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    HSF2 heat shock transcription factor 2 [ Homo sapiens (human) ]

    Gene ID: 3298, updated on 28-Oct-2024

    Summary

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    Official Symbol
    HSF2provided by HGNC
    Official Full Name
    heat shock transcription factor 2provided by HGNC
    Primary source
    HGNC:HGNC:5225
    See related
    Ensembl:ENSG00000025156 MIM:140581; AllianceGenome:HGNC:5225
    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
    HSF 2; HSTF 2
    Summary
    The protein encoded by this gene belongs to the HSF family of transcription factors that bind specifically to the heat-shock promoter element and activate transcription. Heat shock transcription factors activate heat-shock response genes under conditions of heat or other stresses. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]
    Expression
    Broad expression in testis (RPKM 22.1), bone marrow (RPKM 8.8) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See HSF2 in Genome Data Viewer
    Location:
    6q22.31
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (122399551..122433119)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (123587813..123621398)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (122720696..122754264)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377979 Neighboring gene Sharpr-MPRA regulatory region 11019 Neighboring gene high mobility group box 3 pseudogene 18 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:122253710-122254305 Neighboring gene RNA, U1 small nuclear 18, pseudogene Neighboring gene Sharpr-MPRA regulatory region 11815 Neighboring gene NANOG hESC enhancer GRCh37_chr6:122714378-122714996 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17514 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:122721093-122721592 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25021 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25020 Neighboring gene serine incorporator 1 Neighboring gene uncharacterized LOC124901391 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:122884400-122884937 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:122884938-122885474 Neighboring gene cAMP-dependent protein kinase inhibitor beta

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Heat-shock factor 2 is a suppressor of prostate cancer invasion. Björk JK, et al. Oncogene, 2016 Apr 7. PMID 26119944, Free PMC Article
    2. Heat-shock transcription factor 2 promotes sodium butyrate-induced autophagy by inhibiting mTOR in ulcerative colitis. Zhang F, et al. Exp Cell Res, 2020 Mar 1. PMID 31923427
    3. Heat shock transcription factor 2 inhibits intestinal epithelial cell apoptosis through the mitochondrial pathway in ulcerative colitis. Wang W, et al. Biochem Biophys Res Commun, 2020 Jun 18. PMID 32446363
    4. Heat shock transcription factor 2 predicts mucosal healing and promotes mucosal repair of ulcerative colitis. Wen Y, et al. Scand J Gastroenterol, 2020 Jun. PMID 32538201
    5. A dominant-negative mutation of HSF2 associated with idiopathic azoospermia. Mou L, et al. Hum Genet, 2013 Feb. PMID 23064888

    See all (83) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Comprehensive analysis of human tissues reveals unique expression and localization patterns of HSF1 and HSF2.
      Title: Comprehensive analysis of human tissues reveals unique expression and localization patterns of HSF1 and HSF2.
    2. Genome-wide association study reveals HSF2, GJA1 and TRIM36 as susceptibility genes for preeclampsia: a community-based population study in Tianjin, China.
      Title: Genome-wide association study reveals HSF2, GJA1 and TRIM36 as susceptibility genes for preeclampsia: a community-based population study in Tianjin, China.
    3. Heat Shock Transcription Factor 2 Is Significantly Involved in Neurodegenerative Diseases, Inflammatory Bowel Disease, Cancer, Male Infertility, and Fetal Alcohol Spectrum Disorder: The Novel Mechanisms of Several Severe Diseases.
      Title: Heat Shock Transcription Factor 2 Is Significantly Involved in Neurodegenerative Diseases, Inflammatory Bowel Disease, Cancer, Male Infertility, and Fetal Alcohol Spectrum Disorder: The Novel Mechanisms of Several Severe Diseases.
    4. CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder.
      Title: CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder.
    5. Polymorphisms in the HSF2, LRRC6, MEIG1 and PTIP genes correlate with sperm motility in idiopathic infertility.
      Title: Polymorphisms in the HSF2, LRRC6, MEIG1 and PTIP genes correlate with sperm motility in idiopathic infertility.
    6. Heat shock transcription factor 2 predicts mucosal healing and promotes mucosal repair of ulcerative colitis.
      Title: Heat shock transcription factor 2 predicts mucosal healing and promotes mucosal repair of ulcerative colitis.
    7. The proteostasis guardian HSF1 directs the transcription of its paralog and interactor HSF2 during proteasome dysfunction.
      Title: The proteostasis guardian HSF1 directs the transcription of its paralog and interactor HSF2 during proteasome dysfunction.
    8. Heat shock transcription factor 2 reduces the secretion of IL-1beta by inhibiting NLRP3 inflammasome activation in ulcerative colitis.
      Title: Heat shock transcription factor 2 reduces the secretion of IL-1β by inhibiting NLRP3 inflammasome activation in ulcerative colitis.
    9. Heat shock transcription factor 2 inhibits intestinal epithelial cell apoptosis through the mitochondrial pathway in ulcerative colitis.
      Title: Heat shock transcription factor 2 inhibits intestinal epithelial cell apoptosis through the mitochondrial pathway in ulcerative colitis.
    10. Heat-shock transcription factor 2 promotes sodium butyrate-induced autophagy by inhibiting mTOR in ulcerative colitis.
      Title: Heat-shock transcription factor 2 promotes sodium butyrate-induced autophagy by inhibiting mTOR in ulcerative colitis.
    Submit: New GeneRIF Correction See all GeneRIFs (40)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC75048, MGC117376, MGC156196

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables DNA-binding transcription factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    heat shock factor protein 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_029607.2 RefSeqGene

      Range
      5102..38569
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001135564.1 → NP_001129036.1  heat shock factor protein 2 isoform b

      See identical proteins and their annotated locations for NP_001129036.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame coding exon compared to variant 1. This results in a shorter isoform (b) missing an internal protein segment compared to isoform a. Updated summary and variant texts. [BR]
      Source sequence(s)
      AK225593, BC112323, BC121050, DA741774, Z99129
      Consensus CDS
      CCDS47470.1
      UniProtKB/Swiss-Prot
      Q03933
      Related
      ENSP00000400380.1, ENST00000452194.5
      Conserved Domains (2) summary
      smart00415
      Location:6 → 110
      HSF; heat shock factor
      pfam06546
      Location:230 → 494
      Vert_HS_TF; Vertebrate heat shock transcription factor

    2. NM_001243094.2 → NP_001230023.1  heat shock factor protein 2 isoform c

      See identical proteins and their annotated locations for NP_001230023.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains a different 3' terminal exon compared to variant 1. This results in a frame-shift and a shorter isoform (c) with a distinct C-terminus compared to isoform a.
      Source sequence(s)
      BC064622, DA741774
      UniProtKB/TrEMBL
      Q9BS48
      Conserved Domains (1) summary
      smart00415
      Location:6 → 110
      HSF; heat shock factor

    3. NM_004506.4 → NP_004497.1  heat shock factor protein 2 isoform a

      See identical proteins and their annotated locations for NP_004497.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      BC112323, Z99129
      Consensus CDS
      CCDS5124.1
      UniProtKB/Swiss-Prot
      B4DGJ4, Q03933, Q0VAH9, Q2M1K4, Q9H445
      Related
      ENSP00000357440.4, ENST00000368455.9
      Conserved Domains (2) summary
      smart00415
      Location:6 → 110
      HSF; heat shock factor
      pfam06546
      Location:230 → 512
      Vert_HS_TF; Vertebrate heat shock transcription factor

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      122399551..122433119
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      123587813..123621398
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q03933.1 GenPept UniProtKB/Swiss-Prot:Q03933

    Gene LinkOut

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