HSF2BP
Heat Shock Transcription Factor 2 Binding Protein
Gene Information Card
| Symbol | HSF2BP |
|---|---|
| Full Name | Heat Shock Transcription Factor 2 Binding Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 21q22.3 |
| NCBI Gene ID | 11077 ncbi.nlm.nih.gov/gene/11077 |
| Ensembl ID | ENSG00000160224 |
| UniProt ID | O75031 |
| OMIM ID | 604544 |
| HGNC ID | 5229 |
| Aliases | HSF2B, HSF2BP, HSF2BETA |
Description
HSF2BP (Heat Shock Transcription Factor 2 Binding Protein) is a protein-coding gene located on chromosome 21q22.3. It encodes a protein that binds to heat shock transcription factor 2 (HSF2) and modulates its activity, playing a role in the cellular stress response and spermatogenesis. The gene is expressed in multiple tissues, with highest levels in testis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary ovarian insufficiency | HSF2BP mutations may disrupt HSF2 binding, impairing meiotic recombination and oocyte development | OMIM 604544 |
| Azoospermia | Loss of HSF2BP function affects spermatogenesis via altered HSF2 signaling | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Heart | 4.2 | Low |
| Brain | 2.1 | Low |
| Liver | 1.8 | Low |
| Kidney | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 3.2 | Cervical carcinoma |
| K562 | 2.8 | Leukemia |
| HEK293 | 4.0 | Embryonic kidney |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | Rare | Potential loss of function |
| c.202C>T | Nonsense | Rare | Premature truncation |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • spermatogenesis (GO:0007283) | • cellular response to heat (GO:0034605) |
Pathways
• Cellular response to heat stress
• HSF2-mediated signaling
Protein Summary
The HSF2BP protein is a 345-amino acid nuclear protein that interacts with heat shock transcription factor 2 (HSF2). It is involved in regulating HSF2 transcriptional activity during stress and in germ cell development. The protein contains a coiled-coil domain and is highly expressed in testis, where it is essential for meiotic progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| 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 |
| 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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