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HSPB7 Gene

protein-coding   GIFtS: 55
GCID: GC01M016340

Heat Shock 27kDa Protein Family, Member 7 (Cardiovascular)

(Previous names: heat shock 27kD protein family, member 7 (cardiovascular))
  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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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Heat Shock 27kDa Protein Family, Member 7 (Cardiovascular)1 2     cvHSP2
Heat Shock 27kD Protein Family, Member 7 (Cardiovascular)1 2     Heat Shock Protein Beta-72
Cardiovascular Heat Shock Protein2 3     HspB73
CVHSP3 5     cvHsp3

External Ids:    HGNC: 52491   Entrez Gene: 271292   Ensembl: ENSG000001736417   OMIM: 6106925   UniProtKB: Q9UBY93   
ORGUL members:         

Export aliases for HSPB7 gene to outside databases

Previous GC identifers: GC01M015737 GC01M015519 GC01M9E0029 GC01M015703 GC01M016085 GC01M016213 GC01M014859


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for HSPB7 Gene:
HSPB7 (heat shock 27kDa protein family, member 7 (cardiovascular)) is a protein-coding gene. Diseases associated with HSPB7 include duchenne muscular dystrophy, and dilated cardiomyopathy. GO annotations related to this gene include protein C-terminus binding.


(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_000001.11  NC_018912.2  NT_032977.10  
Regulatory elements:
   Regulatory transcription factor binding sites in the HSPB7 gene promoter:
         SRF   USF1   SRF (504 AA)   Nkx2-5   E47   HEN1   PPAR-gamma1   USF-1   PPAR-gamma2   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHSPB7 promoter sequence
   Search Chromatin IP Primers for HSPB7

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HSPB7


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

Entrez Gene cytogenetic band: 1p36.23-p34.3   Ensembl cytogenetic band:  1p36.13   HGNC cytogenetic band: 1p36.23-p34.3

HSPB7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HSPB7 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M016340:  view genomic region     (about GC identifiers)

Start:
16,340,523 bp from pter      End:
16,346,089 bp from pter
Size:
5,567 bases      Orientation:
minus 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: HSPB7_HUMAN, Q9UBY9 (See protein sequence)
Recommended Name: Heat shock protein beta-7  
Size: 170 amino acids; 18611 Da
Subunit: Interacts with C-terminal domain of actin-binding protein 280
Secondary accessions: B3KQ37 C9K0Y0 Q9NU17
Alternative splicing: 3 isoforms:  Q9UBY9-1   Q9UBY9-2   Q9UBY9-3   (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for HSPB7: NX_Q9UBY9

Explore proteomics data for HSPB7 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See HSPB7 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_055239.1  
    ENSEMBL proteins: 
     ENSP00000391578   ENSP00000310111   ENSP00000364870   ENSP00000417966   ENSP00000419477  
     ENSP00000385472   ENSP00000445013  

    HSPB7 Human Recombinant Protein Products:

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    OriGene Purified Protein for HSPB7
    OriGene Protein Over-expression Lysate for HSPB7
    OriGene MassSpec for HSPB7
    OriGene Custom Protein Services for HSPB7
    GenScript Custom Purified and Recombinant Proteins Services for HSPB7
    Novus Biologicals HSPB7 Proteins
    Novus Biologicals HSPB7 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for HSPB7
    Browse Proteins at Cloud-Clone Corp.

    HSPB7 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for HSPB7
    OriGene Custom Antibody Services for HSPB7
    Novus Biologicals HSPB7 Antibodies
    Abcam antibodies for HSPB7
    Browse Antibodies at Cloud-Clone Corp.
    Search ThermoFisher Antibodies for HSPB7
    LSBio Antibodies in human, mouse, rat for HSPB7

    HSPB7 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for HSPB7
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for HSPB7
    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 Q9UBY9

    ProtoNet protein and cluster: Q9UBY9

    1 Blocks protein domain: IPB002068 Heat shock protein Hsp20

    UniProtKB/Swiss-Prot: HSPB7_HUMAN, Q9UBY9
    Similarity: Belongs to the small heat shock protein (HSP20) family


    HSPB7 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:
         Genatlas biochemistry entry for HSPB7:
    heat shock protein 7,highly expressed in heart,also expressed in skeletal muscle and at low levels in aorta and
    adipose tissues,interacting with alpha filamin,potentially involved in chaperone activity and maintenance of
    cytoskeletal network in muscle,alpha criltallin/small hsp family

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI14594798
    GO:0008022protein C-terminus binding TAS10593960
    GO:0031005filamin binding IEA--
         
    HSPB7 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for HSPB7:
     Decreased POU5F1-GFP protein e 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HSPB7
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for HSPB7

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HSPB7
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HSPB7

    miRNA
    Products:
        
    miRTarBase miRNAs that target HSPB7:
    hsa-mir-98-5p (MIRT027658), hsa-mir-124-3p (MIRT022635), hsa-mir-26b-5p (MIRT029397)

    Block miRNA regulation of human, mouse, rat HSPB7 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate HSPB7 (see all 10):
    hsa-miR-615-5p hsa-miR-548d-3p hsa-miR-146b-3p hsa-miR-548s hsa-miR-320e hsa-miR-143 hsa-miR-1207-3p hsa-miR-4276
    SwitchGear 3'UTR luciferase reporter plasmidHSPB7 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for HSPB7
    Predesigned siRNA for gene silencing in human, mouse, rat HSPB7

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for HSPB7

    Clone
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    OriGene clones in human, mouse for HSPB7 (see all 5)
    OriGene ORF clones in mouse, rat for HSPB7
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: HSPB7 (NM_014424)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HSPB7
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HSPB7

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for HSPB7
    Browse ESI BIO Cell Lines and PureStem Progenitors for HSPB7 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HSPB7


    (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
    HSPB7_HUMAN, Q9UBY9: Cytoplasm. Nucleus. Nucleus, Cajal body. Note=Resides in sub-nuclear structures known as
    SC35 speckles or nuclear splicing speckles
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3
    mitochondrion2
    cytoskeleton1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA19464326
    GO:0005737cytoplasm IDA19464326
    GO:0005739mitochondrion IEA--
    GO:0015030Cajal body IEA--
    GO:0015629actin cytoskeleton IEA--

    HSPB7 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 HSPB7: 
              Molecular Toxicology PathwayFinder 384HT in human mouse rat
              Heat Shock Proteins & Chaperones in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for HSPB7

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    4 Interacting proteins for HSPB7 (Q9UBY91, 3 ENSP000003101114) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HSPB8Q9UJY11, 3, ENSP000002819384EBI-739361,EBI-739074 I2D: score=3 STRING: ENSP00000281938
    KTI12ENSP000003606764STRING: ENSP00000360676
    NRD1ENSP000003468904STRING: ENSP00000346890
    HSPA4ENSP000003029614STRING: ENSP00000302961
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006950response to stress ----
    GO:0006986response to unfolded protein TAS10593960
    GO:0008016regulation of heart contraction TAS10593960

    HSPB7 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 HSPB7



    (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,
    Conferences by KenesGroup, 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 HSPB7 gene: 
    NM_014424.4  

    Unigene Cluster for HSPB7:

    Heat shock 27kDa protein family, member 7 (cardiovascular)
    Hs.502612  [show with all ESTs]
    Unigene Representative Sequence: NM_014424
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000411503 ENST00000442459 ENST00000311890(uc001axo.2 uc001axp.2 uc001axq.2 uc001axr.2)
    ENST00000375718(uc001axs.2) ENST00000463576 ENST00000487046 ENST00000406363
    ENST00000545268
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat HSPB7 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate HSPB7 (see all 10):
    hsa-miR-615-5p hsa-miR-548d-3p hsa-miR-146b-3p hsa-miR-548s hsa-miR-320e hsa-miR-143 hsa-miR-1207-3p hsa-miR-4276
    SwitchGear 3'UTR luciferase reporter plasmidHSPB7 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for HSPB7
    Predesigned siRNA for gene silencing in human, mouse, rat HSPB7
    Clone
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    OriGene clones in human, mouse for HSPB7 (see all 5)
    OriGene ORF clones in mouse, rat for HSPB7
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: HSPB7 (NM_014424)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HSPB7
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HSPB7
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for HSPB7
    OriGene qSTAR qPCR primer pairs in human, mouse for HSPB7
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HSPB7
      QuantiTect SYBR Green Assays in human, mouse, rat HSPB7
      QuantiFast Probe-based Assays in human, mouse, rat HSPB7

    Additional mRNA sequence: 

    AF155908.1 AJ243191.1 AK057295.1 AK075151.1 AK092275.1 AK095911.1 AK296598.1 AL832181.1 
    BC006319.2 BX537990.1 CR749298.1 CR749419.1 

    21 DOTS entries:

    DT.99934771  DT.218265  DT.100786570  DT.100786572  DT.97765030  DT.40129503  DT.40305217  DT.121415000 
    DT.75103990  DT.121414998  DT.95201047  DT.95201050  DT.99957297  DT.121415002  DT.121415182  DT.121415197 
    DT.91721953  DT.91752336  DT.95201045  DT.95201019  DT.95238349 

    Selected AceView cDNA sequences (see all 258):

    BQ637483 AL694275 CF552429 C04451 CA424992 CB267862 AI479356 AI828028 
    AI334158 AA723983 CB267751 T32631 AW082736 BX503032 AK092275 BF509719 
    AA770460 BE250170 AI745224 AJ710844 AF155908 AJ708165 CR749298 BV203412 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for HSPB7 (see all 10)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3a · 3b · 3c · 3d ^ 4a · 4b · 4c · 4d · 4e · 4f · 4g · 4h · 4i · 4j
    SP1:        -     -                 -                                                                                 
    SP2:                                -                                                                                 
    SP3:                                                                                                                  
    SP4:                                                  -                                                               
    SP5:                                                                                                                  


    ECgene alternative splicing isoforms for HSPB7

    (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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    HSPB7 expression in normal human tissues (normalized intensities)      HSPB7 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCTCTCTGGT
    HSPB7 Expression
    About this image


    HSPB7 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 4 entries
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
     
     Cartilage (Muscoskeletal System)    fully expand to see all 3 entries
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Adipose (Muscoskeletal System)
             Visceral White Adipocytes Visceral White Adipose
    HSPB7 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HSPB7 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.502612

    UniProtKB/Swiss-Prot: HSPB7_HUMAN, Q9UBY9
    Tissue specificity: Isoform 1 is highly expressed in adult and fetal heart, skeletal muscle, and at a much lower
    levels in adipose tissue and in aorta. Undetectable in other tissues. Isoform 2 and isoform 3 are poorly detected
    in heart

        Pathway & Disease-focused RT2 Profiler PCR Arrays including HSPB7: 
              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 HSPB7
    OriGene qSTAR qPCR primer pairs in human, mouse for HSPB7
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HSPB7
    QuantiTect SYBR Green Assays in human, mouse, rat HSPB7
    QuantiFast Probe-based Assays in human, mouse, rat HSPB7
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HSPB7

    (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 HSPB7 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hspb71 , 5 heat shock protein family, member 7 (cardiovascular)1, 5 86.79(n)1
    94.08(a)1
      4 (74.08 cM)5
    298181  NM_013868.41  NP_038896.21 
     1414207795 
    chicken
    (Gallus gallus)
    Aves HSPB71 heat shock 27kDa protein family, member 7 (cardiovascular) 77.12(n)
    77.97(a)
      430280  XM_427836.4  XP_427836.2 
    lizard
    (Anolis carolinensis)
    Reptilia HSPB76
    heat shock 27kDa protein family, member 7 (cardiov...
    68(a)
    1 ↔ 1
    GL343609.1(348103-351257)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.26032 Xenopus laevis transcribed sequence with weak similarity more 74.06(n)    BG371242.1 
    zebrafish
    (Danio rerio)
    Actinopterygii hspb71 heat shock protein family, alpha-crystallin-related, more 65.42(n)
    66.46(a)
      450019  NM_001006040.1  NP_001006040.1 


    ENSEMBL Gene Tree for HSPB7 (if available)
    TreeFam Gene Tree for HSPB7 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    Paralogs for HSPB7 gene
    2 SIMAP similar genes for HSPB7 using alignment to 5 protein entries:     HSPB7_HUMAN (see all proteins):
    DKFZp686A14192    DKFZp779D0968

    HSPB7 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 HSPB7 (see all 228)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs601473231,2
    C--16340048(+) GGACAC/-CCCCC 1 -- int11Minor allele frequency- -:0.00NA 2
    rs1126217761,2
    C,F--16340078(+) CTTTGC/TCTCTG 1 -- int12Minor allele frequency- T:0.04NA 122
    rs1113975341,2
    F--16340190(+) GCCCAG/CCTTTG 1 -- int11Minor allele frequency- C:0.50CSA 2
    rs1134627951,2
    C--16340217(+) CTGAA-/ACAGT 
     GCTTGGC
    AACAG
    1 -- cds11Minor allele frequency- ACAGTGCTTGGC:0.50CSA 2
    rs579722211,2
    C--16340224(+) AGTGCTTGGCAC 
     AGTGC
    /-
    CCGCC
    1 -- cds11Minor allele frequency- -:0.00NA 2
    rs1479807561,2
    C--16340264(+) GGAAAG/TAAATA 1 -- int10--------
    rs1407382331,2
    C--16340306(+) AAGGTG/TTTGCA 1 -- int10--------
    rs1501104851,2
    --16340384(+) AGGAAC/TGCCCA 1 -- int10--------
    rs17636011,2
    C,F,H--16340460(-) AGAAAA/CAGACA 1 -- int130Minor allele frequency- C:0.29MN EA NA NS WA CSA 4389
    rs1119264601,2
    C--16340522(+) CCAGAT/AGTCTG 1 -- spd11Minor allele frequency- A:0.00CSA 1

    HapMap Linkage Disequilibrium report for HSPB7 (16340523 - 16346089 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for HSPB7 (see all 14):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv508936CNV Insertion20534489
    dgv176n71CNV Loss21882294
    dgv12n27CNV Loss19166990
    dgv174n71CNV Loss21882294
    nsv871485CNV Loss21882294
    nsv470698CNV Loss18288195
    nsv871695CNV Loss21882294
    nsv524045CNV Loss19592680
    nsv520148CNV Loss19592680
    nsv871162CNV Gain21882294

    Human Gene Mutation Database (HGMD): HSPB7
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing HSPB7
    DNA2.0 Custom Variant and Variant Library Synthesis for HSPB7

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 610692    OMIM disorders: --

    4 diseases for HSPB7:    About MalaCards
    duchenne muscular dystrophy    dilated cardiomyopathy    muscular dystrophy    cerebritis


    HSPB7 for disorders           About GeneDecksing

    Genetic Association Database (GAD): HSPB7
    Human Genome Epidemiology (HuGE) Navigator: HSPB7 (6 documents)

    Export disorders for HSPB7 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 HSPB7 gene, integrated from 10 sources (see all 19):
    (articles sorted by number of sources associating them with HSPB7)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of cvHsp. A novel human small stress protein selectively expressed in cardiovascular and insulin- sensitive tissues. (PubMed id 10593960)1, 2, 3 Krief S.... Bril A. (J. Biol. Chem. 1999)
    2. Genetic association study identifies HSPB7 as a risk gene for idiopathic dilated cardiomyopathy. (PubMed id 20975947)1, 4 Stark K....Hengstenberg C. (PLoS Genet. 2010)
    3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    5. 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)
    6. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    7. 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. (Genome Res. 2004)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. Association of plasma concentration of small heat shock protein B7 with acute coronary syndrome. (PubMed id 22785082)1 Chiu T.F....Yang R.B. (Circ. J. 2012)
    10. HSPB1, HSPB6, HSPB7 and HSPB8 protect against RhoA GTPase-induced remodeling in tachypaced atrial myocytes. (PubMed id 21731611)1 Ke L....Brundel B.J. (PLoS ONE 2011)

    (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: 27129 HGNC: 5249 AceView: HSPB7 Ensembl:ENSG00000173641 euGenes: HUgn27129
    ECgene: HSPB7 H-InvDB: HSPB7

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for HSPB7 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for HSPB7 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for HSPB7 gene:
    Search GeneIP for patents involving HSPB7

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



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