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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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HSF2BP
heat shock transcription factor 2 binding protein
Chromosome 21 · 21q22.3
NCBI Gene: 11077Ensembl: ENSG00000160207.10HGNC: HGNC:5226UniProt: O75031
24PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytosolprotein bindingnucleoplasmchromosomepremature ovarian failure 19placenta praevianeurodegenerative diseasehypertension
✦AI Summary

HSF2BP is a meiotic recombination factor essential for double-strand break (DSB) repair and fertility. Primary function: HSF2BP modulates localization of recombinases DMC1 and RAD51 to meiotic DSB sites through interaction with BRCA2 and its binding partner BRME1 123. Mechanism: HSF2BP forms oligomeric complexes with BRCA2 that are regulated by BRME1, controlling recombinase recruitment and BRCA2 turnover during homologous recombination 3. The protein's armadillo repeat domain interacts with a conserved region of BRCA2 between the BRC repeats and DNA-binding domain 14. Disease relevance: HSF2BP mutations cause primary ovarian insufficiency (POI), a major cause of infertility 52. A missense variant (S167L) in HSF2BP reduces fertility through impaired meiotic recombination and decreased RAD51/DMC1 foci formation 2. Clinical significance: HSF2BP is indispensable for male spermatogenesis and female meiosis I progression 1. Beyond reproduction, HSF2BP is implicated in lung adenocarcinoma progression through BNC1/TGF-β/SMAD3 signaling, affecting tumor proliferation and immune evasion 6. Genetic screening for HSF2BP mutations is warranted in POI patients for improved genetic counseling 5.

Sources cited
1
HSF2BP interacts with BRCA2 and is required for male spermatogenesis through homologous recombination function
PMID: 31242413
2
HSF2BP missense variant S167L causes primary ovarian insufficiency by impairing meiotic recombination through interaction with BRME1
PMID: 32845237
3
BRME1 regulates HSF2BP-BRCA2 oligomerization to promote homologous recombination
PMID: 37889963
4
HSF2BP is implicated in nonsyndromic POI and meiosis/DNA repair pathways; genetic screening is recommended
PMID: 34794894
5
BRCA2 binds HSF2BP through a cryptic repeated motif with high affinity, but this interaction is not required for meiotic recombinase localization
PMID: 34326328
6
HSF2BP promotes lung adenocarcinoma progression through BNC1/TGF-β/SMAD3 signaling affecting tumor immunity
PMID: 41083582
7
HSF2BP is a testis-specific protein that interacts with HSF2 and may modulate HSF2 activation
PMID: 9651507
Disease Associationsⓘ21
premature ovarian failure 19Open Targets
0.50Moderate
placenta praeviaOpen Targets
0.26Weak
neurodegenerative diseaseOpen Targets
0.26Weak
hypertensionOpen Targets
0.22Weak
response to xenobiotic stimulusOpen Targets
0.15Weak
Increased blood pressureOpen Targets
0.13Weak
lung adenocarcinomaOpen Targets
0.09Suggestive
azoospermiaOpen Targets
0.09Suggestive
partial chromosome Y deletionOpen Targets
0.09Suggestive
spermatogenic failure 25Open Targets
0.08Suggestive
spermatogenic failure 50Open Targets
0.08Suggestive
spermatogenic failure 57Open Targets
0.08Suggestive
spermatogenic failure, X-linked, 2Open Targets
0.08Suggestive
spermatogenic failure 71Open Targets
0.08Suggestive
spermatogenic failure 48Open Targets
0.08Suggestive
spermatogenic failure 61Open Targets
0.08Suggestive
spermatogenic failure 62Open Targets
0.08Suggestive
spermatogenic failure 88Open Targets
0.08Suggestive
spermatogenic failure 59Open Targets
0.08Suggestive
spermatogenic failure 74Open Targets
0.08Suggestive
Premature ovarian failure 19UniProt
Pathogenic Variants2
NM_007031.2(HSF2BP):c.557T>C (p.Leu186Pro)Likely pathogenic
Premature ovarian failure 19
★☆☆☆2021→ Residue 186
NM_007031.2(HSF2BP):c.382T>C (p.Cys128Arg)Likely pathogenic
Premature ovarian failure 19
★☆☆☆2021→ Residue 128
View on ClinVar ↗
Related Genes
BRCA2Protein interaction95%SPATA22Protein interaction79%BRME1Protein interaction63%FOXJ3Shared pathway40%ZSCAN21Shared pathway40%CCNA1Shared pathway33%
Tissue Expression6 tissues
Brain
100%
Ovary
85%
Bone Marrow
45%
Liver
21%
Heart
17%
Lung
17%
Gene Interaction Network
Click a node to explore
HSF2BPBRCA2SPATA22BRME1FOXJ3ZSCAN21CCNA1
PROTEIN STRUCTURE
Preparing viewer…
PDB8A50 · 1.48 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.26LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.89 [0.64–1.26]
RankingsWhere HSF2BP stands among ~20K protein-coding genes
  • #13,205of 20,598
    Most Researched24
  • #4,536of 5,498
    Most Pathogenic Variants2
  • #13,261of 17,882
    Most Constrained (LOEUF)1.26
Genes detectedHSF2BP
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Genetics of ovarian insufficiency and defects of folliculogenesis.
PMID: 34794894
Best Pract Res Clin Endocrinol Metab · 2022
1.00
2
Exploring the dark genome: implications for precision medicine.
PMID: 31270560
Mamm Genome · 2019
0.90
3
HSF2BP Interacts with a Conserved Domain of BRCA2 and Is Required for Mouse Spermatogenesis.
PMID: 31242413
Cell Rep · 2019
0.80
4
HSF2BP modulates lung adenocarcinoma proliferation and immune microenvironment via BNC1/TGF-β/SMAD3 signaling pathway.
PMID: 41083582
Sci Rep · 2025
0.70
5
A missense in HSF2BP causing primary ovarian insufficiency affects meiotic recombination by its novel interactor C19ORF57/BRME1.
PMID: 32845237
Elife · 2020
0.60