HSF4 Chromosome 16
Heat shock transcription factor 4
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What This Gene Does
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]
Associated Conditions (4)
Cataract 5 multiple types
Inborn genetic diseases
HSF4-related disorder
Developmental cataract
Key Variants
RS199773890
Conflicting classifications of pathogenicity
Cataract 5 multiple types, Inborn genetic diseases, Cataract 5 multiple types
Health Risk
RS200708134
Conflicting classifications of pathogenicity
Cataract 5 multiple types, Inborn genetic diseases, HSF4-related disorder
Health Risk
RS367654370
Conflicting classifications of pathogenicity
Cataract 5 multiple types, Inborn genetic diseases, Cataract 5 multiple types
Health Risk
RS373962350
Conflicting classifications of pathogenicity
Cataract 5 multiple types, Inborn genetic diseases, Cataract 5 multiple types
Health Risk
RS760351849
Conflicting classifications of pathogenicity
Cataract 5 multiple types, HSF4-related disorder, Cataract 5 multiple types
Health Risk
RS769736356
Conflicting classifications of pathogenicity
Cataract 5 multiple types, Inborn genetic diseases, Cataract 5 multiple types
Health Risk
RS777720209
Conflicting classifications of pathogenicity
Cataract 5 multiple types, Inborn genetic diseases, Cataract 5 multiple types
Health Risk
RS1456161420
Likely pathogenic
Cataract 5 multiple types, Cataract 5 multiple types
Health Risk
RS1567668570
Likely pathogenic
Cataract 5 multiple types, Cataract 5 multiple types
Health Risk
RS2031121154
Likely pathogenic
HSF4-related disorder, HSF4-related disorder
Health Risk
RS2145919289
Likely pathogenic
Developmental cataract, Developmental cataract
Health Risk
RS531318079
Likely pathogenic
Health Risk
All Variants (23)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS199773890 | Health Risk | Conflicting classifications of pathogenicity | Cataract 5 multiple types, Inborn genetic diseases, Cataract 5 multiple types |
| RS200708134 | Health Risk | Conflicting classifications of pathogenicity | Cataract 5 multiple types, Inborn genetic diseases, HSF4-related disorder |
| RS367654370 | Health Risk | Conflicting classifications of pathogenicity | Cataract 5 multiple types, Inborn genetic diseases, Cataract 5 multiple types |
| RS373962350 | Health Risk | Conflicting classifications of pathogenicity | Cataract 5 multiple types, Inborn genetic diseases, Cataract 5 multiple types |
| RS760351849 | Health Risk | Conflicting classifications of pathogenicity | Cataract 5 multiple types, HSF4-related disorder, Cataract 5 multiple types |
| RS769736356 | Health Risk | Conflicting classifications of pathogenicity | Cataract 5 multiple types, Inborn genetic diseases, Cataract 5 multiple types |
| RS777720209 | Health Risk | Conflicting classifications of pathogenicity | Cataract 5 multiple types, Inborn genetic diseases, Cataract 5 multiple types |
| RS1456161420 | Health Risk | Likely pathogenic | Cataract 5 multiple types, Cataract 5 multiple types |
| RS1567668570 | Health Risk | Likely pathogenic | Cataract 5 multiple types, Cataract 5 multiple types |
| RS2031121154 | Health Risk | Likely pathogenic | HSF4-related disorder, HSF4-related disorder |
| RS2145919289 | Health Risk | Likely pathogenic | Developmental cataract, Developmental cataract |
| RS531318079 | Health Risk | Likely pathogenic | — |
| RS760309963 | Health Risk | Likely pathogenic | HSF4-related disorder, HSF4-related disorder |
| RS121909048 | Health Risk | Pathogenic | Cataract 5 multiple types, Cataract 5 multiple types |
| RS121909049 | Health Risk | Pathogenic | Cataract 5 multiple types, Cataract 5 multiple types |
| RS121909050 | Health Risk | Pathogenic | Cataract 5 multiple types, Cataract 5 multiple types |
| RS1555549755 | Health Risk | Pathogenic | Cataract 5 multiple types, Cataract 5 multiple types |
| RS2145920428 | Health Risk | Pathogenic | Cataract 5 multiple types, Cataract 5 multiple types |
| RS2507002278 | Health Risk | Pathogenic | Cataract 5 multiple types, Cataract 5 multiple types |
| RS2507018497 | Health Risk | Pathogenic | Cataract 5 multiple types, Cataract 5 multiple types |
| RS28937573 | Health Risk | Pathogenic | Cataract 5 multiple types, Cataract 5 multiple types |
| RS770722728 | Health Risk | Pathogenic | Cataract 5 multiple types, HSF4-related disorder, Cataract 5 multiple types |
| RS776129797 | Health Risk | Pathogenic | Cataract 5 multiple types, Cataract 5 multiple types |