Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	11077
Gene name	Heat shock transcription factor 2 binding protein
Gene symbol	HSF2BP
Synonyms (NCBI Gene)	MEILB2POF19
Chromosome	21
Chromosome location	21q22.3
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 modulatin

Show/Hide all (15)

miRTarBase ID	miRNA	Experiments
MIRT2465455	hsa-miR-3619-3p	CLIP-seq
MIRT2465456	hsa-miR-4776-5p	CLIP-seq
MIRT2465457	hsa-miR-4802-3p	CLIP-seq
MIRT2548060	hsa-miR-1271	CLIP-seq
MIRT2548061	hsa-miR-182	CLIP-seq
MIRT2548062	hsa-miR-31	CLIP-seq
MIRT2548063	hsa-miR-3121-5p	CLIP-seq
MIRT2548064	hsa-miR-4757-5p	CLIP-seq
MIRT2548065	hsa-miR-96	CLIP-seq
MIRT2548060	hsa-miR-1271	CLIP-seq
MIRT2548061	hsa-miR-182	CLIP-seq
MIRT2548062	hsa-miR-31	CLIP-seq
MIRT2548063	hsa-miR-3121-5p	CLIP-seq
MIRT2548064	hsa-miR-4757-5p	CLIP-seq
MIRT2548065	hsa-miR-96	CLIP-seq

Show/Hide all (18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	21900206, 31242413, 32296183, 33961781
GO:0005654	Component	Nucleoplasm	IDA
GO:0005694	Component	Chromosome	IDA	31242413
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	HDA	16780588
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0006366	Process	Transcription by RNA polymerase II	TAS	9651507
GO:0007141	Process	Male meiosis I	IEA
GO:0007141	Process	Male meiosis I	ISS
GO:0007144	Process	Female meiosis I	IEA
GO:0007144	Process	Female meiosis I	ISS
GO:0007283	Process	Spermatogenesis	IEA
GO:0007283	Process	Spermatogenesis	ISS
GO:0007283	Process	Spermatogenesis	TAS	9651507
GO:1990918	Process	Double-strand break repair involved in meiotic recombination	IEA
GO:1990918	Process	Double-strand break repair involved in meiotic recombination	ISS

MIM	HGNC	e!Ensembl
604554	5226	ENSG00000160207

O75031

Protein name

Heat shock factor 2-binding protein

Protein 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 a

PDB

7BDX , 7LDG , 8A50 , 8A51

Family and domains

Tissue specificity

TISSUE SPECIFICITY: Testis specific. Overexpressed in some tumors (PubMed:31242413). {ECO:0000269|PubMed:31242413, ECO:0000269|PubMed:9651507}.

Sequence

MGEAGAAEEACRHMGTKEEFVKVRKKDLERLTTEVMQIRDFLPRILNGEVLESFQKLKIV
EKNLERKEQELEQLKMDCEHFKARLETVQADNIREKKEKLALRQQLNEAKQQLLQQAEYC
TEMGAAACTLLWGVSSSEEVVKAILGGDKALKFFSITGQTMESFVKSLDGDVQELDSDES
QFVFALAGIVTNVAAIACGREFLVNSSRVLLDTILQLLGDLKPGQCTKLKVLMLMSLYNV
SINLKGLKYISESPGFIPLLWWLLSDPDAEVCLHVLRLVQSVVLEPEVFSKSASEFRSSL
PLQRILAMSKSRNPRLQTAAQELLEDLRTLEHNV

Sequence length

334

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Premature ovarian failure 19	Likely pathogenic	rs1319345920, rs781780538	RCV001615396 RCV001615397	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EOSINOPHILIC ESOPHAGITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (3)

Disease Name	Disease (Merged)	Source	PMID	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Cardiovascular Diseases	Cardiovascular Diseases	GWASCAT_DG	30595370	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	GWASCAT_DG	30940143	★★★★★ ★☆☆☆☆ Found in Text Mining only
Eosinophilic esophagitis	Eosinophilia	GWASCAT_DG	25017104	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

HSF2BP (heat shock transcription factor 2 binding protein)