
Unigene Representative Sequence: NM_006308
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000302005(uc003jph.2)
miRNA
Products:
     
Block miRNA regulation of human, mouse, rat HSPB3 using miScript Target Protectors
1 qRT-PCR Assays for microRNA that regulate HSPB3:
hsa-miR-548c-3p
Browse SwitchGear 3'UTR luciferase reporter plasmids
Inhib. RNA
Products:
     
OriGene RNAi products in human, mouse, rat for HSPB3
Predesigned siRNA for gene silencing in human, mouse, rat HSPB3
Clone
Products:
     
OriGene clones in human, mouse for HSPB3 (see all 6)
OriGene ORF clones in mouse, rat for HSPB3
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: HSPB3 (NM_006308)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for HSPB3
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HSPB3
Primer
Products:
    
OriGene qSTAR qPCR primer pairs in human, mouse for HSPB3
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HSPB3
  QuantiTect SYBR Green Assays in human, mouse, rat HSPB3
  QuantiFast Probe-based Assays in human, mouse, rat HSPB3

Additional mRNA sequence: 

AK314215.1 BC126272.1 BC132869.1 CR450314.1 U15590.1 Y17782.1 

2 DOTS entries:

DT.314824  DT.120848739 

Selected AceView cDNA sequences (see all 37):

CR450314 AA136048 AI204315 BM719542 AI275037 BX106905 AI224915 AA426507 
AA476830 BP347482 Y17782 BM930611 W21483 NM_006308 W21042 AA126678 
AA429090 U15590 N74099 AI333690 BF002760 AI193915 N88299 AA649552 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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HSPB3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
HSPB3 Expression
About this image


HSPB3 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 6) fully expand
 
 Bone (Muscoskeletal System)    fully expand to see all 2 entries
         HyStem+TGFbeta3+GDF5-induced MEL2 cells
 
 Neurons
         Mature Horizontal Cells Inner Nuclear Layer
 
 Cartilage (Muscoskeletal System)
         HyStem+TGFbeta3+GDF5-induced MEL2 cells
 
 Eye (Sensory Organs)
         Mature Horizontal Cells Inner Nuclear Layer
 
 Heart (Cardiovascular System)
HSPB3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

HSPB3 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.41707
    Pathway & Disease-focused RT2 Profiler PCR Arrays including HSPB3: 
          Cellular Stress Responses in human mouse rat
          Heat Shock Proteins & Chaperones in human mouse rat

Primer
Products:
OriGene qSTAR qPCR primer pairs in human, mouse for HSPB3
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HSPB3
QuantiTect SYBR Green Assays in human, mouse, rat HSPB3
QuantiFast Probe-based Assays in human, mouse, rat HSPB3
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HSPB3

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals.

Orthologs for HSPB3 gene from Selected species (see all 12)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Hspb31 , 5 heat shock protein 31, 5 84.89(n)1
88(a)1
  13 (64.01 cM)5
565341  NM_019960.21  NP_064344.11 
 1136628965 
chicken
(Gallus gallus)
Aves HSPB31 heat shock 27kDa protein 3 67.12(n)
68.03(a)
  431593  XM_001231557.2  XP_001231558.1 
lizard
(Anolis carolinensis)
Reptilia HSPB36
heat shock 27kDa protein 3
62(a)
1 ↔ 1
2(2909694-2910128)
tropical clawed frog
(Xenopus tropicalis)
Amphibia hspb31 heat shock 27kDa protein 3 61.43(n)
59.29(a)
  100135387  XM_002941028.2  XP_002941074.1 
zebrafish
(Danio rerio)
Actinopterygii hspb31 heat shock protein, alpha-crystallin-related, b3 58.58(n)
56.62(a)
  568180  NM_001099452.1  NP_001092922.1 
fruit fly
(Drosophila melanogaster)
Insecta Hsp67Ba6
Hsp236
(see all 11)
Heat shock protein 23
(see all 11)
7(a)
19(a)
(see all 11)
many ↔ many
many ↔ many
(see all 11)
3L(9370902-9372634)
3L(9374982-9375865)
worm
(Caenorhabditis elegans)
Secernentea hsp-436
hsp-12.26
(see all 17)
Protein HSP-12.2 (hsp-12.2) mRNA, complete cds
(see all 17)
7(a)
27(a)
(see all 17)
many ↔ many
many ↔ many
(see all 17)
X(6233149-6235541) WBGene00002024
III(8138090-8139631) WBGene00002011


ENSEMBL Gene Tree for HSPB3 (if available)
TreeFam Gene Tree for HSPB3 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for HSPB3 gene
HSPB12  CRYAA2  CRYAB2  HSPB22  HSPB82  HSPB2-C11orf522  HSPB62  
5 SIMAP similar genes for HSPB3 using alignment to 2 protein entries:     HSPB3_HUMAN (see all proteins):
CRYAA    HSPB1    CRYAB    HSPB2    HSPB6

Find genes that share paralogs with HSPB3           About GenesLikeMe



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for HSPB3 (see all 106)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 5 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
VAR_0637734
Neuronopathy, distal hereditary motor, 2C (HMN2C)4--see VAR_0637732 R S mis40--------
rs1393820181,2
C,Fpathogenic153688409(+) TTGAGG/TCACCT 2 R S mis12Minor allele frequency- T:0.00NA EU 5859
rs1467108881,2
C--53686249(+) TGGGCA/GCAGTG 1 -- us2k10--------
rs125194101,2
C,H--53686274(+) TCCCAA/GTGCTT 1 -- us2k13Minor allele frequency- G:0.10CSA NA EA 242
rs42763661,2
C,F,A,H--53686391(+) GATGGA/CAGACG 1 -- us2k19Minor allele frequency- C:0.50NS EA NA WA 520
rs45557311,2
C,F,A,H--53686394(+) GGCAGG/ACGCCT 1 -- us2k15Minor allele frequency- A:0.37NA WA 128
rs45027731,2
C,F,A,H--53686439(+) AATCAC/TTTGAA 1 -- us2k1 tfbs34Minor allele frequency- T:0.50NA CSA 8
rs1848425321,2
--53686467(+) GCAGTA/GAGCCA 1 -- us2k10--------
rs788872871,2
F--53686530(+) AAAAAT/AAAATA 1 -- us2k11Minor allele frequency- A:0.11NA 120
rs1996344001,2
--53686530(+) AAAAA-/TAAATA 1 -- us2k10--------

HapMap Linkage Disequilibrium report for HSPB3 (53751431 - 53752214 bp)

Structural Variations
     Database of Genomic Variants (DGV) 3 variations for HSPB3:    About this table    
Variant IDTypeSubtypePubMed ID
nsv880713CNV Gain21882294
dgv6067n71CNV Gain21882294
nsv881404CNV Gain21882294

Human Gene Mutation Database (HGMD): HSPB3
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing HSPB3
DNA2.0 Custom Variant and Variant Library Synthesis for HSPB3

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 604624   
OMIM disorders: 613376  
UniProtKB/Swiss-Prot: HSPB3_HUMAN, Q12988
  • 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. Note=The disease is caused by mutations affecting the gene represented in
    this entry

  • 3 diseases for HSPB3:    
    About MalaCards
    distal hereditary motor neuropathy    distal hereditary motor neuronopathy, type iic    neuronopathy, distal hereditary motor, type iid


    Find genes that share disorders with HSPB3           About GenesLikeMe


    Export disorders for HSPB3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for HSPB3 gene, integrated from 10 sources (see all 11):
    (articles sorted by number of sources associating them with HSPB3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. HspB3, the most deviating of the six known human small heat shock proteins. (PubMed id 9858786)1, 2, 3, 9 Boelens W.C.... de Jong W.W. (Biochim. Biophys. Acta 1998)
    2. Isolation and characterization of a human heart cDNA encoding a new member of the small heat shock protein family -- HSPL27. (PubMed id 8972725)1, 2, 3 Lam W.Y....Waye M.M.Y. (Biochim. Biophys. Acta 1996)
    3. Mutant small heat shock protein B3 causes motor neuropathy: utility of a candidate gene approach. (PubMed id 20142617)1, 2 Kolb S.J....Prior T.W. (Neurology 2010)
    4. HSPB7 is a SC35 speckle resident small heat shock protein. (PubMed id 19464326)1, 2 Vos M.J.... Kampinga H.H. (Biochim. Biophys. Acta 2009)
    5. Structural aspects and chaperone activity of human HspB3: role of the &quot;C-terminal extension&quot;. (PubMed id 22610661)1 Asthana A....Rao C.h.M. (Cell Biochem. Biophys. 2012)
    6. A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)1 Stelzl U.... Wanker E.E. (Cell 2005)
    7. Interactions of HSP22 (HSPB8) with HSP20, alphaB-crystallin, and HSPB3. (PubMed id 16225851)1 Fontaine J.M....Welsh M.J. (Biochem. Biophys. Res. Commun. 2005)
    8. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    9. Muscle develops a specific form of small heat shock protein complex composed of MKBP/HSPB2 and HSPB3 during myogenic differentiation. (PubMed id 10625651)1 Sugiyama Y....Ohno S. (J. Biol. Chem. 2000)
    10. The human genome encodes 10 alpha-crystallin-related small heat shock proteins: HspB1-10. (PubMed id 12820654)9 KappAc G....de Jong W.W. (amp 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 8988 HGNC: 5248 AceView: HSPB3 Ensembl:ENSG00000169271 euGenes: HUgn8988
    ECgene: HSPB3 H-InvDB: HSPB3

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for HSPB3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for HSPB3 gene:
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    GeneCards and IP:
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