{ "uniprot_canonical_ac": "O75031-1", "uniprot_ac": "O75031", "uniprot_id": "HSF2B_HUMAN", "mass": { "chemical_mass": 37645.0, "monoisotopic_mass": 37645.0 }, "refseq": { "ac": "NP_008962", "name": "heat shock factor 2-binding protein", "summary": "HSF2 binding protein (HSF2BP) associates with HSF2. The interaction occurs between the trimerization domain of HSF2 and the amino terminal hydrophilic region of HSF2BP that comprises two leucine zipper motifs. HSF2BP may therefore be involved in modulating HSF2 activation. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008962" }, "gene_names": [ { "name": "HSF2BP", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75031", "id": "O75031" }, { "name": "HSF2BP", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008962", "id": "NP_008962" }, { "name": "MEILB2; POF19", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008962", "id": "NP_008962" }, { "name": "MEILB2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75031", "id": "O75031" } ], "protein_names": [ { "name": "Heat shock factor 2-binding protein", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75031" }, { "name": "heat shock factor 2-binding protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008962", "id": "NP_008962" }, { "name": "meiotic localizer of BRCA2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008962", "id": "NP_008962" } ], "function": [ { "annotation": "BRCA2 binding through a cryptic repeated motif to HSF2BP oligomers does not impact meiotic recombination. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_008962", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008962" }, { "database": "PubMed", "id": "34326328", "url": "https://glygen.org/publication/PubMed/34326328" } ] }, { "annotation": "HSF2 binding protein (HSF2BP) associates with HSF2. The interaction occurs between the trimerization domain of HSF2 and the amino terminal hydrophilic region of HSF2BP that comprises two leucine zipper motifs. HSF2BP may therefore be involved in modulating HSF2 activation. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_008962", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008962" } ] }, { "annotation": "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).", "evidence": [ { "database": "UniProtKB", "id": "O75031", "url": "https://www.uniprot.org/uniprot/O75031#function" }, { "database": "UniProtKB", "id": "Q9D4G2", "url": "https://www.uniprot.org/uniprot/Q9D4G2#function" }, { "database": "PubMed", "id": "9651507", "url": "https://glygen.org/publication/PubMed/9651507" }, { "database": "PubMed", "id": "31242413", "url": "https://glygen.org/publication/PubMed/31242413" } ] }, { "annotation": "Naturally occurring elevated production of HSF2BP in tumors may be a source of cancer-promoting genomic instability and also a targetable vulnerability.", "evidence": [ { "database": "RefSeq", "id": "NP_008962", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008962" }, { "database": "PubMed", "id": "31960047", "url": "https://glygen.org/publication/PubMed/31960047" } ] }, { "annotation": "Structure of a meiosis-specific complex central to BRCA2 localization at recombination sites.", "evidence": [ { "database": "RefSeq", "id": "NP_008962", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008962" }, { "database": "PubMed", "id": "34373645", "url": "https://glygen.org/publication/PubMed/34373645" } ] } ], "disease": [ { "disease_id": "DOID:0112278", "recommended_name": { "id": "DOID:0112278", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112278", "name": "primary ovarian insufficiency 19", "description": "A primary ovarian insufficiency characterized by irregular menses that cease in the third decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the HSF2BP gene on chromosome 21q22." }, "synonyms": [ { "id": "DOID:0112278", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112278", "name": "POF19", "description": "" }, { "id": "DOID:0112278", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112278", "name": "POI19", "description": "" }, { "id": "DOID:0112278", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112278", "name": "premature ovarian failure 19", "description": "" }, { "id": "MONDO:0030985", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030985", "name": "premature ovarian failure 19", "description": "" }, { "id": "MONDO:0030985", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030985", "name": "POF19", "description": "" }, { "id": "MONDO:0030985", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030985", "name": "premature ovarian failure 19", "description": "" }, { "id": "MIM:619245", "resource": "MIM", "url": "https://www.omim.org/entry/619245", "name": "Premature ovarian failure 19", "description": "Premature ovarian failure 19" } ], "evidence": [ { "id": "619245", "database": "MIM", "url": "https://www.omim.org/entry/619245" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 200, "end_pos": 200, "sequence_org": "R", "sequence_mut": "T", "comment": "Abolishes interaction with BRCA2.", "evidence": [ { "database": "UniProtKB", "id": "O75031", "url": "https://www.uniprot.org/uniprot/O75031" }, { "database": "PubMed", "id": "31242413", "url": "https://glygen.org/publication/PubMed/31242413" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "42.8", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000160207", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160207" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "52.85", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000160207", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160207" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "53.23", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000160207", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160207" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "54.75", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000160207", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160207" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "56.55", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000160207", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160207" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "58.4", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000160207", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160207" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "52.22", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000160207", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160207" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "54.22", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000160207", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160207" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "57.76", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000160207", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160207" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O75031", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75031" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, 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"DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", 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"MGEAGAAEEACRHMGTKEEFVKVRKKDLERLTTEVMQIRDFLPRILNGEVLESFQKLKIVEKNLERKEQELEQLKMDCEHFKARLETVQADNIREKKEKLALRQQLNEAKQQLLQQAEYCTEMGAAACTLLWGVSSSEEVVKAILGGDKALKFFSITGQTMESFVKSLDGDVQELDSDESQFVFALAGIVTNVAAIACGREFLVNSSRVLLDTILQLLGDLKPGQCTKLKVLMLMSLYNVSINLKGLKYISESPGFIPLLWWLLSDPDAEVCLHVLRLVQSVVLEPEVFSKSASEFRSSLPLQRILAMSKSRNPRLQTAAQELLEDLRTLEHNV", "length": 334, "header": "sp|O75031-1|HSF2B_HUMAN Isoform 1 of Heat shock factor 2-binding protein OS=Homo sapiens OX=9606 GN=HSF2BP PE=1 SV=1 CANONICAL=O75031-1" }, "locus": { "chromosome": "21", "start_pos": 43658096, "end_pos": 43529757, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000291560.7", "url": "https://www.ensembl.org/id/ENST00000291560.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000291560.2", "url": "https://www.ensembl.org/id/ENSP00000291560.2" } ] } }, { "isoform_ac": "O75031-2", "url": "", "sequence": { "sequence": "MDCEHFKARLETVQADNIREKKEKLALRQQLNEAKQQLLQQAEYCTEMGAAACTLLWGVSSSEEVVKAILGGDKALKFFSITGQTMESFVKSLDGDVQELDSDESQFVFALAGIVTNVAAIACGREFLVNSSRVLLDTILQLLGDLKPGQCTKLKVLMLMSLYNVSINLKGLKYISESPGFIPLLWWLLSDPDAEVCLHVLRLVQSVVLEPEVFSKSASEFRSSLPLQRILAMSKSRNPRLQTAAQELLEDLRTLEHNV", "length": 259, "header": "sp|O75031-2|HSF2B_HUMAN Isoform 2 of Heat shock factor 2-binding protein OS=Homo sapiens OX=9606 GN=HSF2BP PE=1 SV=1 CANONICAL=O75031-1" }, "locus": {} } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "Ubc9 fusion-directed SUMOylation identifies constitutive and inducible SUMOylation.", "journal": "Nucleic acids research", "date": "2007", "authors": "Jakobs A, Himstedt F, Funk M, Korn B, Gaestel M, Niedenthal R", "evidence": [ { "database": "UniProtKB", "id": "O75031", "url": "https://www.uniprot.org/uniprot/O75031" } ], "reference": [ { "type": "PubMed", "id": "17709345", "url": "https://glygen.org/publication/PubMed/17709345" } ] }, { "title": "HSF2BP Interacts with a Conserved Domain of BRCA2 and Is Required for Mouse Spermatogenesis.", "journal": "Cell reports", "date": "2019", "authors": "Brandsma I, Sato K, van Rossum-Fikkert SE, van Vliet N, Sleddens E, Reuter M, Odijk H, van den Tempel N, Dekkers DHW, Bezstarosti K, Demmers JAA, Maas A, Lebbink J, Wyman C, Essers J, van Gent DC, Baarends WM, Knipscheer P, Kanaar R, Zelensky AN", "evidence": [ { "database": "UniProtKB", "id": "O75031", "url": "https://www.uniprot.org/uniprot/O75031" } ], "reference": [ { "type": "PubMed", "id": "31242413", "url": "https://glygen.org/publication/PubMed/31242413" } ] }, { "title": "HSF2BP negatively regulates homologous recombination in DNA interstrand crosslink repair.", "journal": "Nucleic acids research", "date": "2020", "authors": "Sato K, Brandsma I, van Rossum-Fikkert SE, Verkaik N, Oostra AB, Dorsman JC, van Gent DC, Knipscheer P, Kanaar R, Zelensky AN", "evidence": [ { "database": "RefSeq", "id": "NP_008962", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008962" } ], "reference": [ { "type": "PubMed", "id": "31960047", "url": "https://glygen.org/publication/PubMed/31960047" } ] }, { "title": "A missense in HSF2BP causing primary ovarian insufficiency affects meiotic recombination by its novel interactor C19ORF57/BRME1.", "journal": "eLife", "date": "2020", "authors": "Felipe-Medina N, Caburet S, Sanchez-Saez F, Condezo YB, de Rooij DG, Gomez-H L, Garcia-Valiente R, Todeschini AL, Duque P, Sanchez-Martin MA, Shalev SA, Llano E, Veitia RA, Pendas AM", "evidence": [ { "database": "UniProtKB", "id": "O75031", "url": "https://www.uniprot.org/uniprot/O75031" } ], "reference": [ { "type": "PubMed", "id": "32845237", "url": "https://glygen.org/publication/PubMed/32845237" } ] }, { "title": "BRCA2 binding through a cryptic repeated motif to HSF2BP oligomers does not impact meiotic recombination.", "journal": "Nature communications", "date": "2021", "authors": "Ghouil R, Miron S, Koornneef L, Veerman J, Paul MW, Le Du MH, Sleddens-Linkels E, van Rossum-Fikkert SE, van Loon Y, Felipe-Medina N, Pendas AM, Maas A, Essers J, Legrand P, Baarends WM, Kanaar R, Zinn-Justin S, Zelensky AN", "evidence": [ { "database": "RefSeq", "id": "NP_008962", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008962" } ], "reference": [ { "type": "PubMed", "id": "34326328", "url": "https://glygen.org/publication/PubMed/34326328" } ] }, { "title": "Structure of a meiosis-specific complex central to BRCA2 localization at recombination sites.", "journal": "Nature structural & molecular biology", "date": "2021", "authors": "Pendlebury DF, Zhang J, Agrawal R, Shibuya H, Nandakumar J", "evidence": [ { "database": "RefSeq", "id": "NP_008962", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008962" } ], "reference": [ { "type": "PubMed", "id": "34373645", "url": "https://glygen.org/publication/PubMed/34373645" } ] }, { "title": "Novel testis-specific protein that interacts with heat shock factor 2.", "journal": "Gene", "date": "1998", "authors": "Yoshima T, Yura T, Yanagi H", "evidence": [ { "database": "UniProtKB", "id": "O75031", "url": "https://www.uniprot.org/uniprot/O75031" } ], "reference": [ { "type": "PubMed", "id": "9651507", "url": "https://glygen.org/publication/PubMed/9651507" } ] } ], "pathway": [ { "id": "hsa:11077", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:11077", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "G3V646-1", "protein_name": "Heat shock transcription factor 2 binding protein", "gene_name": "Hsf2bp", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MAAIVGERSGTEEACRHMESKEEFVKVRKKDLERLTTEVMQIRDFLPRILNGELLESFQKLKIVEKNLERKEQELEQLRLDCEHFKARLETALADSGREKKEKLALRQQLNEAKQQLLQQAEYCTQMGAVTCTLLWGVSSSEEVVKAILGGDKALKFFNITGQTMESFVKSLDGDVKEVDSDENQFVFALAGIVTNVAAVACGREFLVNSSQVLLDTMLQLLGDLKPGQCTKLKVLMLMSLYNVSINSKGLKYISESPGFIPLLWWLLSDPDAEVCLHAVRLIQSVVLEPDVFSKVASELQSSLPLQRILAMSKSRNSHLQSAARELLEDLRALDCSV", "length": 338 }, "evidence": [ { "id": "45919206", "url": "http://www.informatics.jax.org/homology/45919206", "database": "MGI" }, { "id": "O75031", "url": "https://omabrowser.org/oma/group/O75031/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q9D4G2-1", "protein_name": "Heat shock factor 2-binding protein", "gene_name": "Hsf2bp", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MAATVGDGSGTEEACRNMESKEEFVKVRKKDLERLTTEVMQIRDFLPRILNGELLESFQKLKMVEKNLERKEQELEQLIMDREHFKARLETAQADSGREKKEKLALRQQLNEAKQQLLQQAEYCTQMGAVTCTLLWGVSSSEEVVKTILGGDKALKFFNITGQTMESFVKSLDGDVKEVDSDENQFVFALAGIVTNVAAIACGREFLVNSSRVLLDTMLQLLGDLKPGQCTKLKVLMLMSLYNVSINSKGLKYITESPGFIPLLWWLLSDPDAEVCLHTLRLIQSVVLEPDVFSKVASELQSSLPLQRILAMSKSRNSHLQSAAQELLEDLRALDCNV", "length": 338 }, "evidence": [ { "id": "45919206", "url": "http://www.informatics.jax.org/homology/45919206", "database": "MGI" }, { "id": "O75031", "url": "https://omabrowser.org/oma/group/O75031/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 5, "go_terms": [ { "name": "female meiosis I", "id": "GO:0007144", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007144", "evidence": [ { "database": "UniProtKB", "id": "O75031", "url": "https://www.uniprot.org/uniprot/O75031" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "O75031", "url": "https://www.uniprot.org/uniprot/O75031" } ], "pmid": "" }, { "name": "transcription by RNA polymerase II", "id": "GO:0006366", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006366", "evidence": [ { "database": "UniProtKB", "id": "O75031", "url": "https://www.uniprot.org/uniprot/O75031" } ], "pmid": "" }, { "name": "double-strand break repair involved in meiotic recombination", "id": "GO:1990918", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990918", "evidence": [ { "database": "UniProtKB", "id": "O75031", "url": "https://www.uniprot.org/uniprot/O75031" } ], "pmid": "" }, { "name": "male meiosis I", "id": "GO:0007141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007141", "evidence": [ { "database": "UniProtKB", "id": "O75031", "url": "https://www.uniprot.org/uniprot/O75031" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O75031", "url": "https://www.uniprot.org/uniprot/O75031" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O75031", "url": "https://www.uniprot.org/uniprot/O75031" } ], "pmid": "" }, { "name": "chromosome", "id": "GO:0005694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005694", "evidence": [ { "database": "UniProtKB", "id": "O75031", "url": "https://www.uniprot.org/uniprot/O75031" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 205, "end_pos": 207, "annotation": "n_glycosylation_sequon" }, { "start_pos": 239, "end_pos": 241, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Sumoylated by UBE2I in response to MEKK1-mediated stimuli.", "evidence": [ { "database": "UniProtKB", "id": "O75031", "url": "https://www.uniprot.org/uniprot/O75031" }, { "database": "PubMed", "id": "17709345", "url": "https://glygen.org/publication/PubMed/17709345" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 205, "end_pos": 207 }, { "start_pos": 239, "end_pos": 241 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 7 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }