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    HSPB8 heat shock protein family B (small) member 8 [ Homo sapiens (human) ]

    Gene ID: 26353, updated on 27-Nov-2024

    Summary

    Official Symbol
    HSPB8provided by HGNC
    Official Full Name
    heat shock protein family B (small) member 8provided by HGNC
    Primary source
    HGNC:HGNC:30171
    See related
    Ensembl:ENSG00000152137 MIM:608014; AllianceGenome:HGNC:30171
    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
    H11; HMN2; CMT2L; DHMN2; E2IG1; HMN2A; HMND2; HSP22; HSPB8-N1; HSPB8-N2
    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 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]
    Expression
    Broad expression in heart (RPKM 181.8), esophagus (RPKM 96.6) and 15 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See HSPB8 in Genome Data Viewer
    Location:
    12q24.23
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (119178931..119194746)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (119166359..119182179)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (119616736..119632551)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene serine/arginine repetitive matrix 4 Neighboring gene uncharacterized LOC112268101 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:119591444-119591976 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:119591977-119592507 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:119604289-119604789 Neighboring gene uncharacterized LOC105370024 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:119613960-119615159 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:119616339-119617088 Neighboring gene uncharacterized LOC107984440 Neighboring gene PDGFA associated protein 1 pseudogene Neighboring gene uncharacterized LOC105370026 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:119656501-119657002

    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?

    Phenotypes

    Associated conditions

    Description Tests
    Charcot-Marie-Tooth disease axonal type 2L
    MedGen: C1837552 OMIM: 608673 GeneReviews: Not available
    not available
    Neuronopathy, distal hereditary motor, type 2A
    MedGen: C1834692 OMIM: 158590 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    NOT enables protein kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cellular response to unfolded protein IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cellular response to unfolded protein IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of aggrephagy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of protein folding chaperone complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of protein folding chaperone complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    heat shock protein beta-8
    Names
    E2-induced gene 1 protein
    alpha-crystallin C chain
    heat shock 22kDa protein 8
    heat shock 27kDa protein 8
    heat shock protein family B member 8
    protein kinase H11
    small stress protein-like protein HSP22

    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_007953.2 RefSeqGene

      Range
      5001..20957
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_249

    mRNA and Protein(s)

    1. NM_014365.3NP_055180.1  heat shock protein beta-8

      See identical proteins and their annotated locations for NP_055180.1

      Status: REVIEWED

      Source sequence(s)
      BC002673
      Consensus CDS
      CCDS9189.1
      UniProtKB/Swiss-Prot
      B2R6A6, Q6FIH3, Q9UJY1, Q9UKS3
      Related
      ENSP00000281938.3, ENST00000281938.7
      Conserved Domains (1) summary
      cd06480
      Location:80170
      ACD_HspB8_like; Alpha-crystallin domain (ACD) found in mammalian 21.6 KDa small heat shock protein (sHsp) HspB8, also denoted as Hsp22 in humans, and similar proteins. sHsps are molecular chaperones that suppress protein aggregation and protect against cell stress, and ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      119178931..119194746
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      119166359..119182179
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)