HSF2BP
entrez
11077
canonical
uniprot
O75031
canonical
ensembl
ENSG00000160207
resolver
ensp
ENSP00000291560
resolver
ensp
ENSP00000409585
resolver
ensp
ENSP00000539374
resolver
ensp
ENSP00000753476
resolver
genesymbol
HSF2BP
resolver
genesymbol_syn
MEILB2
resolver
hgnc
HGNC:5226
resolver
uniprot
B4DX36
resolver
uniprot
Q6IAT7
resolver
uniprot_entry
HSF2B_HUMAN
resolver
uniprot_entry
Q6IAT7_HUMAN
resolver
uniprot_sec
B4DX36
resolver
amino_acid_sequence
MGEAGAAEEACRHMGTKEEFVKVRKKDLERLTTEVMQIRDFLPRILNGEVLESFQKLKIVEKNLERKEQELEQLKMDCEHFKARLETVQADNIREKKEKLALRQQLNEAKQQLLQQAEYCTEMGAAACTLLWGVSSSEEVVKAILGGDKALKFFSITGQTMESFVKSLDGDVQELDSDESQFVFALAGIVTNVAAIACGREFLVNSSRVLLDTILQLLGDLKPGQCTKLKVLMLMSLYNVSINLKGLKYISESPGFIPLLWWLLSDPDAEVCLHVLRLVQSVVLEPEVFSKSASEFRSSLPLQRILAMSKSRNPRLQTAAQELLEDLRTLEHNV
uniprot
proteins
disease_involvement
DISEASE: Premature ovarian failure 19 (POF19) [MIM:619245]: 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. {ECO:0000269|PubMed:32845237}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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). {ECO:0000250|UniProtKB:Q9D4G2, ECO:0000269|PubMed:31242413, ECO:0000269|PubMed:9651507}.
uniprot
proteins
mass_dalton
37645
uniprot
proteins
mutagenesis
MUTAGEN 200; /note="R->T: Abolishes interaction with BRCA2."; /evidence="ECO:0000269|PubMed:31242413
uniprot
proteins
post_translational_modification
PTM: Sumoylated by UBE2I in response to MEKK1-mediated stimuli. {ECO:0000269|PubMed:17709345}.
uniprot
proteins
pubmed
10830953
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17709345
uniprot
proteins
pubmed
31242413
uniprot
proteins
pubmed
32845237
uniprot
proteins
pubmed
9651507
uniprot
proteins
sequence_length
334
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q9D4G2}. Chromosome {ECO:0000269|PubMed:31242413}. Note=Localizes on double-strand breaks (DSBs) in mitotic and meiotic chromosomes. {ECO:0000269|PubMed:31242413}.
uniprot
proteins