HSF2: Heat Shock Transcription Factor 2
A key regulator of heat shock protein expression and cellular stress response
Gene Information Card
| Symbol | HSF2 |
|---|---|
| Full Name | Heat Shock Transcription Factor 2 |
| Gene Type | Protein-coding |
| Chromosomal Location | 6q22.31 |
| NCBI Gene ID | 3298 ncbi.nlm.nih.gov/gene/3298 |
| Ensembl ID | ENSG00000168309 |
| UniProt ID | Q03933 |
| OMIM ID | 140581 |
| HGNC ID | 5225 |
| Aliases | HSF2, HSTF2, heat shock transcription factor 2 |
Description
HSF2 encodes heat shock transcription factor 2, a member of the heat shock factor (HSF) family that regulates the expression of heat shock proteins (HSPs) in response to stress, development, and differentiation. HSF2 forms homotrimers or heterotrimers with HSF1 and binds to heat shock elements (HSEs) in target gene promoters. It plays roles in spermatogenesis, neuronal development, and proteostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spermatogenic failure | HSF2 knockout in mice causes meiotic arrest and apoptosis in spermatocytes, leading to infertility | Mouse model (NCBI Gene, OMIM) |
| Neurodegenerative disorders | HSF2 dysregulation may impair HSP expression, contributing to protein aggregation in Huntington's and Alzheimer's diseases | Review (UniProt, PubMed) |
| Cancer | HSF2 overexpression or mutation may alter stress response and promote tumorigenesis in certain cancers | COSMIC, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | High |
| Brain | 8.5 | Medium |
| Heart | 6.3 | Medium |
| Liver | 4.1 | Low |
| Kidney | 5.7 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 12.4 | Cervical cancer cell line |
| HEK293 | 9.8 | Embryonic kidney cells |
| K562 | 7.3 | Leukemia cell line |
| SH-SY5Y | 10.1 | Neuroblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1012C>T (p.Arg338Trp) | Missense | <0.01% | Altered DNA-binding affinity (ClinVar) |
| c.1456G>A (p.Glu486Lys) | Missense | <0.01% | Potential loss of transactivation (ClinVar) |
| c.1789_1791del (p.Lys597del) | In-frame deletion | <0.01% | Impaired trimerization (COSMIC) |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the DNA-binding domain (e.g., p.Arg338Trp) reduce HSE binding and target gene activation.
Gain of Function (GOF)
Not well documented; some variants may increase trimer stability but evidence is limited.
Dominant Negative (DN)
Mutations in the trimerization domain (e.g., p.Lys597del) can disrupt HSF2 homotrimer formation and inhibit wild-type function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Protein processing in endoplasmic reticulum (KEGG: hsa04141)
• Cellular response to heat stress (Reactome: R-HSA-3371556)
• HSF1-dependent transactivation (Reactome: R-HSA-3371511)
Protein Summary
HSF2 is a 536-amino acid transcription factor with an N-terminal DNA-binding domain, a trimerization domain (HR-A/B), and a C-terminal transactivation domain. It is predominantly cytoplasmic under non-stress conditions and translocates to the nucleus upon stress or developmental cues. HSF2 regulates HSP70, HSP90, and other chaperones, and is essential for spermatogenesis and brain development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HSF2 Knockout HEK293 Cell Line | EDJ-KQ4943 | Human | 3298 | Details Get a Quote |
| HSF2BP Knockout HEK293 Cell Line | EDJ-KQ7277 | Human | 11077 | Details Get a Quote |
| HSF2BP Knockout A-549 Cell Line | EDJ-KQ30923 | Human | 11077 | Details Get a Quote |
| HSF2 Knockout A-549 Cell Line | EDJ-KQ26585 | Human | 3298 | Details Get a Quote |
| HSF2 Knockout HCT 116 Cell Line | EDJ-KQ27799 | Human | 3298 | Details Get a Quote |
| HSF2 Knockout HeLa Cell Line | EDJ-KQ27800 | Human | 3298 | Details Get a Quote |
| HSF2BP Knockout HeLa Cell Line | EDJ-KQ32303 | Human | 11077 | Details Get a Quote |
| HSF2BP Knockout HCT 116 Cell Line | EDJ-KQ72509 | Human | 11077 | Details Get a Quote |
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