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HSPB8 Gene

protein-coding   GIFtS: 60

GC12P116624
heat shock 22kDa protein 8
(Previous name: heat shock 27kDa protein 8 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Products    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases & Descriptions
heat shock 22kDa protein 81 2     Small stress protein-like protein HSP222 3
E2IG11 2 3 5     E2-induced gene 1 protein2 3
HSP221 2 3     HMN2A2 5
H111 2 5     CMT2L2 5
heat shock 27kDa protein 81 2     DHMN22 5
HspB81 3     HMN22
Alpha-crystallin C chain2 3     heat shock protein beta-82
Protein kinase H112 3     CRYAC3

External Ids:    HGNC: 301711   Entrez Gene: 263532   Ensembl: ENSG000001521377   UniProtKB: Q9UJY13   

Export aliases for HSPB8 gene to outside databases

Previous GC identifers: GC12P118028 GC12P118079 GC12P119616


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

Entrez Gene summary for HSPB8:
The protein encoded by this gene belongs to the superfamily of small heat-shock proteins containing a conservative
alpha-crystallin domain at the C-terminal part of the molecule. The expression of this gene in induced by estrogen in
estrogen receptor-positive breast cancer cells, and this protein also functions as a chaperone in association with
Bag3, a stimulator of macroautophagy. Thus, this gene appears to be involved in regulation of cell proliferation,
apoptosis, and carcinogenesis, and mutations in this gene have been associated with different neuromuscular diseases,
including Charcot-Marie-Tooth disease. (provided by RefSeq)

UniProtKB/Swiss-Prot: HSPB8_HUMAN, Q9UJY1
Function: Displays temperature-dependent chaperone activity

Gene Wiki entry for HSPB8

(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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HSPB8 gene promoter:
         HNF-4alpha2   COUP-TF1   C/EBPbeta   ATF-2   c-Jun   CREB   deltaCREB   ATF   POU3F2   RREB-1   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for HSPB8

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 


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

Entrez Gene cytogenetic band: 12q24.23   Ensembl cytogenetic band:  12q24.23   HGNC cytogenetic band: 12q24.23

HSPB8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HSPB8 gene location

GeneLoc gene densities for chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P116624:  view genomic region     (about GC identifiers)

Start:
116,624,758 bp from pter
End:
116,640,724 bp from pter
Size:
15,967 bases
Orientation:
plus strand

1 alternative location:
Chr12+ 119,616,595-119,632,550     
RefSeq DNA sequence:
NC_000012.11  NT_009775.17  

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

UniProtKB/Swiss-Prot: HSPB8_HUMAN, Q9UJY1 (See protein sequence)
Recommended Name: Heat shock protein beta-8  
Size: 196 amino acids; 21604 Da
Subunit: Monomer. Interacts with HSPB1
Subcellular location: Cytoplasm. Nucleus. Note=Translocates to nuclear foci during heat shock
Caution: Was reported (PubMed:10833516) to have a protein kinase activity and to act as a Mn(2+)-dependent
serine-threonine-specific protein kinase
Secondary accessions: B2R6A6 Q6FIH3 Q9UKS3

Explore the universe of human proteins at neXtProt for HSPB8: NX_Q9UJY1 

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_055180.1  

    ENSEMBL proteins: 
    ENSP00000281938 


    Human Recombinant Proteins 
    Browse Purified and Recombinant Proteins at Millipore
    Sigma-Aldrich Proteins for HSPB8
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein: HSPB8
    OriGene Protein Over-expression Lysate: HSPB8
    GenScript Custom Purified and Recombinant Proteins Services for HSPB8 
    Novus Biologicals Proteins for HSPB8
    Novus Biologicals Lysates for HSPB8
    Browse Sino Biological Recombinant Proteins
    ProSpec Recombinant Protein for HSPB8

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622 intracellular IDA11256614
    GO:0005634 nucleus IDA19464326
    GO:0005737 cytoplasm IDA19464326
    About this table

    HSPB8 for ontologies           About GeneDecksing



    Antibodies for HSPB8: 
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for HSPB8
    R&D Systems Antibodies for HSPB8
    Cell Signaling Technology (CST) Antibodies for HSPB8  (HSPB8/HSP22)
    OriGene Antibodies: HSPB8
    GenScript Custom Superior Antibodies Services for HSPB8 
    Novus Biologicals Antibodies for HSPB8
    Epitomics antibodies for HSPB8

    Assays for HSPB8: 
    Browse Kits and Assays available from Millipore
    Browse ELISAs at Sigma-Aldrich
    OriGene Custom Immunoassay Development 
    Browse OriGene Fluorogenic Cell Assay Kits 
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for HSPB8 
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs and CLIAs at Uscn 


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

    HSPB8 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR008978 HSP20-like_chaperone
     IPR001436 Alpha-crystallin/HSP
     IPR002068 Hsp20

    Graphical View of Domain Structure for InterPro Entry Q9UJY1

    ProtoNet protein and cluster: Q9UJY1

    1 Blocks protein family: IPB002068 Heat shock protein Hsp20

    UniProtKB/Swiss-Prot: HSPB8_HUMAN, Q9UJY1
    Similarity: Belongs to the small heat shock protein (HSP20) family


    (According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
    About This Section

    UniProtKB/Swiss-Prot: HSPB8_HUMAN, Q9UJY1
    Function: Displays temperature-dependent chaperone activity
    Induction: By 17-beta-estradiol

    Inhib.
    RNA:
        
    Browse for Gene Knock-down Tools from Millipore
    Sigma-Aldrich Nano Scale siRNA for HSPB8
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for HSPB8
    Sigma-Aldrich shRNA Panels and shRNA for HSPB8
    OriGene 29mer shRNA kits in GFP-retroviral vector: HSPB8
    OriGene shRNA RFP: HSPB8
    OriGene basic RS shRNA: HSPB8
    OriGene siRNA: HSPB8
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of HSPB8 
    miRNA:Sigma-Aldrich microRNA Mimics for HSPB8
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of HSPB8 
    1 SABiosciences Assays for microRNA that regulate HSPB8:
    hsa-miR-450b-5p

    Gene
    Editing:
    Browse CompoZr Knockout ZFN at Sigma-Aldrich 

    Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    Browse iPSC Reprogramming Factors at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: HSPB8
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: HSPB8
    OriGene untagged cDNA clones in CMV expression vector: HSPB8
    OriGene 3'-UTR clone: HSPB8 
    Browse MicroRNA Expression Plasmids 
    GenScript cDNA clone with any tag delivered in your preferred vector: HSPB8 
    Sino Biological Human cDNA Clone for HSPB8

    Cell
    Lines:
      
    GenScript Custom overexpressing Cell Line Services for HSPB8 

    3 Gene Ontology (GO) molecular function terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004674 protein serine/threonine kinase activity NAS10833516
    GO:0005515 protein binding IPI16225851
    GO:0042802 identical protein binding IPI14594798
    About this table

    HSPB8 for ontologies           About GeneDecksing


    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
    About This Section


    HSPB8 for pathways           About GeneDecksing

    1 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathway for  HSPB8
        NRF2-mediated Oxidative Stress Response

        SABiosciences Pathway-Focused PCR Arrays including HSPB8: PAHS-076A PAHS-3401A 

        Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for HSPB8
        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HSPB8

    5/9 Interacting proteins for HSPB8 (ENSP000002819383 Q9UJY11, 2) via UniProtKB, MINT, and/or STRING (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HSPB1P047921STRING: ENSP00000248553 EBI-739074,EBI-352682
    HSPB2Q160821STRING: ENSP00000302476 EBI-739074,EBI-739395
    HSPB7Q9UBY91STRING: ENSP00000364866 EBI-739074,EBI-739361
    CRYABP025111EBI-739074,EBI-739060
    HSPB6O145581EBI-739074,EBI-739095
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150 biological_process ND--
    GO:0008219 cell death IEA--
    GO:0009408 response to heat IEA--
    About this table

    HSPB8 for ontologies           About GeneDecksing



    (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

    HSPB8 for compounds           About GeneDecksing

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

    Browse Tocris compounds for HSPB8
    1 Novoseek chemical compound relationship for HSPB8 gene
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glycogen 15.6 1 15543936 (1)
    About this table



    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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 Millipore,
    siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
    About This Section

    Inhib.
    RNA:
         
    Browse for Gene Knock-down Tools from Millipore
    Sigma-Aldrich Nano Scale siRNA for HSPB8
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for HSPB8
    Sigma-Aldrich shRNA Panels and shRNA for HSPB8
    OriGene 29mer shRNA kits in GFP-retroviral vector: HSPB8
    OriGene shRNA RFP: HSPB8
    OriGene basic RS shRNA: HSPB8
    OriGene siRNA: HSPB8
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of HSPB8 
    miRNA: Sigma-Aldrich microRNA Mimics for HSPB8
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of HSPB8 
    1 SABiosciences Assays for microRNA that regulate HSPB8:
    hsa-miR-450b-5p
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: HSPB8
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: HSPB8
    OriGene untagged cDNA clones in CMV expression vector: HSPB8
    OriGene 3'-UTR Clone: HSPB8 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript cDNA clone with any tag delivered in your preferred vector: HSPB8 
    Primers: OriGene genome-wide validated SYBR primer pairs: HSPB8
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for HSPB8: PPH11188A

    REFSEQ mRNAs for HSPB8 gene: 

    NM_014365.2  

    Additional cDNA sequence: 

    AF133207.1 AF191017.1 AF217987.1 AF250138.1 AK312501.1 AL136936.1 BC002673.2 BT006876.1 
    CR533453.1 CR590762.1 CR591785.1 CR594671.1 CR597922.1 CR599692.1 CR604459.1 CR607849.1 
    CR608992.1 CR611633.1 CR611944.1 CR612820.1 CR613252.1 CR614248.1 CR614666.1 CR616260.1 
    CR617456.1 CR621727.1 

    11 DOTS entries:

    DT.118507  DT.97805038  DT.100790665  DT.100791064  DT.95315897  DT.91771456  DT.95127280  DT.95315892 
    DT.121194272  DT.95315932  DT.40290479 

    24/347 AceView cDNA sequences (see all 347):

    CR597922 CR612820 CR533453 BM719111 CK823060 CR591785 BM704580 BI522646 
    BM726040 BM665238 AW025187 BM817930 CR614666 CR608992 CR614248 AL136936 
    BP374630 BX397219 F21721 BU631212 BX396468 AI356117 BP334031 AI167702 

    highest scoring ESTs for HSPB8:

    AA010110 AA147248 AA301673 AA364235 AA364454 AA369616 AA524362 AA526710 AA679011 AA705026 

    Unigene Cluster for HSPB8:

    Heat shock 22kDa protein 8
    Hs.400095  [show with all ESTs]
    Unigene Representative Sequence: NM_014365


    GeneLoc Exon Structure

    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000281938(uc001txb.2 uc001txc.2)

    (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 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Primers from OriGene and/or SABiosciences )
    About This Section

    HSPB8 expression in normal and diseased human tissues

    1  / 2  / 3

    6 probe-sets matching HSPB8 gene

    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    56474_at2, 3 U95-B 1 0.50 1.00 0.97 1.38 W23068 0.60 1.00 0.82 1
    70345_at2, 3 U95-E 1 0.38 1.00 0.77 0.63 AI740733 0.80 1.00 0.91 1
    221667_s_at2, 3 U133-A 1 0.82 1.00 -- -- AF133207 0.80 1.00 0.91 1
    233057_at2, 3 U133-B 1 0.36 1.00 -- -- BF109740 0.60 1.00 0.82 1
    221667_s_at2 U133Plus2 1 0.82 1.00 -- -- -- -- -- -- --
    233057_at2 U133Plus2 1 0.36 1.00 -- -- -- -- -- -- --
    About this table

    HSPB8 for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    HSPB8 gene expression
    HSPB8 gene electronic northern expression
    HSPB8 gene sage expression
    About these images

    CGAP SAGE TAG: CTTGGTTGTG

    SOURCE GeneReport for Unigene cluster: Hs.400095

    UniProtKB/Swiss-Prot: HSPB8_HUMAN, Q9UJY1
    Tissue specificity: Predominantly expressed in skeletal muscle and heart

    Primers: OriGene genome-wide validated SYBR primer pairs: HSPB8
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for HSPB8: PPH11188A
        SABiosciences Expression via Pathway-Focused PCR Arrays including HSPB8: PAHS-076A PAHS-3401A 


    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section

    Orthologs for HSPB8 gene from 5/9 species (see all 9)
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    HSPB81   -- heat shock 22kDa protein 8 90.31(n)
    93.88(a)
    403553  NM_001003029.1  NP_001003029.1 
    chimpanzee
    (Pan troglodytes)
    HSPB81   -- heat shock 22kDa protein 8 99.66(n)
    100(a)
    452295  XM_509417.2  XP_509417.1 
    cow
    (Bos taurus)
    HSPB81   -- heat shock 22kDa protein 8 90.48(n)
    95.92(a)
    539524  NM_001014955.1  NP_001014955.1 
    rat
    (Rattus norvegicus)
    Hspb81   -- heat shock protein 8 88.61(n)
    95.41(a)
    113906  NM_053612.2  NP_446064.1 
    mouse
    (Mus musculus)
    Hspb81 , 5 5 (56.41 cM)5
    heat shock protein 81, 5 87.24(n)1
    94.39(a)1
    808881  NM_030704.21  NP_109629.11 
     AA0000775  AF2501395  (see all 22)
    About this table        Species with no ortholog for HSPB8

    ENSEMBL Gene Tree for HSPB8 (if available)

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
    Paralogs for HSPB8 gene
    HSPB12  CRYAA2  CRYAB2  HSPB22  HSPB62  HSPB32  

    HSPB8 for paralogs           About GeneDecksing



    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
    About This Section

    10/204 NCBI SNPs in HSPB8 are shown (see all 204)
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 12 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ----------
    rs110381,2
    C,F,A,119632307(+) ATCTGA/GCCTAG 1 -- ut31 ese322Minor allele frequency- G:0.32MN NA NS EA 2032
    rs11330261,2
    C,F,A,119632347(+) AAGTCG/AGGATT 1 -- ut3120Minor allele frequency- A:0.14MN NS EA NA WA 1700
    rs19665441,2
    C,F,A,H119626122(+) tgtcaA/Gctcac 1 -- int16Minor allele frequency- G:0.43NA WA 14
    rs22781811,2
    H119617777(+) TTTAAT/CATAAA 1 -- int14Minor allele frequency- C:0.00NS EA 388
    rs22781821,2
    C,F,119624335(+) AGAACG/AACGTC 1 -- int119Minor allele frequency- A:0.14EA NS NA 3042
    rs27277261,2
    C,A,H,119616227(+) AAAAAA/TTTTTT 1 -- ng51 trp34Minor allele frequency- T:0.17NA WA 58
    rs37829191,2
    C,F119626148(+) CTGGGT/ATCAAG 1 -- int12Minor allele frequency- A:0.50NA 4
    rs46287421,2
    C,F,119631654(+) GTCACC/TTGTAC 2 T ref1 syn1 ese35Minor allele frequency- T:0.12NS EA WA 470
    rs47677911,2
    C,F,H119623258(+) ctcagC/Tctccc 1 -- int11Minor allele frequency- T:0.50NA 4
    rs58013191,2
    --119629416(+) aaaaA-/ACTCCC 1 -- int10--------
    About this table

    HapMap Linkage Disequilibrium images for HSPB8 (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for HSPB8: --

    QIAGEN SeqTarget long-range PCR primers for resequencing HSPB8 

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

    HSPB8 for disorders           About GeneDecksing

    OMIM: 608014   disorders: 158590  608673  

    UniProtKB/Swiss-Prot: HSPB8_HUMAN, Q9UJY1

  • Defects in HSPB8 are the cause of distal hereditary motor neuronopathy type 2A (HMN2A) [MIM:158590]; also
  • known as distal hereditary motor neuropathy type IIA or spinal Charcot-Marie-Tooth disease IIA. 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
  • Defects in HSPB8 are the cause of Charcot-Marie-Tooth disease type 2L (CMT2L) [MIM:608673]. CMT2L is an axonal
  • form of Charcot-Marie-Tooth disease. Axonal CMT neuropathies 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

    5 Novoseek disease relationships for HSPB8 gene

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    shock 67.6 41 17922839 (3), 14985082 (3), 15541337 (2), 18298377 (1) (see all 16)
    neuromuscular diseases 60.7 4 15879436 (1), 16949546 (1)
    cardiac hypertrophy 47.3 3 15541337 (1)
    alzheimers disease 26.1 1 16485107 (1)
    ischemia 0 1 16373598 (1)
    About this table

    GeneTests: HSPB8
    Charcot-Marie-Tooth Neuropathy Type 2

    Locus Specific Mutation Databases (LSDB): HSPB8
    Human Gene Mutation Database (HGMD): HSPB8
    Human Genome Epidemiology (HuGE) Navigator: HSPB8 (6 documents)

    Export disorders and mutations for HSPB8 gene to outside databases

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

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6UniProtKB/TrEMBL, and/or 7Novoseek)
    About This Section

    10/84 PubMed articles for HSPB8 gene, integrated from 7 sources (see all 84):
    (articles sorted by number of sources associating them with HSPB8)
    1. A novel human gene similar to the protein kinase (PK) coding domain of the large subunit of herpes simplex virus type 2 ribonucleotide reductase (ICP10) codes for a serine-threonine PK and is expressed in melanoma cells. (PubMed id 10833516)1, 2, 3, 7 Smith C.C.... Aurelian L. (2000)
    2. Effects of estrogen on global gene expression: identification of novel targets of estrogen action. (PubMed id 11085516)1, 2, 3 Charpentier A.H.... Aldaz C.M. (2000)
    3. Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy. (PubMed id 15122253)1, 2, 7 Irobi J.... Timmerman V. (2004)
    4. Characterization of two novel human small heat shock proteins: protein kinase-related HspB8 and testis-specific HspB9. (PubMed id 11470154)1, 2, 7 Kappe G.... de Jong W.W. (2001)
    5. HSPB7 is a SC35 speckle resident small heat shock pro tein. (PubMed id 19464326)1, 2 Vos M.J....Kampinga H.H. (2009)
    6. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PubMed id 15498874)1, 2 Wan D....Gu J. (2004)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    9. HSP22, a new member of the small heat shock protein superfamily, interacts with mimic of phosphorylated HSP27 (3DHSP27). (PubMed id 11342557)1, 2 Benndorf R.... Welsh M.J. (2001)
    10. Phosphopeptide derivatization signatures to identify serine and threonine phosphorylated peptides by mass spectrometry. (PubMed id 11816564)1, 2 Molloy M.P. and Andrews P.C. (2001)

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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: 26353 HGNC: 30171 AceView: HSPB8 Ensembl:ENSG00000152137 euGenes: HUgn26353
    ECgene: HSPB8 H-InvDB: HSPB8

    (According to HUGE)
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    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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    About This Section
    NameDescription
    Inherited peripheral neuropathies mutation dbhttp://www.molgen.ua.ac.be/CMTMutations/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HSPB8

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