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    HSF2BP heat shock transcription factor 2 binding protein [ Homo sapiens (human) ]

    Gene ID: 11077, updated on 9-Dec-2024

    Summary

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    Official Symbol
    HSF2BPprovided by HGNC
    Official Full Name
    heat shock transcription factor 2 binding proteinprovided by HGNC
    Primary source
    HGNC:HGNC:5226
    See related
    Ensembl:ENSG00000160207 MIM:604554; AllianceGenome:HGNC:5226
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    POF19; MEILB2
    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]
    Expression
    Biased expression in testis (RPKM 2.8), brain (RPKM 0.5) and 6 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See HSF2BP in Genome Data Viewer
    Location:
    21q22.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (43444972..43659488, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (41831697..42015233, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (44949066..45079369, complement)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:44834223-44834804 Neighboring gene uncharacterized LOC124905029 Neighboring gene Sharpr-MPRA regulatory region 10850 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:44853691-44854192 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:44854193-44854692 Neighboring gene SIK1-LINC00319 intergenic CAGE-defined high expression enhancer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:44865413-44866032 Neighboring gene salt inducible kinase 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:44866033-44866652 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:44867273-44867892 Neighboring gene uncharacterized LOC124900467 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:44874448-44875423 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:44875523-44876522 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:44876822-44877032 Neighboring gene long intergenic non-protein coding RNA 319 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:44882521-44883518 Neighboring gene uncharacterized LOC102723380 Neighboring gene long intergenic non-protein coding RNA 313 Neighboring gene Sharpr-MPRA regulatory region 2841 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:44905292-44906122 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:44908716-44908853 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:44912277-44913132 Neighboring gene Sharpr-MPRA regulatory region 13752 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:44918667-44919571 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:44922889-44923698 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:44923814-44924426 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:44924427-44925037 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:44928045-44928546 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:44931227-44931922 Neighboring gene ribosomal protein L31 pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:45003551-45004052 Neighboring gene H2B clustered histone 12 like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13361 Neighboring gene microRNA 6070 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13362 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18544 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18545 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:45094121-45094620 Neighboring gene ribosomal RNA processing 1B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13363 Neighboring gene uncharacterized LOC124905030

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Structure of a meiosis-specific complex central to BRCA2 localization at recombination sites. Pendlebury DF, et al. Nat Struct Mol Biol, 2021 Aug. PMID 34373645, Free PMC Article
    2. Novel testis-specific protein that interacts with heat shock factor 2. Yoshima T, et al. Gene, 1998 Jul 3. PMID 9651507
    3. HSF2BP negatively regulates homologous recombination in DNA interstrand crosslink repair. Sato K, et al. Nucleic Acids Res, 2020 Mar 18. PMID 31960047, Free PMC Article
    4. BRCA2 binding through a cryptic repeated motif to HSF2BP oligomers does not impact meiotic recombination. Ghouil R, et al. Nat Commun, 2021 Jul 29. PMID 34326328, Free PMC Article
    5. HSF2BP Interacts with a Conserved Domain of BRCA2 and Is Required for Mouse Spermatogenesis. Brandsma I, et al. Cell Rep, 2019 Jun 25. PMID 31242413

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Structure of a meiosis-specific complex central to BRCA2 localization at recombination sites.
      Title: Structure of a meiosis-specific complex central to BRCA2 localization at recombination sites.
    2. BRCA2 binding through a cryptic repeated motif to HSF2BP oligomers does not impact meiotic recombination.
      Title: BRCA2 binding through a cryptic repeated motif to HSF2BP oligomers does not impact meiotic recombination.
    3. Naturally occurring elevated production of HSF2BP in tumors may be a source of cancer-promoting genomic instability and also a targetable vulnerability.
      Title: HSF2BP negatively regulates homologous recombination in DNA interstrand crosslink repair.
    4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Premature ovarian failure 19
    MedGen: C5543229 OMIM: 619245 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in double-strand break repair involved in meiotic recombination ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in female meiosis I ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in male meiosis I ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in spermatogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in transcription by RNA polymerase II TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in chromosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol HDA PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    heat shock factor 2-binding protein
    Names
    meiotic localizer of BRCA2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011491.2 RefSeqGene

      Range
      5000..135302
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_007031.2 → NP_008962.1  heat shock factor 2-binding protein

      See identical proteins and their annotated locations for NP_008962.1

      Status: REVIEWED

      Source sequence(s)
      AB007131, AP001050
      Consensus CDS
      CCDS13697.1
      UniProtKB/Swiss-Prot
      B4DX36, O75031
      UniProtKB/TrEMBL
      Q6IAT7
      Related
      ENSP00000291560.2, ENST00000291560.7
      Conserved Domains (1) summary
      cl19764
      Location:47 → 106
      COG6; Conserved oligomeric complex COG6

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      43444972..43659488 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017028269.2 → XP_016883758.1  heat shock factor 2-binding protein isoform X4

    2. XM_017028268.2 → XP_016883757.1  heat shock factor 2-binding protein isoform X3

    3. XM_017028267.2 → XP_016883756.1  heat shock factor 2-binding protein isoform X2

      Conserved Domains (1) summary
      PRK12704
      Location:17 → 118
      PRK12704; phosphodiesterase; Provisional

    4. XM_017028270.2 → XP_016883759.1  heat shock factor 2-binding protein isoform X6

    5. XM_047440677.1 → XP_047296633.1  heat shock factor 2-binding protein isoform X7

    6. XM_011529443.3 → XP_011527745.2  heat shock factor 2-binding protein isoform X1

    7. XM_047440674.1 → XP_047296630.1  heat shock factor 2-binding protein isoform X1

    8. XM_047440675.1 → XP_047296631.1  heat shock factor 2-binding protein isoform X2

    9. XM_047440678.1 → XP_047296634.1  heat shock factor 2-binding protein isoform X8

    10. XM_017028272.2 → XP_016883761.1  heat shock factor 2-binding protein isoform X10

      UniProtKB/TrEMBL
      C9JSF2
      Conserved Domains (1) summary
      cl19764
      Location:47 → 118
      COG6; Conserved oligomeric complex COG6

    11. XM_011529447.3 → XP_011527749.1  heat shock factor 2-binding protein isoform X9

      UniProtKB/TrEMBL
      C9JSF2
      Related
      ENSP00000409585.1, ENST00000443485.1
      Conserved Domains (1) summary
      cl19764
      Location:47 → 118
      COG6; Conserved oligomeric complex COG6

    12. XM_047440679.1 → XP_047296635.1  heat shock factor 2-binding protein isoform X10

      UniProtKB/TrEMBL
      C9JSF2

    13. XM_047440676.1 → XP_047296632.1  heat shock factor 2-binding protein isoform X5

      UniProtKB/Swiss-Prot
      B4DX36, O75031
      UniProtKB/TrEMBL
      Q6IAT7

    RNA

    1. XR_007067782.1 RNA Sequence

    2. XR_007067781.1 RNA Sequence

    3. XR_007067780.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      41831697..42015233 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054324325.1 → XP_054180300.1  heat shock factor 2-binding protein isoform X3

    2. XM_047447026.1 → XP_047302982.1  heat shock factor 2-binding protein isoform X6

    3. XM_047447027.1 → XP_047302983.1  heat shock factor 2-binding protein isoform X7

    4. XM_047447019.1 → XP_047302975.1  heat shock factor 2-binding protein isoform X1

    5. XM_047447020.1 → XP_047302976.1  heat shock factor 2-binding protein isoform X1

    6. XM_047447021.1 → XP_047302977.1  heat shock factor 2-binding protein isoform X2

    7. XM_047447022.1 → XP_047302978.1  heat shock factor 2-binding protein isoform X2

    8. XM_047447030.1 → XP_047302986.1  heat shock factor 2-binding protein isoform X10

      UniProtKB/TrEMBL
      C9JSF2

    9. XM_047447024.1 → XP_047302980.1  heat shock factor 2-binding protein isoform X5

      UniProtKB/Swiss-Prot
      B4DX36, O75031
      UniProtKB/TrEMBL
      Q6IAT7

    10. XM_047447031.1 → XP_047302987.1  heat shock factor 2-binding protein isoform X10

      UniProtKB/TrEMBL
      C9JSF2

    11. XM_047447029.1 → XP_047302985.1  heat shock factor 2-binding protein isoform X9

      UniProtKB/TrEMBL
      C9JSF2

    12. XM_047447028.1 → XP_047302984.1  heat shock factor 2-binding protein isoform X8

    RNA

    1. XR_007090213.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75031.1 GenPept UniProtKB/Swiss-Prot:O75031

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    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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