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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

HSPB8 Gene

protein-coding   GIFtS: 59
GCID: GC12P119616

heat shock 22kDa protein 8

(Previous name: heat shock 27kDa protein 8 )
 Explore 43 diseases affiliated with
HSPB8 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for HSPB8    

Aliases
for HSPB8 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
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     CMT2L2 5
H111 2 5     DHMN22 5
Heat Shock 27kDa Protein 81 2     HMN2A2 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   OMIM: 6080145   UniProtKB: Q9UJY13   

Export aliases for HSPB8 gene to outside databases

Previous GC identifers: GC12P118028 GC12P118079 GC12P116624


Summaries
for HSPB8 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
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, Jul 2008)

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

Gene Wiki entry for HSPB8


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_009775.17  
Regulatory elements:
   SABiosciences 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 plasmid: HSPB8 promoter sequence
   Search SABiosciences Chromatin IP Primers for HSPB8

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for HSPB8 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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. Interacts with DNAJB6
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 modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9UJY1

    • HSPB8 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_055180.1  
    ENSEMBL proteins: 
     ENSP00000281938   ENSP00000441541  

    Human Recombinant Protein Products: 
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    Novus Biologicals HSPB8 Proteins
    Novus Biologicals HSPB8 Lysates
    Browse Sino Biological Recombinant Proteins
    ProSpec Recombinant Protein for HSPB8
    Browse Proteins at Uscn

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

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


    HSPB8 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for HSPB8 gene

    (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:
     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 family: IPB002068 Heat shock protein Hsp20

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


    Function
    for HSPB8 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

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

    miRNA
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    8/13 QIAGEN miScript miRNA 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 plasmid: HSPB8 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HSPB8 (see all 7)
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    Gene Editing
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    Clone
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    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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    Search LifeMap BioReagents cell lines for HSPB8

    In Situ Assay
    Products:       
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004672NOT protein kinase activity IDA14985082
    GO:0005515protein binding IPI16225851
    GO:0042802identical protein binding IPI14594798


    HSPB8 for ontologies           About GeneDecksing


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

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


    Pathways & Interactions
    for HSPB8 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HSPB8

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    5/17 Interacting proteins for HSPB8 (Q9UJY11, 2, 3 ENSP000002819384) via UniProtKB, MINT, STRING, and/or I2D (see all 17)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HSPB1P047921, 3, ENSP000002485534EBI-739074,EBI-352682 I2D: score=4 STRING: ENSP00000248553
    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
    HSPB6O145581, 3, ENSP000000049824EBI-739074,EBI-739095 I2D: score=2 STRING: ENSP00000004982
    About this table

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



    Drugs & Compounds
    for HSPB8 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    HSPB8 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for HSPB8
    1 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about HSPB8 

    Transcripts
    for HSPB8 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HSPB8
    8/13 QIAGEN miScript miRNA 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 plasmid: HSPB8 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HSPB8 (see all 7)
    OriGene shRNA RFP: HSPB8
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HSPB8
    Clone
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    GenScript: all cDNA clones in your preferred vector: HSPB8 (NM_014365)
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    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HSPB8
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat HSPB8
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HSPB8
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HSPB8

    Additional cDNA 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 

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

    BU732396 CR594671 CR590762 AL136936 CR614248 AI089821 AW025187 BU616975 
    CK823061 BX336523 BM682477 CR613252 AI167702 AI086919 CR617456 BQ576167 
    T30633 BM662045 CR597922 AA873477 CR611944 CA396735 CR599692 CR607849 

    GeneLoc Exon Structure


    Expression
    for HSPB8 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    HSPB8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTTGGTTGTG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    HSPB8 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Head MesenchymeBranchial Arch 1Cranial Neural Crest CellsNeural Crest
    TestisSeminiferous TubulesSertoli cellsTestis
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 5 LifeMap Cells 
    NameCategory
    PureStem™ progenitor SK17 (Embryonic Progenitor Cell)
    Blimp1- mVenus and stella-ECFP genetically modified stem cells (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    Syncytiotrophoblast-like cells (Generation of syncyt...)
    Definitive endoderm-like cells (Generation of mesend...)
    Posterior foregut-like cells (A scalable, suspensi...)

    See HSPB8 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HSPB8

    SOURCE GeneReport for Unigene cluster: Hs.400095

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

        SABiosciences Expression via Pathway-Focused 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
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    In Situ
    Assay Products:     
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    Orthologs
    for HSPB8 gene

    (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)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for HSPB8 gene from 5/17 species (see all 17)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves HSPB81 heat shock 22kDa protein 8 71.28(n)
    70.26(a)    		   416988  XM_415280.2  XP_415280.1 
    lizard
    (Anolis carolinensis)    		 Reptilia HSPB86
    		 --
    		 64(a)
    		 1 ↔ 1
    		 GL343338.1(515831-522093)
    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 
    fruit fly
    (Drosophila melanogaster)    		 Insecta l(2)efl6
    CG74096
    (see all 9)    		 --
    		 30(a)
    25(a)
    (see all 9)    		 many ↔ many
    many ↔ many
    (see all 9)    		 2R(19572174-19573063)
    3L(7747509-7748268)


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

    Paralogs
    for HSPB8 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HSPB8 gene
    CRYAA2  HSPB12  CRYAB2  HSPB2-C11orf522  HSPB22  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



    Genomic Variants
    for HSPB8 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/344 NCBI SNPs in HSPB8 are shown (see all 344)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 12 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1048943451,2
    		Cpathogenic116633054(+) ACAAAC/G/TAAAAT 3 N K mis10--------
    rs750279861,2
    		F,--116622986(+) AATATC/GCTCAG 1 -- us2k11Minor allele frequency- G:0.03WA 118
    rs753847291,2
    		F,--116623362(+) TGAGGG/ATTAAA 1 -- us2k11Minor allele frequency- A:0.09WA 118
    rs759667541,2
    		F,--116623665(+) TTTGGG/ACCAGG 1 -- us2k11Minor allele frequency- A:0.03NA 120
    rs732134501,2
    		--116624021(+) ACCACC/TCATCT 1 -- us2k10--------
    rs746483951,2
    		F,--116624559(+) GCTCTA/GGGGAA 1 -- us2k11Minor allele frequency- G:0.04WA 118
    rs115494011,2
    		C,F,H,--116625088(+) TACCTT/CTGGGG 1 -- ut518Minor allele frequency- C:0.08NS NA WA 1012
    rs2008746671,2
    		C--116625303(+) GCCCTC/TCTCCT 2 S F mis10--------
    rs604086921,2
    		C,F,--116625740(+) CTGACG/TTTGGG 1 -- int11Minor allele frequency- T:0.03WA 118
    rs22781811,2
    		H--116625940(+) TTTAAT/CATAAA 1 -- int14Minor allele frequency- C:0.00NS EA 394

    HapMap Linkage Disequilibrium report for HSPB8 (119616447 - 119658936 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for HSPB8: --
    Human Gene Mutation Database (HGMD): HSPB8

    Locus Specific Mutation Databases (LSDB): HSPB8

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    Disorders / Diseases
    for HSPB8 gene

    (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.)
    About This Section
    HSPB8 for disorders           About GeneDecksing

    OMIM gene information: 608014   
    OMIM 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

    20/43 diseases for HSPB8 (see all 43):    About MalaCards
    charcot-marie-tooth disease    estrogen-receptor positive breast cancer    charcot-marie-tooth disease, axonal, type 2l    charcot-marie-tooth neuropathy
    tooth disease    charcot-marie-tooth neuropathy type 2    neuromuscular disease    charcot-marie-tooth disease type 2
    distal hereditary motor neuropathy    distal hereditary motor neuropathy, type ii    breast cancer    spinal muscular atrophy
    amyotrophic lateral sclerosis (als)    inherited peripheral neuropathy    cerebral amyloid angiopathy    amyotrophic lateral sclerosis
    motor neuronopathy    hereditary cerebral hemorrhage with amyloidosis    lateral sclerosis    peripheral neuropathy

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

    5 Novoseek 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
    Charcot-Marie-Tooth Neuropathy Type 2

    Human Genome Epidemiology (HuGE) Navigator: HSPB8 (6 documents)

    Export disorders for HSPB8 gene to outside databases

    Publications
    for HSPB8 gene

    (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)
    About This Section

    PubMed articles for HSPB8 gene, integrated from 9 sources (see all 101):
    (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. (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, 9 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, 9 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)

    External Searches for HSPB8 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Aliases
    Disorders
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    Genome Databases showing HSPB8 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 26353 HGNC: 30171 AceView: HSPB8 Ensembl:ENSG00000152137 euGenes: HUgn26353
    ECgene: HSPB8 H-InvDB: HSPB8

    Other Databases showing HSPB8 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing HSPB8 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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/sites/GeneTests/lab/gene/HSPB8

    Intellectual Property
    for HSPB8 gene

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

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