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    H2BW1 H2B.W histone 1 [ Homo sapiens (human) ]

    Gene ID: 158983, updated on 10-Dec-2024

    Summary

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    Official Symbol
    H2BW1provided by HGNC
    Official Full Name
    H2B.W histone 1provided by HGNC
    Primary source
    HGNC:HGNC:27252
    See related
    Ensembl:ENSG00000123569 MIM:300507; AllianceGenome:HGNC:27252
    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
    H2BFWT; TH2B-175
    Summary
    Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene encodes a replication-independent histone that is a member of the H2B histone family that is specifically expressed in sperm nuclei. A polymorphism in the 5' UTR of this gene is associated with male infertility.[provided by RefSeq, Oct 2015]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    all
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    Genomic context

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    See H2BW1 in Genome Data Viewer
    Location:
    Xq22.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (104011147..104013708, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (102466207..102468768)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (103265719..103268280, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene H2B.W histone 4, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:103238205-103238704 Neighboring gene uncharacterized LOC107987334 Neighboring gene H2B.W histone 2 Neighboring gene uncharacterized LOC107985662

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Male germline-specific histones in mouse and man. Churikov D, et al. Cytogenet Genome Res, 2004. PMID 15237208
    2. Novel human testis-specific histone H2B encoded by the interrupted gene on the X chromosome. Churikov D, et al. Genomics, 2004 Oct. PMID 15475252
    3. Association between two common transitions of H2BFWT gene and male infertility: a case-control, meta, and structural analysis. Teimouri M, et al. Andrology, 2018 Mar. PMID 29453813
    4. Association of the c.-9C>T and c.368A>G transitions in H2BFWT gene with male infertility in an Iranian population. Rafatmanesh A, et al. Andrologia, 2018 Feb. PMID 28370107
    5. The NH2 tail of the novel histone variant H2BFWT exhibits properties distinct from conventional H2B with respect to the assembly of mitotic chromosomes. Boulard M, et al. Mol Cell Biol, 2006 Feb. PMID 16449661, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. H2BFWT Variations in Sperm DNA and Its Correlation to Pregnancy.
      Title: H2BFWT Variations in Sperm DNA and Its Correlation to Pregnancy.
    2. Impact of tobacco smoking in association with H2BFWT, PRM1 and PRM2 genes variants on male infertility.
      Title: Impact of tobacco smoking in association with H2BFWT, PRM1 and PRM2 genes variants on male infertility.
    3. Tobacco smoking and its impact on the expression level of sperm nuclear protein genes: H2BFWT, TNP1, TNP2, PRM1 and PRM2.
      Title: Tobacco smoking and its impact on the expression level of sperm nuclear protein genes: H2BFWT, TNP1, TNP2, PRM1 and PRM2.
    4. the association of -9C>T and 368A>G polymorphisms in H2BFWT gene with male infertility risk was assessed through a case-control and meta-analysis
      Title: Association between two common transitions of H2BFWT gene and male infertility: a case-control, meta, and structural analysis.
    5. It is concluded that H2BFWT gene c.-9C>T and c.368A>G polymorphisms might be genetic risk factors for idiopathic male infertility.
      Title: Association of the c.-9C>T and c.368A>G transitions in H2BFWT gene with male infertility in an Iranian population.
    6. Data indicate that the polymorphism -9C>T and 368A>G in H2BFWT gene are associated with male infertility with idiopathic azoospermia or oligozoospermia, suggesting susceptibility of H2BFWT gene to spermatogenesis impairment in Chinese population.
      Title: Relationship of SNP of H2BFWT gene to male infertility in a Chinese population with idiopathic spermatogenesis impairment.
    7. Observational study of gene-disease association. (HuGE Navigator)
      Title: Functional polymorphism in H2BFWT-5'UTR is associated with susceptibility to male infertility.
    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC148130, MGC148131

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein heterodimerization activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables structural constituent of chromatin IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    NOT involved_in mitotic chromosome condensation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in chromosome, telomeric region IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nuclear membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of nucleosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    histone H2B type W-T
    Names
    H2B histone family member W, testis specific

    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_016406.2 RefSeqGene

      Range
      4981..7542
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001002916.5 → NP_001002916.4  histone H2B type W-T

      Status: REVIEWED

      Source sequence(s)
      AC234782
      Consensus CDS
      CCDS35362.2
      UniProtKB/Swiss-Prot
      B1AK72, Q147W3, Q7Z2G1
      Related
      ENSP00000354723.5, ENST00000217926.7
      Conserved Domains (1) summary
      cl23830
      Location:25 → 138
      H2B; Histone H2B

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      104011147..104013708 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      102466207..102468768
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z2G1.4 GenPept UniProtKB/Swiss-Prot:Q7Z2G1

    Gene LinkOut

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

    Chemical Information
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