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HSPB8 Gene

protein-coding   GIFtS: 61
GCID: GC12P119616

Heat Shock 22kDa Protein 8

(Previous name: heat shock 27kDa protein 8)
  See 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 22kDa Protein 81 2     CMT2L2 5
E2IG12 3 5     DHMN22 5
Heat Shock 27kDa Protein 81 2     H112 5
Alpha-Crystallin C Chain2 3     HMN2A2 5
Protein Kinase H112 3     HMN22
Small Stress Protein-Like Protein HSP222 3     Heat Shock Protein Beta-82
HSP222 3     CRYAC3
E2-Induced Gene 1 Protein2 3     HspB83

External Ids:    HGNC: 301711   Entrez Gene: 263532   Ensembl: ENSG000001521377   OMIM: 6080145   UniProtKB: Q9UJY13   

Export aliases for HSPB8 gene to outside databases

Previous GC identifers: GC12P118028 GC12P118079 GC12P116624


(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 HSPB8 Gene:
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, Jul 2008)

GeneCards Summary for HSPB8 Gene:
HSPB8 (heat shock 22kDa protein 8) is a protein-coding gene. Diseases associated with HSPB8 include charcot-marie-tooth disease type 2, and distal hereditary motor neuropathy, type ii. GO annotations related to this gene include protein kinase activity and identical protein binding. An important paralog of this gene is HSPB1.

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

Gene Wiki entry for HSPB8 Gene


(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:
NC_000012.12  NC_018923.2  NT_029419.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the HSPB8 gene promoter:
         NF-YA   CBF-C   HNF-4alpha1   CBF-A   CBF-B   ZIC2/Zic2   CP1A   CP1C   NF-Y   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHSPB8 promoter sequence
   Search Chromatin IP Primers for HSPB8

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HSPB8


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 information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P119616:  view genomic region     (about GC identifiers)

Start:
119,616,447 bp from pter      End:
119,658,936 bp from pter
Size:
42,490 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., 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: HSPB8_HUMAN, Q9UJY1 (See protein sequence)
Recommended Name: Heat shock protein beta-8  
Size: 196 amino acids; 21604 Da
Subunit: Monomer. Interacts with HSPB1. Interacts with DNAJB6
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

Explore proteomics data for HSPB8 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See HSPB8 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_055180.1  
    ENSEMBL proteins: 
     ENSP00000281938   ENSP00000441541  

    HSPB8 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for HSPB8
    OriGene MassSpec for HSPB8
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    Novus Biologicals HSPB8 Proteins
    Novus Biologicals HSPB8 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for HSPB8
    Browse Proteins at Cloud-Clone Corp.

    HSPB8 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for HSPB8
    Cell Signaling Technology (CST) Antibodies for HSPB8 
    OriGene Antibodies for HSPB8
    OriGene Custom Antibody Services for HSPB8
    Novus Biologicals HSPB8 Antibodies
    Abcam antibodies for HSPB8
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibody for HSPB8
    LSBio Antibodies in human, mouse, rat for HSPB8

    HSPB8 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for HSPB8
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (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 Q9UJY1

    ProtoNet protein and cluster: Q9UJY1

    1 Blocks protein domain: IPB002068 Heat shock protein Hsp20

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


    HSPB8 for domains           About GeneDecksing


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

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

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004672NOT protein kinase activity IDA14985082
    GO:0005515protein binding IPI14594798
    GO:0042802identical protein binding IPI14594798
         
    HSPB8 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for HSPB8:
     Decreased focal adhesion (FA)   Decreased substrate adherent c  Gemcitabine induced cell-death 

         7 MGI mutant phenotypes (inferred from 1 allele(MGI details for Hspb8):
     cardiovascular system  cellular  homeostasis/metabolism  immune system  mortality/aging 
     muscle  respiratory system 

    HSPB8 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Hspb8tm1.1Depr for HSPB8

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HSPB8
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for HSPB8

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HSPB8
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HSPB8

    miRNA
    Products:
        
    miRTarBase miRNAs that target HSPB8:
    hsa-mir-1226-3p (MIRT036507)

    Block miRNA regulation of human, mouse, rat HSPB8 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate HSPB8 (see all 13):
    hsa-miR-203 hsa-miR-3607-3p hsa-miR-19b-2* hsa-miR-218-1* hsa-miR-548b-3p hsa-miR-3922-3p hsa-miR-3667-5p hsa-miR-2355-5p
    SwitchGear 3'UTR luciferase reporter plasmidHSPB8 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for HSPB8
    Predesigned siRNA for gene silencing in human, mouse, rat HSPB8

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for HSPB8

    Clone
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    OriGene clones in human, mouse for HSPB8 (see all 6)
    OriGene ORF clones in mouse, rat for HSPB8
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: HSPB8 (NM_014365)
    Sino Biological Human cDNA Clone for HSPB8
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HSPB8
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HSPB8

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for HSPB8
    Browse ESI BIO Cell Lines and PureStem Progenitors for HSPB8 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HSPB8


    (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
    HSPB8_HUMAN, Q9UJY1: Cytoplasm. Nucleus. Note=Translocates to nuclear foci during heat shock
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3
    chloroplast2
    cytoskeleton1
    extracellular1
    mitochondrion1
    vacuole1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular IDA--
    GO:0005634nucleus IDA19464326
    GO:0005737cytoplasm IDA19464326

    HSPB8 for ontologies           About GeneDecksing


    (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 HSPB8: 
              Notch Signaling Targets in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat
              Heat Shock Proteins & Chaperones in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for HSPB8

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    Selected Interacting proteins for HSPB8 (Q9UJY11, 2, 3 ENSP000002819384) via UniProtKB, MINT, STRING, and/or I2D (see all 21)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HSPB1P047921, 3, ENSP000002485534EBI-739074,EBI-352682 I2D: score=4 STRING: ENSP00000248553
    HSPB2-C11orf52Q160821, 3EBI-739074,EBI-739395 I2D: score=2 
    HSPB2Q160821, 3, ENSP000003024764EBI-739074,EBI-739395 I2D: score=2 STRING: ENSP00000302476
    HSPB7Q9UBY91, 3, ENSP000003101114EBI-739074,EBI-739361 I2D: score=3 STRING: ENSP00000310111
    CRYABP025111, 3, ENSP000002272514EBI-739074,EBI-739060 I2D: score=1 STRING: ENSP00000227251
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006950response to stress IEA--
    GO:0008150biological_process ND--
    GO:0008219cell death IEA--

    HSPB8 for ontologies           About GeneDecksing



    (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 HSPB8

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



    HSPB8 for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for HSPB8 gene: 
    NM_014365.2  

    Unigene Cluster for HSPB8:

    Heat shock 22kDa protein 8
    Hs.400095  [show with all ESTs]
    Unigene Representative Sequence: NM_014365
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000281938(uc001txb.3) ENST00000541798 ENST00000542496
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat HSPB8 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate HSPB8 (see all 13):
    hsa-miR-203 hsa-miR-3607-3p hsa-miR-19b-2* hsa-miR-218-1* hsa-miR-548b-3p hsa-miR-3922-3p hsa-miR-3667-5p hsa-miR-2355-5p
    SwitchGear 3'UTR luciferase reporter plasmidHSPB8 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for HSPB8
    Predesigned siRNA for gene silencing in human, mouse, rat HSPB8
    Clone
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    OriGene clones in human, mouse for HSPB8 (see all 6)
    OriGene ORF clones in mouse, rat for HSPB8
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: HSPB8 (NM_014365)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HSPB8
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HSPB8
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for HSPB8
    OriGene qSTAR qPCR primer pairs in human, mouse for HSPB8
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HSPB8
      QuantiTect SYBR Green Assays in human, mouse, rat HSPB8
      QuantiFast Probe-based Assays in human, mouse, rat HSPB8

    Additional mRNA sequence: 

    AF133207.1 AF191017.1 AF217987.1 AF250138.1 AK312501.1 AL136936.1 BC002673.2 BT006876.1 
    CR533453.1 

    11 DOTS entries:

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

    Selected AceView cDNA sequences (see all 347):

    BF724947 F21721 BM817930 CR621727 BM682477 AA873477 BX336523 BC002673 
    BM726490 BM687925 BX359777 CR608992 BQ101004 BM662045 NM_014365 BU616975 
    BU732396 AI356117 AI741928 BX366300 CR611633 CR533453 BM705912 AL136936 

    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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    HSPB8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTTGGTTGTG
    HSPB8 Expression
    About this image


    HSPB8 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 12) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Telencephalon
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Midbrain tegmentum
     
     Thymus (Hematopoietic System)
             Thymus
     
     Inner Cell Mass (Early Embryonic Tissues)
             Blimp1- mVenus and stella-ECFP genetically modified stem cells
     
     Bone (Muscoskeletal System)
             Membranous Facial Bones
    HSPB8 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HSPB8 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.400095

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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including HSPB8: 
              Notch Signaling Targets in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat
              Heat Shock Proteins & Chaperones in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for HSPB8
    OriGene qSTAR qPCR primer pairs in human, mouse for HSPB8
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HSPB8
    QuantiTect SYBR Green Assays in human, mouse, rat HSPB8
    QuantiFast Probe-based Assays in human, mouse, rat HSPB8
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HSPB8

    (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 chordates.

    Orthologs for HSPB8 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hspb81 , 5 heat shock protein 81, 5 87.24(n)1
    94.39(a)1
      5 (56.41 cM)5
    808881  NM_030704.21  NP_109629.11 
     1164084915 
    chicken
    (Gallus gallus)
    Aves HSPB81 heat shock 22kDa protein 8 71.26(n)
    69.9(a)
      416988  XM_415280.3  XP_415280.1 
    lizard
    (Anolis carolinensis)
    Reptilia HSPB86
    heat shock 22kDa protein 8
    68(a)
    1 ↔ 1
    GL343338.1(513698-527697)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC644082 hypothetical protein MGC64408 72.31(n)    BC054225.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufc09c112 wufc09c11 75.48(n)   323760  BC057441.1 


    ENSEMBL Gene Tree for HSPB8 (if available)
    TreeFam Gene Tree for HSPB8 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HSPB8 gene
    HSPB12  CRYAA2  CRYAB2  HSPB22  HSPB2-C11orf522  HSPB62  HSPB32  
    3 SIMAP similar genes for HSPB8 using alignment to 2 protein entries:     HSPB8_HUMAN (see all proteins):
    CRYAB    HSPB1    HSPB6

    HSPB8 for paralogs           About GeneDecksing



    (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 HSPB8 (see all 411)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0185054
    Neuronopathy, distal hereditary motor, 2A (HMN2A)4--see VAR_0185052 K N mis40--------
    VAR_0422444
    A glioblastoma multiforme sample4--see VAR_0422442 G S mis40--------
    VAR_0185044
    Neuronopathy, distal hereditary motor, 2A (HMN2A)4--see VAR_0185042 K E mis40--------
    rs1048943511,2
    Cpathogenic1119417680(+) TCACAA/GAGAAA 2 K E mis10--------
    rs1048943451,2
    Cuntested1119417682(+) ACAAAC/G/TAAAAT 3 N K mis10--------
    rs1467372231,2
    --119407434(+) TAACTA/CTCGAG 1 -- us2k10--------
    rs1924660301,2
    --119407436(+) ACTATC/TGAGTC 1 -- us2k10--------
    rs1163389701,2
    F--119407531(+) CCGTAT/CTATTA 1 -- us2k11Minor allele frequency- C:0.03WA 118
    rs750279861,2
    C,F--119407618(+) AATATC/GCTCAG 1 -- us2k11Minor allele frequency- G:0.03WA 118
    rs1391766181,2
    --119407669(+) AAGCCC/TACACA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for HSPB8 (119616447 - 119658936 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for HSPB8:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv902CNV Loss18451855
    nsv899550CNV Gain21882294

    Human Gene Mutation Database (HGMD): HSPB8
    Locus Specific Mutation Databases (LSDB): HSPB8

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing HSPB8
    DNA2.0 Custom Variant and Variant Library Synthesis for HSPB8

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608014   
    OMIM disorders: 158590  608673  
    UniProtKB/Swiss-Prot: HSPB8_HUMAN, Q9UJY1
  • Neuronopathy, distal hereditary motor, 2A (HMN2A) [MIM:158590]: 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
  • Charcot-Marie-Tooth disease 2L (CMT2L) [MIM:608673]: An axonal form of Charcot-Marie-Tooth disease, a
    disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the
    peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two
    main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating
    neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies
    (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration 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. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • Selected diseases for HSPB8 (see all 46):    
    About MalaCards
    charcot-marie-tooth disease type 2    distal hereditary motor neuropathy, type ii    autosomal dominant charcot-marie-tooth disease type 2    neuromuscular disease
    estrogen-receptor positive breast cancer    charcot-marie-tooth disease, axonal, type 2l    charcot-marie-tooth neuropathy type 2l    neuropathy, distal hereditary motor, type iia
    distal hereditary motor neuronopathy, type iia    hereditary cerebral hemorrhage with amyloidosis    distal hereditary motor neuropathy    inherited peripheral neuropathy
    charcot-marie-tooth neuropathy type 2    tooth disease    charcot-marie-tooth disease    cerebral amyloid angiopathy
    peripheral neuropathy    spinal muscular atrophy    limb-girdle muscular dystrophy    neurologic diseases

    3 diseases from the University of Copenhagen DISEASES database for HSPB8:
    Neuropathy     Motor neuron disease     Myopathy

    HSPB8 for disorders           About GeneDecksing

    5 Novoseek inferred disease relationships for HSPB8 gene    About this table

    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)

    GeneTests: HSPB8
    GeneReviews: HSPB8
    Genetic Association Database (GAD): HSPB8
    Human Genome Epidemiology (HuGE) Navigator: HSPB8 (6 documents)

    Export disorders for HSPB8 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 HSPB8 gene, integrated from 10 sources (see all 102):
    (articles sorted by number of sources associating them with HSPB8)
        Utopia: connect your pdf to the dynamic
    world of online information

    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, 9 Smith C.C.... Aurelian L. (J. Biol. Chem. 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. (Cancer Res. 2000)
    3. Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy. (PubMed id 15122253)1, 2, 9 Irobi J.... Timmerman V. (Nat. Genet. 2004)
    4. Characterization of two novel human small heat shock proteins: protein kinase-related HspB8 and testis-specific HspB9. (PubMed id 11470154)1, 2, 9 Kappe G.... de Jong W.W. (Biochim. Biophys. Acta 2001)
    5. MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer. (PubMed id 20819778)1, 4 Zhang X....Wu X. (Carcinogenesis 2010)
    6. Genetic susceptibility to distinct bladder cancer subphenotypes. (PubMed id 19692168)1, 4 Guey L.T....Malats N. (Eur. Urol. 2010)
    7. PTEN identified as important risk factor of chronic obstructive pulmonary disease. (PubMed id 19625176)1, 4 Hosgood H.D....Lan Q. (Respir Med 2009)
    8. Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China. (PubMed id 19170196)1, 4 Shen M....Lan Q. (Environ. Mol. Mutagen. 2009)
    9. 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)
    10. Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway. (PubMed id 18676680)1, 4 Hosgood H.D....Lan Q. (Carcinogenesis 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Aliases
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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 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 HSPB8 Pharmacogenomics, SNPs, Pathways
    Inherited peripheral neuropathies mutation dbhttp://www.molgen.ua.ac.be/CMTMutations/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=HSPB8[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for HSPB8 gene:
    Search GeneIP for patents involving HSPB8

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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