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

Gene ID: 3298, updated on 5-Mar-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
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Genomic context

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Location:
6q22.31
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (122399551..122433119)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (123587813..123621398)
105.20220307 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
  • 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 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. Tokunaga Y, et al. Int J Mol Sci, 2022 Nov 9. PMID 36430241, Free PMC Article
  2. 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
  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 promotes sodium butyrate-induced autophagy by inhibiting mTOR in ulcerative colitis. Zhang F, et al. Exp Cell Res, 2020 Mar 1. PMID 31923427
  5. Heat-shock factor 2 is a suppressor of prostate cancer invasion. Björk JK, et al. Oncogene, 2016 Apr 7. PMID 26119944, Free PMC Article

See all (77) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder.
    Title: CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. Silencing ALG3 or HSF2 inhibited the proliferation, migration, and invasion abilities of MCF-7 cells.
    Title: ALG3 Is Activated by Heat Shock Factor 2 and Promotes Breast Cancer Growth.
Submit: New GeneRIF Correction See all GeneRIFs (39)

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
part_of 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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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_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_2023_10

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

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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