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

Gene ID: 11077, updated on 27-Nov-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 (23) 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

  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

  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

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

  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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