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Aliases for HSF4 Gene

Aliases for HSF4 Gene

  • Heat Shock Transcription Factor 4 2 3 4 5
  • HSTF 4 3 4
  • HSF 4 3 4
  • HHSF4 3 4
  • Heat Shock Factor Protein 4 3
  • Cataract, Marner 2
  • CTRCT5 3
  • CTM 3

External Ids for HSF4 Gene

Previous HGNC Symbols for HSF4 Gene

  • CTM

Previous GeneCards Identifiers for HSF4 Gene

  • GC16P057891
  • GC16P067576
  • GC16P066932
  • GC16P066974
  • GC16P065756
  • GC16P053070

Summaries for HSF4 Gene

Entrez Gene Summary for HSF4 Gene

  • Heat-shock transcription factors (HSFs) activate heat-shock response genes under conditions of heat or other stresses. HSF4 lacks the carboxyl-terminal hydrophobic repeat which is shared among all vertebrate HSFs and has been suggested to be involved in the negative regulation of DNA binding activity. Two alternatively spliced transcripts encoding distinct isoforms and possessing different transcriptional activity have been described. [provided by RefSeq, Jul 2008]

GeneCards Summary for HSF4 Gene

HSF4 (Heat Shock Transcription Factor 4) is a Protein Coding gene. Diseases associated with HSF4 include Cataract 5, Multiple Types and Cataract 44. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and transcription corepressor activity. An important paralog of this gene is HSF1.

UniProtKB/Swiss-Prot for HSF4 Gene

  • DNA-binding protein that specifically binds heat shock promoter elements (HSE). Isoform HSF4A represses transcription while the isoform HSF4B activates transcription.

Gene Wiki entry for HSF4 Gene

Additional gene information for HSF4 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HSF4 Gene

Genomics for HSF4 Gene

Regulatory Elements for HSF4 Gene

Enhancers for HSF4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16H066899 1.6 Ensembl ENCODE dbSUPER 11 -262.7 -262658 3.4 HDGF FOXA2 ARNT ZNF766 REST ZNF592 KAT8 MEF2D SSRP1 ZNF610 CES2 CTCF E2F4 FBXL8 TRADD ZDHHC1 ENSG00000260465 RRAD FAM96B ENKD1
GH16H066378 1.7 FANTOM5 Ensembl ENCODE dbSUPER 9.8 -782.0 -781962 6.4 ATF1 INSM2 YBX1 PLRG1 ZBTB40 RFX5 ZNF155 ZNF366 RCOR1 FOS LINC00920 NAE1 KIAA0895L E2F4 ENSG00000260465 HSF4 CDH5 GC16P066378
GH16H066357 1.7 FANTOM5 Ensembl ENCODE dbSUPER 9.8 -799.7 -799698 12.6 RAD21 ZNF121 ZNF23 ZNF143 FOS ATF7 MIXL1 EGR2 ZNF654 NR2F2 KIAA0895L NAE1 CDH5 LINC00920 HSF4 LRRC36 PIR36503 RNA5SP428
GH16H066977 1.5 Ensembl ENCODE dbSUPER 11.1 -185.6 -185585 0.4 HDGF ARID4B SIN3A ZNF2 SLC30A9 GLIS2 ZNF143 RUNX3 DEK SP5 CES2 ELMO3 CBFB B3GNT9 FBXL8 TRADD HSF4 C16orf70 RRAD CDH16
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HSF4 on UCSC Golden Path with GeneCards custom track

Genomic Locations for HSF4 Gene

Genomic Locations for HSF4 Gene
6,561 bases
Plus strand

Genomic View for HSF4 Gene

Genes around HSF4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HSF4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HSF4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HSF4 Gene

Proteins for HSF4 Gene

  • Protein details for HSF4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Heat shock factor protein 4
    Protein Accession:
    Secondary Accessions:
    • Q99472
    • Q9ULV6

    Protein attributes for HSF4 Gene

    492 amino acids
    Molecular mass:
    53011 Da
    Quaternary structure:
    • Homotrimer. Exhibits constitutive DNA binding and forms trimers even in the absence of stress. Interacts with ALKBH4, DUSP26, MAPK1, MAPK2 and MAP kinase p38.

    Alternative splice isoforms for HSF4 Gene


neXtProt entry for HSF4 Gene

Post-translational modifications for HSF4 Gene

  • Isoform HSF4B is constitutively sumoylated. Sumoylation represses the transcriptional activity and is promoted by phosphorylation on Ser-298. HSFA is not sumoylated.
  • Phosphorylated mainly on serine residues. Phosphorylation on Ser-298 promotes sumoylation on Lys-293.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for HSF4 Gene

Domains & Families for HSF4 Gene

Gene Families for HSF4 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Transcription factors

Suggested Antigen Peptide Sequences for HSF4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the HSF family.
  • Belongs to the HSF family.
genes like me logo Genes that share domains with HSF4: view

Function for HSF4 Gene

Molecular function for HSF4 Gene

GENATLAS Biochemistry:
heat shock transcription factor 4,preferentially expressed in heart,brain,skeletal muscle,pancreas,potential repressor of genes for HS proteins and molecular chaperones with two alternatively spliced isoform HSF4a,HSF4b,the former acting as an inhibitor,the latter as an activator of tissue specific heat shock gene expression
UniProtKB/Swiss-Prot Function:
DNA-binding protein that specifically binds heat shock promoter elements (HSE). Isoform HSF4A represses transcription while the isoform HSF4B activates transcription.

Gene Ontology (GO) - Molecular Function for HSF4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding IEA --
GO:0003714 transcription corepressor activity TAS 8972228
GO:0043565 sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with HSF4: view
genes like me logo Genes that share phenotypes with HSF4: view

Human Phenotype Ontology for HSF4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HSF4 Gene

MGI Knock Outs for HSF4:

miRNA for HSF4 Gene

miRTarBase miRNAs that target HSF4

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for HSF4 Gene

Localization for HSF4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HSF4 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HSF4 gene
Compartment Confidence
nucleus 5
cytosol 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HSF4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0016607 nuclear speck IDA --
genes like me logo Genes that share ontologies with HSF4: view

Pathways & Interactions for HSF4 Gene

No Data Available

Interacting Proteins for HSF4 Gene

Gene Ontology (GO) - Biological Process for HSF4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0001654 eye development IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated TAS,IEA 8972228
GO:0006357 regulation of transcription from RNA polymerase II promoter IEA --
genes like me logo Genes that share ontologies with HSF4: view

No data available for Pathways by source and SIGNOR curated interactions for HSF4 Gene

Drugs & Compounds for HSF4 Gene

No Compound Related Data Available

Transcripts for HSF4 Gene

Unigene Clusters for HSF4 Gene

Heat shock transcription factor 4:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for HSF4 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b · 12c ^ 13a · 13b · 13c
SP1: - - - -
SP2: - - - -
SP3: - - -
SP7: -

Relevant External Links for HSF4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for HSF4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HSF4 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for HSF4 Gene

NURSA nuclear receptor signaling pathways regulating expression of HSF4 Gene:


SOURCE GeneReport for Unigene cluster for HSF4 Gene:


mRNA Expression by UniProt/SwissProt for HSF4 Gene:

Tissue specificity: Expressed in heart, skeletal muscle, eye and brain, and at much lower levels in some other tissues.

Evidence on tissue expression from TISSUES for HSF4 Gene

  • Heart(4.4)
  • Nervous system(3.5)
  • Kidney(3.2)
  • Gall bladder(2.3)
  • Skin(2.3)
  • Blood(2.1)
  • Lung(2)
  • Muscle(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HSF4 Gene

Germ Layers:
  • ectoderm
  • nervous
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
  • peripheral nervous system
genes like me logo Genes that share expression patterns with HSF4: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues and Protein tissue co-expression partners for HSF4 Gene

Orthologs for HSF4 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for HSF4 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia HSF4 33 34
  • 99.46 (n)
(Canis familiaris)
Mammalia HSF4 33 34
  • 91.45 (n)
(Bos Taurus)
Mammalia HSF4 33 34
  • 89.71 (n)
(Mus musculus)
Mammalia Hsf4 33 16 34
  • 86.19 (n)
(Monodelphis domestica)
Mammalia HSF4 34
  • 49 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 49 (a)
-- 34
  • 27 (a)
(Gallus gallus)
Aves HSF4 34
  • 44 (a)
(Anolis carolinensis)
Reptilia HSF4 34
  • 55 (a)
(Danio rerio)
Actinopterygii hsf4 34
  • 46 (a)
fruit fly
(Drosophila melanogaster)
Insecta Hsf 35 34
  • 47 (a)
(Caenorhabditis elegans)
Secernentea Y53C10A.12 35
  • 40 (a)
hsf-1 34
  • 18 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HSF1 34
  • 12 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 24 (a)
Species where no ortholog for HSF4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for HSF4 Gene

Gene Tree for HSF4 (if available)
Gene Tree for HSF4 (if available)

Paralogs for HSF4 Gene

Paralogs for HSF4 Gene

genes like me logo Genes that share paralogs with HSF4: view

Variants for HSF4 Gene

Sequence variations from dbSNP and Humsavar for HSF4 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs121909048 Pathogenic, Cataract 5, multiple types (CTRCT5) [MIM:116800] 67,165,827(+) GCTAC(C/T)GGAGC reference, missense
rs121909049 Pathogenic, Cataract 5, multiple types (CTRCT5) [MIM:116800] 67,164,867(+) GCCTG(A/C)CTTCC reference, missense
rs121909050 Pathogenic, Cataract 5, multiple types (CTRCT5) [MIM:116800] 67,165,742(+) TGAGC(A/G)TCGAG reference, missense
rs28937573 Pathogenic, Cataract 5, multiple types (CTRCT5) [MIM:116800] 67,165,841(+) TGCGG(C/T)GCAAG reference, missense
VAR_029018 Cataract 5, multiple types (CTRCT5) [MIM:116800]

Structural Variations from Database of Genomic Variants (DGV) for HSF4 Gene

Variant ID Type Subtype PubMed ID
nsv952044 CNV deletion 24416366
nsv827707 CNV loss 20364138
nsv524363 CNV loss 19592680
nsv522852 CNV gain 19592680
nsv1160429 CNV deletion 26073780

Variation tolerance for HSF4 Gene

Residual Variation Intolerance Score: 48.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.03; 21.05% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HSF4 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HSF4 Gene

Disorders for HSF4 Gene

MalaCards: The human disease database

(26) MalaCards diseases for HSF4 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cataract 5, multiple types
  • cataract 5 multiple types
cataract 44
  • ctrct44
cataract 16, multiple types
  • cataract 16 multiple types
acute tympanitis
  • acute myringitis
- elite association - COSMIC cancer census association via MalaCards
Search HSF4 in MalaCards View complete list of genes associated with diseases


  • Cataract 5, multiple types (CTRCT5) [MIM:116800]: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT5 includes infantile, lamellar, zonular, nuclear, anterior polar, stellate, and Marner-type cataracts, among others. Finger malformation is observed in some kindreds. {ECO:0000269 PubMed:12089525, ECO:0000269 PubMed:16876512}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for HSF4

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with HSF4: view

No data available for Genatlas for HSF4 Gene

Publications for HSF4 Gene

  1. The mammalian HSF4 gene generates both an activator and a repressor of heat shock genes by alternative splicing. (PMID: 10488131) Tanabe M … Nakai A (The Journal of biological chemistry 1999) 2 3 4 22 60
  2. HSF4, a new member of the human heat shock factor family which lacks properties of a transcriptional activator. (PMID: 8972228) Nakai A … Nagata K (Molecular and cellular biology 1997) 2 3 4 22 60
  3. Novel HSF4 mutation causes congenital total white cataract in a Chinese family. (PMID: 16876512) Ke T … Liu M (American journal of ophthalmology 2006) 3 4 22 60
  4. Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract. (PMID: 12089525) Bu L … Kong X (Nature genetics 2002) 2 3 4 60
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 45 60

Products for HSF4 Gene

Sources for HSF4 Gene

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