HSF2BP
Function
Meiotic recombination factor component of recombination bridges involved in meiotic double-strand break repair. Modulates the localization of recombinases DMC1:RAD51 to meiotic double-strand break (DSB) sites through the interaction with BRCA2 and its recruitment during meiotic recombination (By similarity) (PubMed:31242413). Indispensable for the DSB repair, homologous synapsis, and crossover formation that are needed for progression past metaphase I, is essential for spermatogenesis and male fertility (By similarity). Required for proper recombinase recruitment in female meiosis (By similarity). Inhibits BNC1 transcriptional activity during spermatogenesis, probably by sequestering it in the cytoplasm (By similarity). May be involved in modulating HSF2 activation in testis (PubMed:9651507).
Involvement in disease
Premature ovarian failure 19
POF19
A form of premature ovarian failure, an ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. POF19 is an autosomal recessive form characterized by irregular menstrual cycles and cessation of menstruation in the third decade of life.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Sumoylated by UBE2I in response to MEKK1-mediated stimuli.
Tissue Specificity
Testis specific. Overexpressed in some tumors (PubMed:31242413).
Cellular localization
- Cytoplasm
- Chromosome
- Localizes on double-strand breaks (DSBs) in mitotic and meiotic chromosomes.
Alternative names
MEILB2, HSF2BP, Heat shock factor 2-binding protein