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HSPB1 Gene

protein-coding   GIFtS: 72

GC07P075769
heat shock 27kDa protein 1
(Previous name: heat shock 27kD protein 1 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
CMT2F 2, 5
DKFZp586P1322 2
HMN2B 2, 5
HS.76067 2
HSP27 1, 2, 3, 5
HSP28 1, 2, 3
Hsp25 1, 2
HspB1 3
OTTHUMP00000024846 2
SRP27 2, 3
Descriptions
28 kDa heat shock protein 3
Estrogen-regulated 24 kDa protein 2, 3
HSP 27 3
Heat shock 27 kDa protein 3
Stress-responsive protein 27 2, 3
heat shock 27kD protein 1 1, 2
heat shock 27kDa protein 1 2
heat shock protein beta-1 2
External Ids
HGNC: 52461
Entrez Gene: 33152
UniProtKB: P047923
Ensembl: ENSG000001062117
Search outside databases for aliases for HSPB1 gene

Previous GC identifers: GC07P074467 GC07P075530 GC07P075544 GC07P075576

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for HSPB1:
The protein encoded by this gene is induced by environmental stress and developmental changes. The
encoded protein is involved in stress resistance and actin organization and translocates from the
cytoplasm to the nucleus upon stress induction. Defects in this gene are a cause of
Charcot-Marie-Tooth disease type 2F (CMT2F) and distal hereditary motor neuropathy (dHMN).
[provided by RefSeq]

UniProtKB/Swiss-Prot: HSPB1_HUMAN, P04792
Function: Involved in stress resistance and actin organization

Gene Wiki entry for HSPB1 (Hsp27)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the HSPB1 gene  

Entrez Gene cytogenetic band: 7q11.23   Ensembl cytogenetic band:  7q11.23   HGNC cytogenetic band: 7q

HSPB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P075769:     (about GC identifiers)

Start:
75,769,859 bp from pter
End:
75,771,548 bp from pter
Size:
1,690 bases
Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 75,264,987-75,266,676     
RefSeq DNA sequence:
NC_000007.12  NT_007933.14  NT_079595.2  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: HSPB1_HUMAN, P04792 (See protein sequence)
Recommended Name: Heat shock protein beta-1  
Size: 205 amino acids; 22783 Da
Subunit: Interacts with TGFB1I1 (By similarity). Associates with alpha- and beta-tubulin,
microtubules and CRYAB. Interacts with HSPB8 and HSPBAP1
Subcellular location: Cytoplasm. Nucleus. Spindle. Note=Cytoplasmic in interphase cells.
Colocalizes with mitotic spindles in mitotic cells. Translocates to the nucleus during heat shock
Sequence caution: Sequence=AAA62175.1; Type=Frameshift; Positions=194; Sequence=AAB20722.1;
Type=Frameshift; Positions=194; Sequence=CAA34498.1; Type=Frameshift; Positions=194;
Secondary accessions: Q6FI47 Q96C20 Q96EI7 Q9UC31 Q9UC34 Q9UC35 Q9UC36

Post-translational modifications:

  • Phosphorylated in MCF-7 cells on exposure to protein kinase C activators and heat shock1
  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_001531.1  

    ENSEMBL proteins: 
    ENSP00000248553 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Millipore Purified and/or Recombinant HSPB1 Protein
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    R&D Systems Recombinant & Natural Proteins for HSPB1 (HSP27)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (Hsp27)
    Human Recombinant Proteins from Abnova (HSPB1)
                  OriGene Purified Recombinant Human Protein: HSPB1 

    5 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634 nucleus IEA--
    GO:0005737 cytoplasm TAS16130169
    GO:0005819 spindle IEA--
    GO:0005856 cytoskeleton TAS16130169
    GO:0009986 cell surface IDA12493773
    About this table

    Antibodies for HSPB1: 
    Invitrogen Antibodies for HSPB1
    Millipore Mono- and Polyclonal Antibodies for the study of HSPB1
    Sigma-Aldrich Antibody Arrays and Antibodies for HSPB1
    R&D Systems Antibodies for HSPB1 (HSP27)
    Cell Signaling Technology (CST) Antibodies for HSPB1  (HSP27)
    Antibodies from Abcam (Hsp27), each with their AbpromiseSM
    Browse Abnova for Monoclonal and Polyclonal Antibodies
    Novus Biologicals Antibodies for HSPB1

    Assays for HSPB1: 
    Invitrogen Assays for HSPB1
    Millipore Kits and Assays for the Analysis of HSPB1
    R&D Systems ELISAs for HSPB1 (HSP27)         (see all)
    Cell Signaling Technology (CST) Sandwich ELISA Kits for HSPB1 (HSP27)
    Browse biochemical assays available from Enzo Life Sciences

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    2 InterPro domains/families:
     IPR001436 Alpha-crystallin/HSP
     IPR002068 Hsp20


       GeneDecks  HSPB1 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry P04792

    ProtoNet protein and cluster: P04792

    1 Blocks protein family: IPB002068 Heat shock protein Hsp20

    UniProtKB/Swiss-Prot: HSPB1_HUMAN, P04792
    Similarity: Belongs to the small heat shock protein (HSP20) family

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (HSPB1)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (HSPB1)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_001540

                  Applied Biosystems Silencer® siRNAs for HSPB1

                  Sigma-Aldrich siRNA for HSPB1  
                         Sigma-Aldrich shRNA Panels and shRNA for HSPB1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for HSPB1
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_001540
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_001540
                                     untagged cDNA clone in CMV expression vector: NM_001540 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_001540

    UniProtKB/Swiss-Prot: HSPB1_HUMAN, P04792
    Function: Involved in stress resistance and actin organization
    Induction: Expressed in response to environmental stresses such as heat shock, or estrogen
    stimulation in MCF-7 cells

    Genatlas biochemistry entry for HSPB1:
    heat shock protein 1,estrogen receptor related

    1 MGI mutant phenotype (inferred from 1 allele(MGI details for Hspb1):

    normal

    1 Gene Ontology (GO) molecular function term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0042802 identical protein binding IPI11003656
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    2 Invitrogen iPath™ Online BioAtlas - Pathways for HSPB1 (Maps provided by GeneGo):
     A2B receptor: action via G-protein alpha s (map 1)
     P53 signaling pathway

       GeneDecks  HSPB1 for the pathways selected above  
    About GeneDecksing

    2 Millipore Pathways for HSPB1
     Apoptosis and survival FAS signaling cascades
     Transcription P53 signaling pathway

       GeneDecks  HSPB1 for the pathways selected above  
    About GeneDecksing

    5/6 Sigma-Aldrich "Your Favorite Gene" Pathways for  HSPB1  (Your Favorite Gene powered by Ingenuity) (see all 6
     p38 MAPK Signaling
     Death Receptor Signaling
     IL-6 Signaling
     Cardiac Hypertrophy Signaling
     ERK/MAPK Signaling

       GeneDecks  HSPB1 for the pathways selected above  
    About GeneDecksing

    1 Cell Signaling Technology (CST) Pathway for HSPB1: 
     SAPK/JNK Signaling Cascades

       GeneDecks  HSPB1 for the pathways selected above  
    About GeneDecksing

    2 Kegg Pathways  (Kegg details for HSPB1):
     hsa04010 MAPK signaling pathway
     hsa04370 VEGF signaling pathway

       GeneDecks  HSPB1 for the pathways selected above  
    About GeneDecksing
     Gene Network CentralTM Interacting Genes and Proteins Network for  HSPB1 


    5/50 Interacting proteins for HSPB1 (ENSP000002485533 P047921, 2) via UniProtKB, MINT, and/or STRING (see all 50 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HSPB8Q9UJY11STRING (score=.961) EBI-352682, EBI-739074
    CRYABP025112STRING (score=.871) MINT-17168
    TP53P046372STRING (score=.726) MINT-4302652
    DAXXQ9UER71EBI-352682, EBI-77321
    HSPB1P047921EBI-352682, EBI-352682
    About this table

    5 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006446 regulation of translational initiation TAS10859165
    GO:0006916 anti-apoptosis TAS16130169
    GO:0006928 cell motion TAS16130169
    GO:0006986 response to unfolded protein TAS10859165
    GO:0009408 response to heat IEA--
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for HSPB1
    10/52 Novoseek chemical compound relationships for HSPB1 gene (see all 52 )
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    17-(allylamino)-17-demethoxygeldanamycin 53.82 6 19383903 (3), 17173546 (2)
    sp 600125 46.31 8 12943527 (3), 15062846 (2), 18407296 (1), 16876988 (1) (see all 5)
    pd 98,059 43.89 16 11909638 (3), 11483406 (2), 10572244 (2), 11034403 (2) (see all 10)
    okadaic acid 38.56 12 8690728 (2), 8380591 (1), 18241680 (1), 7510704 (1) (see all 9)
    12-o-tetradecanoylphorbol 13-acetate 35.04 24 10572244 (3), 17673262 (3), 10839933 (2), 9332492 (1) (see all 8)
    dbc-amp 32.70 9 11701442 (2), 7541446 (1), 12694807 (1), 15848222 (1) (see all 7)
    cdcl2 32.53 7 11525238 (2), 11497330 (2), 10379001 (1)
    manganese superoxide 30.37 4 12385642 (2), 17593366 (1), 17884789 (1)
    progesterone 30.08 28 8142264 (4), 1851492 (2), 1562530 (2), 9219918 (2) (see all 16)
    ecdysone 29.33 2 1846802 (1), 12175493 (1)
    About this table


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (HSPB1)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (HSPB1)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_001540

                  Sigma-Aldrich siRNA for HSPB1  
                         Sigma-Aldrich shRNA Panels and shRNA for HSPB1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_001540  

    REFSEQ mRNAs for HSPB1 gene: 

    NM_001540.3   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_001540  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_001540
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_001540
                                     untagged cDNA clone in CMV expression vector: NM_001540 

    Additional cDNA sequence: 

    AB020027.1 AF086135.1 AK296890.1 AK311446.1 AK311894.1 AL050380.1 BC000510.2 BC012292.1 
    BC012768.2 BC014920.1 BC073768.1 BT019888.1 CR407614.1 CR536489.1 CR591310.1 CR602417.1 
    CR603713.1 CR605148.1 CR606208.1 CR607252.1 CR608836.1 CR609210.1 CR611496.1 S74571.1 
    U90906.1 X16477.1 X54079.1 

    24/41 DOTS entries (see all 41 ):

    DT.91648006  DT.97869739  DT.101986742  DT.95186317  DT.100738944  DT.100886895  DT.100886894  DT.95365380 
    DT.100886884  DT.80100707  DT.91870325  DT.100886876  DT.95365364  DT.100886881  DT.100886879  DT.86996824 
    DT.100886873  DT.100886891  DT.121077547  DT.87009731  DT.95365341  DT.100660034  DT.100886874  DT.100886882 

    24/2126 AceView cDNA sequences (see all 2126 ):

    BI819052 BM827986 BQ651753 BM887777 BM919872 BM912150 CR609210 BU557899 
    CD675553 BU728236 BE858184 AI149133 BM909888 BU189491 BM826205 BG752568 
    BM833965 BM672677 AU134929 AA302272 BM787855 AL541694 BM747288 CD674863 

    highest scoring ESTs for HSPB1:

    AA022819 AA033557 AA040623 AA042877 AA044229 AA044762 AA045029 AA045039 AA045787 AA052937 

    Unigene Cluster for HSPB1:

    Heat shock 27kDa protein 1
    Hs.520973  [show with all ESTs]
    Unigene Representative Sequence: BM454532


    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for HSPB1

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c
    SP1:        -     -                           
    SP2:                                          
    SP3:                                          

    About this scheme

    ECgene alternative splicing isoforms for HSPB1

    1 Ensembl transcript including schematic representation:
    ENST00000248553  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    HSPB1 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for HSPB1

    1 / 2 / 3

    4 probe-sets matching HSPB1 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    36785_at2, 3 U95-A 3 1.00 0.51 0.99 0.92 Z23090 0.60 0.75 0.68 1

    63673_at2, 3 U95-C 2 0.56 0.61 1.00 1.08 AI635057 0.60 1.00 0.82 1

    201841_s_at2, 3 U133-A 3 1.00 0.58 -- -- NM_001540 0.60 1.00 0.82 1

    201841_s_at2 U133Plus2 3 1.00 0.58 -- -- -- -- -- -- --
    About this table
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: CCCAAGCTAG

    SOURCE GeneReport for Unigene cluster: Hs.520973

    Expression variation in blood from EXPOLDB for HSPB1

    UniProtKB/Swiss-Prot: HSPB1_HUMAN, P04792
    Tissue specificity: Detected in all tissues tested: skeletal muscle, heart, aorta, large intestine,
    small intestine, stomach, esophagus, bladder, adrenal gland, thyroid, pancreas, testis, adipose
    tissue, kidney, liver, spleen, cerebral cortex, blood serum and cerebrospinal fluid. Highest
    levels are found in the heart and in tissues composed of striated and smooth muscle

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for HSPB1 gene from 5/10 species (see all 10 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    HSPB11   -- heat shock 27kDa protein 1 87.75(n)
    88.24(a)
    403979  NM_001003295.1  NP_001003295.1 
    chimpanzee
    (Pan troglodytes)
    HSPB11   -- heat shock 27kDa protein 1 98.59(n)
    98.41(a)
    463488  XM_519162.2  XP_519162.2 
    cow
    (Bos taurus)
    HSPB11   -- heat shock 27kDa protein 1 88.1(n)
    89.8(a)
    516099  NM_001025569.1  NP_001020740.1 
    rat
    (Rattus norvegicus)
    Hspb11   -- heat shock protein 1 81.57(n)
    83.42(a)
    24471  NM_031970.1  NP_114176.1 
    mouse
    (Mus musculus)
    Hspb11, 5 5 (76.00 cM)5
    heat shock protein 11, 5 83.58(n)1
    84.88(a)1
    155071  NM_013560.11  NP_038588.11 
     AA0138865  AF0473775  (see all 21)
    About this table        Species with no ortholog for HSPB1

    ENSEMBL Gene Tree for HSPB1
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for HSPB1 gene
    CRYAA2  CRYAB2  HSPB62  

    Pseudogenes
    1 related pseudogene


    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/68 NCBI SNPs in HSPB1 are shown (see all 68 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 39)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 7 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs28683711,2
    A,C,F,H75768695(-) tctttG/Cttcca 1 -- ng518Minor allele frequency- C:0.34EU EA WA 836
    --
    rs20098361,2
    A,C,F,H75769096(-) TACAAA/GTACAA 1 -- ng51 tfbs34Minor allele frequency- G:0.40EU EA WA 368
    rs69633101,2
    C,F,H75769612(+) TCTGTC/TCTCCT 1 -- ng519Minor allele frequency- T:0.01EU EA WA NS 602
    rs20708041,2
    C,F,H75771648(+) CCATGT/GGGGTA 1 -- ng3110Minor allele frequency- G:0.20EA EU WA NS 1896
    rs29038131,2
    C,F,H75768725(-) gacttT/Cgaagc 1 -- ng518Minor allele frequency- C:0.07EU EA WA 840
    rs28683701,2
    F,H75768736(-) ttaggC/Tgtgtg 1 -- ng514Minor allele frequency- T:0.12EU EA WA 418
    rs102522961,2
    F,H75768610(+) gTTACC/TATCat 1 -- ng514Minor allele frequency- T:0.01EU EA WA 420
    rs29038141,2
    F,H75768658(-) ttagaT/Gtcttt 1 -- ng514Minor allele frequency- G:0.02EU EA WA 420
    --
    rs344847131,2
    F75771920(+) AGTTG-/TGAAGGG 1 -- ng315Minor allele frequency- TG:0.27NS 182
    rs344289391,2
    F75771702(+) AGACAG/CAGGTC 1 -- ng315Minor allele frequency- C:0.02NS 182
    About this table

    HapMap Linkage Disequilibrium images for HSPB1 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 602195   disorders: 608634  606595  

    UniProtKB/Swiss-Prot: HSPB1_HUMAN, P04792

  • Defects in HSPB1 are the cause of Charcot-Marie-Tooth disease type 2F (CMT2F)
    [MIM:606595]. CMT2F is a form of Charcot-Marie-Tooth disease, the most common inherited disorder
    of the peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups on
    the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating
    neuropathy or CMT1, and primary peripheral axonal neuropathy or CMT2. Neuropathies of the CMT2
    group are characterized by signs of axonal regeneration in the absence of obvious myelin
    alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle
    weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. CMT2F onset is
    between 15 and 25 years with muscle weakness and atrophy usually beginning in feet and legs
    (peroneal distribution). Upper limb involvement occurs later. CMT2F inheritance is autosomal
    dominant
  • Defects in HSPB1 are a cause of distal hereditary motor neuronopathy type 2B (HMN2B)
    [MIM:608634]. Distal hereditary motor neuronopathies constitute a heterogeneous group of
    neuromuscular disorders caused by selective impairment 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
  • 10/95 Novoseek disease relationships for HSPB1 gene (see all 95 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    shock 91.56 613 16840785 (4), 1730670 (4), 12423255 (4), 2037626 (4) (see all 99)
    alexanders disease 57.44 5 8256860 (2), 8393618 (2), 7541446 (1)
    charcot-marie-tooth disease 56.08 5 17881652 (2), 18587268 (1), 16215937 (1), 16155736 (1)
    tumors 45.47 212 9179613 (6), 12820652 (6), 16234246 (5), 8590455 (5) (see all 92)
    breast cancer 45.27 102 15833836 (5), 8402609 (4), 19080259 (4), 9307847 (3) (see all 46)
    ehrlich ascites tumor 37.04 4 1930221 (2), 8647651 (1), 9665826 (1)
    carcinoma squamous cell 36.67 35 11836604 (3), 9210326 (2), 14702179 (2), 16619543 (2) (see all 22)
    cancer 32.54 34 19214136 (3), 9815962 (2), 17106261 (2), 11156417 (2) (see all 21)
    metastasis 30.50 31 16696328 (2), 9568646 (2), 11836604 (2), 19166925 (1) (see all 16)
    breast carcinoma 30.17 13 1988702 (4), 14715258 (2), 9568111 (1), 7579511 (1) (see all 7)
    About this table

    GeneTests: HSPB1
    Charcot-Marie-Tooth Neuropathy Type 2

    Human Gene Mutation Database: HSPB1
    Genetic Association Database: HSPB1
    Human Genome Epidemiology Navigator: HSPB1 (2 documents)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
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    10/733 PubMed articles for HSPB1 gene (see all 733 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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    Entrez Gene: 3315 HGNC: 5246 AceView: HSPB1 Ensembl:ENSG00000106211 euGenes: HUgn3315
    ECgene: HSPB1 H-InvDB: HSPB1
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    ATLAS Chromosomes in Cancer entry for HSPB1 Genetics and Cytogenetics in Oncology and Haematology
    Inherited peripheral neuropathies mutation dbhttp://www.molgen.ua.ac.be/CMTMutations/
    GeneReviewshttp://www.genetests.org/query?gene=HSPB1
    NIEHS SNPshttp://egp.gs.washington.edu/data/hspb1/
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



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