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    HSFY2 heat shock transcription factor Y-linked 2 [ Homo sapiens (human) ]

    Gene ID: 159119, updated on 23-Nov-2023

    Summary

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    Official Symbol
    HSFY2provided by HGNC
    Official Full Name
    heat shock transcription factor Y-linked 2provided by HGNC
    Primary source
    HGNC:HGNC:23950
    See related
    Ensembl:ENSG00000169953 AllianceGenome:HGNC:23950
    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
    HSFY; HSF2L
    Summary
    This gene encodes a member of the heat shock factor (HSF) family of transcriptional activators for heat shock proteins. This gene is a candidate gene for azoospermia, since it localizes to a region of chromosome Y that is sometimes deleted in infertile males. The genome has two identical copies of this gene within a palindromic region; this record represents the more telomeric copy. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
    Expression
    Restricted expression toward testis (RPKM 13.8) See more
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    Genomic context

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    Location:
    Yq11.222
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) Y NC_000024.10 (18731440..18790764, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) Y NC_060948.1 (19637916..19697230, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) Y NC_000024.9 (20893326..20935621, complement)

    Chromosome Y - NC_000024.10Genomic Context describing neighboring genes Neighboring gene heat shock transcription factor Y-linked 1 Neighboring gene AZFb P4.1 recombination region Neighboring gene testis expressed transcript, Y-linked 9B Neighboring gene OFD1 pseudogene 5 Y-linked Neighboring gene trafficking protein particle complex 2 pseudogene 7 Neighboring gene RAB9A, member RAS oncogene family pseudogene 4 Neighboring gene OFD1 pseudogene 6 Y-linked Neighboring gene testis expressed transcript, Y-linked 9A Neighboring gene glycoprotein M6B pseudogene 2 Neighboring gene USP9Y pseudogene 2 Neighboring gene uncharacterized LOC124905305 Neighboring gene elongin C pseudogene 14 Neighboring gene PTPN13 like Y-linked pseudogene 6 Neighboring gene XK related, Y-linked pseudogene 2 Neighboring gene USP9Y pseudogene 10

    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. Characterization of HSFY, a novel AZFb gene on the Y chromosome with a possible role in human spermatogenesis. Tessari A, et al. Mol Hum Reprod, 2004 Apr. PMID 14985478
    2. Molecular characterization of heat shock-like factor encoded on the human Y chromosome, and implications for male infertility. Shinka T, et al. Biol Reprod, 2004 Jul. PMID 15044259
    3. The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Skaletsky H, et al. Nature, 2003 Jun 19. PMID 12815422
    4. A quantitative chaperone interaction network reveals the architecture of cellular protein homeostasis pathways. Taipale M, et al. Cell, 2014 Jul 17. PMID 25036637, Free PMC Article
    5. Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism. Corominas R, et al. Nat Commun, 2014 Apr 11. PMID 24722188, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Could have an important role in human spermatogenesis.
      Title: Characterization of HSFY, a novel AZFb gene on the Y chromosome with a possible role in human spermatogenesis.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ25453

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    heat shock transcription factor, Y-linked
    Names
    heat shock transcription factor 2-like protein

    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.

    mRNA and Protein(s)

    1. NM_001001877.2 → NP_001001877.1  heat shock transcription factor, Y-linked isoform 2

      See identical proteins and their annotated locations for NP_001001877.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) includes a different exon in the 3' coding region, resulting in a frameshift and earlier termination codon, compared to variant 1. The resulting isoform (2) is shorter and has a distinct C-terminus compared to isoform 1. Isoform 2 lacks the HFS-type DNA-binding domain found in isoform 1.
      Source sequence(s)
      AC007379
      Consensus CDS
      CCDS35476.1
      UniProtKB/Swiss-Prot
      Q96LI6
      Related
      ENSP00000340971.4, ENST00000344884.4
      Conserved Domains (1) summary
      pfam00447
      Location:86 → 154
      HSF_DNA-bind; HSF-type DNA-binding

    2. NM_153716.2 → NP_714927.1  heat shock transcription factor, Y-linked isoform 1

      See identical proteins and their annotated locations for NP_714927.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1) of this protein. Isoform 1 has an HSF-type DNA-binding motif.
      Source sequence(s)
      AC007379, AK058182
      Consensus CDS
      CCDS14791.1
      UniProtKB/Swiss-Prot
      Q17RC0, Q7Z4L8, Q96LI6, Q9BZA2, Q9BZA3
      Related
      ENSP00000306549.3, ENST00000304790.3
      Conserved Domains (1) summary
      pfam00447
      Location:80 → 194
      HSF_DNA-bind; HSF-type DNA-binding

    RNA

    1. NR_003509.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has an alternate 3' splice pattern, compared to variant 1. The transcript is sufficiently abundant to represent as a RefSeq record; however, the predicted protein is not represented because the transcript is a candidate for nonsense-mediated decay (NMD).
      Source sequence(s)
      AC007379
      Related
      ENST00000491902.1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000024.10 Reference GRCh38.p14 Primary Assembly

      Range
      18731440..18790764 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017030031.3 → XP_016885520.1  heat shock transcription factor, Y-linked isoform X3

      UniProtKB/Swiss-Prot
      Q96LI6
      Related
      ENSP00000372303.1, ENST00000382852.1
      Conserved Domains (1) summary
      pfam00447
      Location:80 → 182
      HSF_DNA-bind; HSF-type DNA-binding

    2. XM_017030030.3 → XP_016885519.1  heat shock transcription factor, Y-linked isoform X1

    3. XM_005262508.5 → XP_005262565.1  heat shock transcription factor, Y-linked isoform X2

      See identical proteins and their annotated locations for XP_005262565.1

      Conserved Domains (1) summary
      pfam00447
      Location:8 → 116
      HSF_DNA-bind; HSF-type DNA-binding

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060948.1 Alternate T2T-CHM13v2.0

      Range
      19637916..19697230 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054328254.1 → XP_054184229.1  heat shock transcription factor, Y-linked isoform X3

    2. XM_054328252.1 → XP_054184227.1  heat shock transcription factor, Y-linked isoform X1

    3. XM_054328253.1 → XP_054184228.1  heat shock transcription factor, Y-linked isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96LI6.1 GenPept UniProtKB/Swiss-Prot:Q96LI6

    Gene LinkOut

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

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