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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
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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)

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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)