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    HSPB2 heat shock protein family B (small) member 2 [ Homo sapiens (human) ]

    Gene ID: 3316, updated on 5-Mar-2024

    Summary

    Official Symbol
    HSPB2provided by HGNC
    Official Full Name
    heat shock protein family B (small) member 2provided by HGNC
    Primary source
    HGNC:HGNC:5247
    See related
    Ensembl:ENSG00000170276 MIM:602179; AllianceGenome:HGNC:5247
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MKBP; HSP27; Hs.78846; LOH11CR1K
    Summary
    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 protein is expressed preferentially in the heart and skeletal muscle. This protein regulates Myotonic Dystrophy Protein Kinase, which plays an important role in maintenance of muscle structure and function. [provided by RefSeq, Dec 2012]
    Expression
    Biased expression in heart (RPKM 45.3), fat (RPKM 26.7) and 13 other tissues See more
    Orthologs
    NEW
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    Genomic context

    Location:
    11q23.1
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (111912734..111914093)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (111922978..111924337)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (111783458..111784817)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene cilia and flagella associated protein 68 Neighboring gene ribosomal protein L37a pseudogene 8 Neighboring gene HSPB2-C11orf52 readthrough (NMD candidate) Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:111784209-111784862 Neighboring gene Sharpr-MPRA regulatory region 8432 Neighboring gene crystallin alpha B Neighboring gene chromosome 11 open reading frame 52 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3903 Neighboring gene RNA, 5S ribosomal pseudogene 351 Neighboring gene DIX domain containing 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Readthrough HSPB2-C11orf52

    Readthrough gene: HSPB2-C11orf52, Included gene: C11orf52

    Clone Names

    • MGC133245

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables enzyme activator activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables structural constituent of eye lens IEA
    Inferred from Electronic Annotation
    more info
     
    enables unfolded protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in negative regulation of apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein refolding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in response to heat IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in response to unfolded protein NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in somatic muscle development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    heat shock protein beta-2
    Names
    DMPK-binding protein
    heat shock 27kDa protein 2
    heat-shock protein beta-2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_033080.2 RefSeqGene

      Range
      4999..6358
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001541.4NP_001532.1  heat shock protein beta-2

      See identical proteins and their annotated locations for NP_001532.1

      Status: REVIEWED

      Source sequence(s)
      AB096250, AI131288, AP000907
      Consensus CDS
      CCDS8352.1
      UniProtKB/Swiss-Prot
      Q16082, Q6I9U7
      UniProtKB/TrEMBL
      A8KAH6
      Related
      ENSP00000302476.3, ENST00000304298.4
      Conserved Domains (1) summary
      cl00175
      Location:67148
      alpha-crystallin-Hsps_p23-like; alpha-crystallin domain (ACD) found in alpha-crystallin-type small heat shock proteins, and a similar domain found in p23 (a cochaperone for Hsp90) and in other p23-like proteins.

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      111912734..111914093
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      111922978..111924337
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)