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

Gene ID: 159119, updated on 11-Jun-2021

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
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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See HSFY2 in Genome Data Viewer
Location:
Yq11.222
Exon count:
8
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) Y NC_000024.10 (18731440..18790735, complement)
105.20201022 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 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-specific transcript, Y-linked 9A Neighboring gene glycoprotein M6B pseudogene 2 Neighboring gene USP9Y pseudogene 2 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

See citations in PubMed for homologs of this gene provided by HomoloGene

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
 PubMed 
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
 PubMed 
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
 PubMed 
Component Evidence Code Pubs
located_in chromatin ISA
Inferred from Sequence Alignment
more info
  
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 

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.

Genomic

  1. NG_004636.1 

    Range
    1215345..1257640 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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
    Q96LI6
    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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000024.10 Reference GRCh38.p13 Primary Assembly

    Range
    18731440..18790735 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017030031.2 → 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_017030030.2 → XP_016885519.1  heat shock transcription factor, Y-linked isoform X1

  3. XM_005262508.4 → 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
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96LI6.1 GenPept UniProtKB/Swiss-Prot:Q96LI6

Gene LinkOut

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