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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
HSF4
heat shock transcription factor 4
Chromosome 16 Β· 16q22.1
NCBI Gene: 3299Ensembl: ENSG00000102878.19HGNC: HGNC:5227UniProt: Q9ULV5
56PubMed Papers
21Diseases
0Drugs
21Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
DNA-binding transcription factor activity, RNA polymerase II-specificnuclear specksequence-specific double-stranded DNA bindingnegative regulation of transcription by RNA polymerase IIcataract 5 multiple typesearly-onset zonular cataractneurodegenerative diseaseTotal congenital cataract
✦AI Summary

HSF4 (heat shock transcription factor 4) is a transcriptional activator that plays crucial roles in lens development and cellular stress responses 1. The protein functions as a DNA-binding transcription factor that activates expression of crystallin genes and beaded filament structural proteins essential for lens fiber cell differentiation 1. HSF4 binds to various genomic regions including introns and distal parts of protein-coding genes, often co-occupying sites with HSF1 and HSF2 2. The protein regulates gene expression during lens development when HSF1 and HSF2 expression decreases, and induces demethylated status of histone H3K9 on binding regions 2. Unexpectedly, HSF4 is required for induction of non-classic heat shock genes in response to heat stress, facilitating HSF1 binding through chr16 modification 2. Mutations in HSF4 are associated with congenital and age-related cataracts, with missense mutations causing loss of DNA-binding activity and subsequent loss of lens protein gene expression 13. HSF4 deficiency increases secretion of small extracellular vesicles through upregulation of chaperone-mediated autophagy, potentially contributing to cataract development 4. Beyond ocular function, HSF4 has been implicated in colorectal cancer progression and prostate cancer therapy resistance 56.

Sources cited
1
HSF4 is a transcriptional activator that activates crystallin and beaded filament protein genes in lens cells, with mutations causing loss of DNA-binding and cataractogenesis
PMID: 20670914
2
HSF4 binds to various genomic regions, regulates gene expression during lens development, and is required for non-classic heat shock gene induction
PMID: 18755693
3
HSF4 mutations are associated with congenital cataracts and other ocular developmental defects
PMID: 29314435
4
HSF4 deficiency increases small extracellular vesicle secretion via chaperone-mediated autophagy upregulation
PMID: 40211689
5
HSF4 promotes colorectal cancer progression through regulation of EMT-related signaling pathways
PMID: 39881364
6
HSF4 is identified as a driver of androgen receptor-targeted therapy resistance in prostate cancer
PMID: 37478850
Disease Associationsβ“˜21
cataract 5 multiple typesOpen Targets
0.80Strong
early-onset zonular cataractOpen Targets
0.58Moderate
neurodegenerative diseaseOpen Targets
0.46Moderate
Total congenital cataractOpen Targets
0.40Weak
total early-onset cataractOpen Targets
0.37Weak
early-onset non-syndromic cataractOpen Targets
0.29Weak
Developmental cataractOpen Targets
0.27Weak
genetic disorderOpen Targets
0.19Weak
cataractOpen Targets
0.17Weak
Partial congenital cataractOpen Targets
0.11Weak
Cataract-microcornea syndromeOpen Targets
0.11Weak
early-onset nuclear cataractOpen Targets
0.11Weak
isolated ectopia lentisOpen Targets
0.11Weak
hereditary hyperferritinemia with congenital cataractsOpen Targets
0.11Weak
pulverulent cataractOpen Targets
0.11Weak
cataract 35Open Targets
0.11Weak
cataract 13 with adult I phenotypeOpen Targets
0.10Weak
cataract 38Open Targets
0.10Weak
muscular diseaseOpen Targets
0.10Suggestive
neoplasmOpen Targets
0.10Suggestive
Cataract 5, multiple typesUniProt
Pathogenic Variants21
NM_001374675.1(HSF4):c.965dup (p.Pro323fs)Pathogenic
Cataract 5 multiple types
β˜…β˜…β˜†β˜†2025β†’ Residue 323
NM_001374675.1(HSF4):c.117_123+3delLikely pathogenic
Cataract 5 multiple types
β˜…β˜†β˜†β˜†2025
NM_001374675.1(HSF4):c.536dup (p.Gln180fs)Pathogenic
Cataract 5 multiple types
β˜…β˜†β˜†β˜†2024β†’ Residue 180
NM_001374675.1(HSF4):c.1273dup (p.Glu425fs)Pathogenic
Cataract 5 multiple types
β˜…β˜†β˜†β˜†2023β†’ Residue 425
NM_001374675.1(HSF4):c.1213C>T (p.Arg405Ter)Pathogenic
Cataract 5 multiple types
β˜…β˜†β˜†β˜†2023β†’ Residue 405
NM_001374675.1(HSF4):c.7G>T (p.Glu3Ter)Likely pathogenic
HSF4-related disorder
β˜…β˜†β˜†β˜†2022β†’ Residue 3
NM_001374675.1(HSF4):c.568C>T (p.Gln190Ter)Pathogenic
Cataract 5 multiple types|HSF4-related disorder
β˜…β˜†β˜†β˜†2022β†’ Residue 190
NM_001374675.1(HSF4):c.627-2A>GPathogenic
Cataract 5 multiple types
β˜…β˜†β˜†β˜†2022
NM_001374675.1(HSF4):c.69G>T (p.Lys23Asn)Pathogenic
Cataract 5 multiple types
β˜…β˜†β˜†β˜†2022β†’ Residue 23
NM_001374675.1(HSF4):c.1254+1G>TLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2022
NM_001374675.1(HSF4):c.392G>A (p.Trp131Ter)Pathogenic
Cataract 5 multiple types
β˜…β˜†β˜†β˜†2022β†’ Residue 131
NM_001374675.1(HSF4):c.1255-2A>GLikely pathogenic
Cataract 5 multiple types
β˜…β˜†β˜†β˜†2020
NM_001374675.1(HSF4):c.352C>T (p.Arg118Trp)Likely pathogenic
Cataract 5 multiple types
β˜…β˜†β˜†β˜†2020β†’ Residue 118
NM_001374675.1(HSF4):c.89del (p.Asp30fs)Pathogenic
Cataract 5 multiple types
β˜…β˜†β˜†β˜†2017β†’ Residue 30
NM_001374675.1(HSF4):c.897del (p.Asp302fs)Likely pathogenic
Cataract 5 multiple types
β˜…β˜†β˜†β˜†β†’ Residue 302
NM_001374675.1(HSF4):c.904del (p.Asp302fs)Likely pathogenic
HSF4-related disorder
β˜†β˜†β˜†β˜†2024β†’ Residue 302
NM_001374675.1(HSF4):c.190A>G (p.Lys64Glu)Likely pathogenic
Developmental cataract
β˜†β˜†β˜†β˜†2021β†’ Residue 64
NM_001374675.1(HSF4):c.341T>C (p.Leu114Pro)Pathogenic
Cataract 5 multiple types
β˜†β˜†β˜†β˜†2002β†’ Residue 114
NM_001374675.1(HSF4):c.355C>T (p.Arg119Cys)Pathogenic
Cataract 5 multiple types
β˜†β˜†β˜†β˜†2002β†’ Residue 119
NM_001374675.1(HSF4):c.56C>A (p.Ala19Asp)Pathogenic
Cataract 5 multiple types
β˜†β˜†β˜†β˜†2002β†’ Residue 19
View on ClinVar β†—
Related Genes
NTMProtein interaction87%CRYGSProtein interaction85%GPA33Protein interaction82%HSF2Protein interaction81%LIM2Protein interaction78%BFSP2Protein interaction77%
Tissue Expression6 tissues
Ovary
100%
Liver
72%
Heart
41%
Lung
39%
Bone Marrow
10%
Brain
7%
Gene Interaction Network
Click a node to explore
HSF4NTMCRYGSGPA33HSF2LIM2BFSP2
PROTEIN STRUCTURE
Preparing viewer…
PDB6J6V Β· 1.20 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.11LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.86 [0.67–1.11]
RankingsWhere HSF4 stands among ~20K protein-coding genes
  • #8,083of 20,598
    Most Researched56
  • #2,152of 5,498
    Most Pathogenic Variants21
  • #11,392of 17,882
    Most Constrained (LOEUF)1.11
Genes detectedHSF4
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Extracellular matrix stiffness regulates colorectal cancer progression via HSF4.
PMID: 39881364
J Exp Clin Cancer Res Β· 2025
1.00
2
Loss of SYNCRIP unleashes APOBEC-driven mutagenesis, tumor heterogeneity, and AR-targeted therapy resistance in prostate cancer.
PMID: 37478850
Cancer Cell Β· 2023
0.90
3
Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects.
PMID: 29314435
Hum Mutat Β· 2018
0.80
4
Analysis of HSF4 binding regions reveals its necessity for gene regulation during development and heat shock response in mouse lenses.
PMID: 18755693
J Biol Chem Β· 2008
0.70
5
Lens Development and Crystallin Gene Expression.
PMID: 26310154
Prog Mol Biol Transl Sci Β· 2015
0.60