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

Gene ID: 158983, updated on 2-Nov-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: HPA RNA-seq normal tissues 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. 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)

Genotypes

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 DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
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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