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HSPB2-C11orf52 Gene

protein-coding   GIFtS: 23
GCID: GC11P111785

HSPB2-C11orf52 Readthrough (NMD Candidate)

  Search for HSPB2-C11orf52
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(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
HSPB2-C11orf52 Readthrough (NMD Candidate)1 2
HspB23
MKBP3
DMPK-Binding Protein3

External Ids:    HGNC: 419961   Entrez Gene: 1005280192   Ensembl: ENSG000002544457   UniProtKB: Q160823   

Export aliases for HSPB2-C11orf52 gene to outside databases

Previous GC identifer: GC11U901862


(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 HSPB2-C11orf52 Gene:
This locus represents naturally occurring read-through transcription between the neighboring heat shock 27kDa
protein 2 (HSPB2) and chromosome 11 open reading frame 52 (C11orf52) genes. The read-through transcript is a
candidate for nonsense-mediated mRNA decay (NMD) based on the use of the supported HSPB2 translational start
codon, and it is therefore unlikely to produce a protein product. (provided by RefSeq, Dec 2010)

GeneCards Summary for HSPB2-C11orf52 Gene:
HSPB2-C11orf52 (HSPB2-C11orf52 readthrough (NMD candidate)) is a protein-coding gene. An important paralog of this gene is HSPB1.

UniProtKB/Swiss-Prot: HSPB2_HUMAN, Q16082
Function: May regulate the kinase DMPK




(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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Regulatory elements:
   Search for regulatory transcription factor binding sites for HSPB2-C11orf52
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for HSPB2-C11orf52

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HSPB2-C11orf52


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

Entrez Gene cytogenetic band: 11q   Ensembl cytogenetic band:  11q23.1   HGNC cytogenetic band: 11q23.1

HSPB2-C11orf52 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HSPB2-C11orf52 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P111785:  view genomic region     (about GC identifiers)

Start:
111,783,460 bp from pter      End:
111,797,595 bp from pter
Size:
14,136 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: HSPB2_HUMAN, Q16082 (See protein sequence)
Recommended Name: Heat shock protein beta-2  
Size: 182 amino acids; 20233 Da
Subunit: Interacts with DMPK; may enhance its kinase activity
Secondary accessions: Q6I9U7

Explore the universe of human proteins at neXtProt for HSPB2-C11orf52: NX_Q16082

Explore proteomics data for HSPB2-C11orf52 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See HSPB2-C11orf52 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB


    ENSEMBL proteins: 
     ENSP00000457706   ENSP00000455839  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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 Q16082

    ProtoNet protein and cluster: Q16082

    1 Blocks protein domain: IPB002068 Heat shock protein Hsp20

    UniProtKB/Swiss-Prot: HSPB2_HUMAN, Q16082
    Similarity: Belongs to the small heat shock protein (HSP20) family


    Find genes that share domains with HSPB2-C11orf52           About GenesLikeMe


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

         UniProtKB/Swiss-Prot Summary: HSPB2_HUMAN, Q16082
    Function: May regulate the kinase DMPK

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0008047enzyme activator activity ----
         
    Find genes that share ontologies with HSPB2-C11orf52           About GenesLikeMe


    Animal Models:
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    (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
    HSPB2_HUMAN, Q16082: Cytoplasm. Nucleus. Note=Localizes to nuclear foci

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005737cytoplasm ----
    GO:0005829cytosol ----

    Find genes that share ontologies with HSPB2-C11orf52           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for HSPB2-C11orf52
    Interactions:

        Search GeneGlobe Interaction Network for HSPB2-C11orf52

    Selected Interacting proteins for HSPB2-C11orf52 (Q160821, 2, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 23)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HSPB8Q9UJY11, 3EBI-739395,EBI-739074 I2D: score=2 
    CRYABP025112, 3MINT-8408048 I2D: score=1 
    ENSG00000204490P013753I2D: score=1 
    ENSG00000206439P013753I2D: score=1 
    ENSG00000223952P013753I2D: score=1 
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006986response to unfolded protein ----
    GO:0007525somatic muscle development ----
    GO:0009408response to heat ----
    GO:0043085positive regulation of catalytic activity ----

    Find genes that share ontologies with HSPB2-C11orf52           About GenesLikeMe



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

    Browse Tocris compounds for HSPB2-C11orf52 (HSPB2)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000527616(uc009yyj.2) ENST00000534100(uc001pmh.3)
    miRNA
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    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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    See probesets specificity/sensitivity at GeneAnnot
    CGAP TAG: --

    HSPB2-C11orf52 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HSPB2-C11orf52 Protein Expression

    UniProtKB/Swiss-Prot: HSPB2_HUMAN, Q16082
    Tissue specificity: Expressed preferentially in skeletal muscle and heart but not in the lens

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

    Orthologs for HSPB2-C11orf52 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves HSPB26
    Gallus gallus heat shock 27kDa protein 2 (HSPB2), ...
    57(a)
    1 → many
    24(6230556-6234006) ENSGALG00000028966
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    59(a)
    1 → many
    GL343521.1(16605-20289)
    zebrafish
    (Danio rerio)
    Actinopterygii hspb26
    heat shock protein, alpha-crystallin-related, b2
    50(a)
    1 → many
    5(58979568-58990471) ENSDARG00000052450
    fruit fly
    (Drosophila melanogaster)
    Insecta l(2)efl6
    Hsp236
    (see all 11)
    Heat shock protein 23
    (see all 11)
    28(a)
    25(a)
    (see all 11)
    many ↔ many
    many ↔ many
    (see all 11)
    2R(19572174-19573063)
    3L(9374982-9375865)
    worm
    (Caenorhabditis elegans)
    Secernentea hsp-436
    hsp-12.26
    (see all 17)
    Protein HSP-12.2 (hsp-12.2) mRNA, complete cds
    (see all 17)
    9(a)
    30(a)
    (see all 17)
    many ↔ many
    many ↔ many
    (see all 17)
    X(6233149-6235541) WBGene00002024
    III(8138090-8139631) WBGene00002011
            Species with no ortholog for HSPB2-C11orf52

    ENSEMBL Gene Tree for HSPB2-C11orf52 (if available)
    TreeFam Gene Tree for HSPB2-C11orf52 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HSPB2-C11orf52 gene
    HSPB12  CRYAA2  CRYAB2  HSPB22  HSPB82  HSPB62  HSPB32  

    Find genes that share paralogs with HSPB2-C11orf52           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for HSPB2-C11orf52 (see all 21)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs735600271,2
    C--111785431(+) GAAGTG/TTCCAA 1 -- int11Minor allele frequency- T:0.50WA 2
    rs42525931,2
    C,F--111785565(+) GAGGCC/TGAGGC 1 -- int13Minor allele frequency- T:0.05NS NA 182
    rs1461254171,2
    --111785603(+) GAGACC/TAGCCT 1 -- int10--------
    rs1882764921,2
    --111785648(+) ATAAAA/TATTAG 1 -- int10--------
    rs1389610831,2
    C--111785673(+) GCATGC/TCTGTA 1 -- int10--------
    rs1170312561,2
    F--111785817(+) TGAATT/GAAATT 1 -- int11Minor allele frequency- G:0.01EA 120
    rs1817650111,2
    --111785885(+) CTATAA/GCTGCT 1 -- int10--------
    rs791233641,2
    F--111786342(+) GAAATT/ATGAAA 1 -- int11Minor allele frequency- A:0.01NA 120
    rs1863475691,2
    --111786465(+) TTTCCA/GTGTTC 1 -- int10--------
    rs1427935771,2
    --111786545(+) CACTGA/CAGCCT 1 -- int10--------

    HapMap Linkage Disequilibrium report for HSPB2-C11orf52 (111783460 - 111797595 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for HSPB2-C11orf52: --
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing HSPB2-C11orf52
    DNA2.0 Custom Variant and Variant Library Synthesis for HSPB2-C11orf52

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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      --

    (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 HSPB2-C11orf52 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with HSPB2-C11orf52)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Expression of conjoined genes: another mechanism for gene regulation in eukaryotes. (PubMed id 20967262)1 Prakash T....Taylor T.D. (PLoS ONE 2010)
    2. HSPB7 is a SC35 speckle resident small heat shock protein. (PubMed id 19464326)2 Vos M.J.... Kampinga H.H. (Biochim. Biophys. Acta 2009)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    5. MKBP, a novel member of the small heat shock protein family, binds and activates the myotonic dystrophy protein kinase. (PubMed id 9490724)2 Suzuki A.... Ohno S. (J. Cell Biol. 1998)
    6. Identification and characterization of the gene encoding a new member of the alpha-crystallin/small hsp family, closely linked to the alphaB-crystallin gene in a head-to-head manner. (PubMed id 9344664)2 Iwaki A.... Fukumaki Y. (Genomics 1997)
    7. Muscle autoantigens in thyroid associated ophthalmopathy: the limits of molecular genetics. (PubMed id 8227983)2 Elisei R.... Ludgate M. (J. Endocrinol. Invest. 1993)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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, Kegg, and/or H-InvDB)
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    Entrez Gene: 100528019 HGNC: 41996 Ensembl:ENSG00000254445 euGenes: HUgn100528019 ECgene: HSPB2-C11orf52
    H-InvDB: HSPB2-C11orf52

    (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
    NIEHS-SNPshttp://egp.gs.washington.edu/data/hspb2/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for HSPB2-C11orf52 gene:
    Search GeneIP for patents involving HSPB2-C11orf52

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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