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 ... See more...

Aliases for H2BW1 Gene

Aliases for H2BW1 Gene

  • H2B.W Histone 1 2 3
  • H2B Histone Family Member W, Testis Specific 2 3 5
  • Histone H2B Type W-T 3 4
  • H2BFWT 3 5
  • H2B Histone Family, Member W, Testis-Specific 2
  • H2B Histone Family Member W Testis-Specific 4

External Ids for H2BW1 Gene

Previous HGNC Symbols for H2BW1 Gene

  • H2BFWT

Summaries for H2BW1 Gene

Entrez Gene Summary for H2BW1 Gene

  • 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]

GeneCards Summary for H2BW1 Gene

H2BW1 (H2B.W Histone 1) is a Protein Coding gene. Diseases associated with H2BW1 include Male Infertility and Infertility. Among its related pathways are Viral carcinogenesis and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. An important paralog of this gene is H2BW2.

UniProtKB/Swiss-Prot Summary for H2BW1 Gene

  • Atypical histone H2B. Nucleosomes containing it are structurally and dynamically indistinguishable from those containing conventional H2B. However, unlike conventional H2B, does not recruit chromosome condensation factors and does not participate in the assembly of mitotic chromosomes. May be important for telomere function.

Additional gene information for H2BW1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for H2BW1 Gene

Genomics for H2BW1 Gene

GeneHancer (GH) Regulatory Elements for H2BW1 Gene

Promoters and enhancers for H2BW1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ104013 Promoter 0.4 EPDnew 500.7 0.0 -41 0.1 CTCFL H2BW1 H2BW2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around H2BW1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for H2BW1

Genomic Locations for H2BW1 Gene

Genomic Locations for H2BW1 Gene
chrX:104,011,147-104,013,687
(GRCh38/hg38)
Size:
2,541 bases
Orientation:
Minus strand
chrX:103,265,719-103,268,259
(GRCh37/hg19)
Size:
2,541 bases
Orientation:
Minus strand

Genomic View for H2BW1 Gene

Genes around H2BW1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
H2BW1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for H2BW1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for H2BW1 Gene

Proteins for H2BW1 Gene

  • Protein details for H2BW1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z2G1-H2BWT_HUMAN
    Recommended name:
    Histone H2B type W-T
    Protein Accession:
    Q7Z2G1
    Secondary Accessions:
    • B1AK72
    • Q147W3

    Protein attributes for H2BW1 Gene

    Size:
    175 amino acids
    Molecular mass:
    19618 Da
    Quaternary structure:
    • The nucleosome is a histone octamer containing two molecules each of H2A, H2B, H3 and H4 assembled in one H3-H4 heterotetramer and two H2A-H2B heterodimers. The octamer wraps approximately 147 bp of DNA.
    Miscellaneous:
    • In contrast to other H2B histones, it does not contain the conserved residue in C-terminus that is the target of monoubiquitination.
    • Ortholog in primates, but not in rodents.

neXtProt entry for H2BW1 Gene

Post-translational modifications for H2BW1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for H2BW1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for H2BW1 Gene

Domains & Families for H2BW1 Gene

Gene Families for H2BW1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for H2BW1 Gene

Suggested Antigen Peptide Sequences for H2BW1 Gene

GenScript: Design optimal peptide antigens:
  • H2B histone family member W testis-specific (H2BWT_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q7Z2G1

UniProtKB/Swiss-Prot:

H2BWT_HUMAN :
  • Belongs to the histone H2B family.
Family:
  • Belongs to the histone H2B family.
genes like me logo Genes that share domains with H2BW1: view

Function for H2BW1 Gene

Molecular function for H2BW1 Gene

UniProtKB/Swiss-Prot Function:
Atypical histone H2B. Nucleosomes containing it are structurally and dynamically indistinguishable from those containing conventional H2B. However, unlike conventional H2B, does not recruit chromosome condensation factors and does not participate in the assembly of mitotic chromosomes. May be important for telomere function.

Gene Ontology (GO) - Molecular Function for H2BW1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IBA 21873635
GO:0046982 protein heterodimerization activity IEA --
genes like me logo Genes that share ontologies with H2BW1: view

Phenotypes for H2BW1 Gene

GenomeRNAi human phenotypes for H2BW1:
genes like me logo Genes that share phenotypes with H2BW1: view

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for H2BW1 Gene

Localization for H2BW1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for H2BW1 Gene

Nucleus membrane. Chromosome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for H2BW1 gene
Compartment Confidence
nucleus 4
mitochondrion 2
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for H2BW1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000786 nucleosome IEA --
GO:0005634 nucleus IEA --
GO:0005694 chromosome IEA --
GO:0016020 membrane IEA --
GO:0031965 nuclear membrane IEA --
genes like me logo Genes that share ontologies with H2BW1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for H2BW1 Gene

Pathways & Interactions for H2BW1 Gene

genes like me logo Genes that share pathways with H2BW1: view

Pathways by source for H2BW1 Gene

Gene Ontology (GO) - Biological Process for H2BW1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006334 nucleosome assembly IBA 21873635
genes like me logo Genes that share ontologies with H2BW1: view

No data available for SIGNOR curated interactions for H2BW1 Gene

Drugs & Compounds for H2BW1 Gene

No Compound Related Data Available

Transcripts for H2BW1 Gene

mRNA/cDNA for H2BW1 Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for H2BW1 Gene

No ASD Table

Relevant External Links for H2BW1 Gene

GeneLoc Exon Structure for
H2BW1

Expression for H2BW1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for H2BW1

SOURCE GeneReport for Unigene cluster for H2BW1 Gene:

Hs.127778

mRNA Expression by UniProt/SwissProt for H2BW1 Gene:

Q7Z2G1-H2BWT_HUMAN
Tissue specificity: Testis-specific. Present in sperm cells (at protein level).

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for H2BW1 Gene

Orthologs for H2BW1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for H2BW1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia H2BFWT 31
  • 97 (a)
OneToOne
LOC473712 30
  • 96.38 (n)
dog
(Canis familiaris)
Mammalia H2BFWT 30
  • 68.78 (n)
-- 31
  • 55 (a)
OneToMany
cow
(Bos Taurus)
Mammalia LOC523458 30
  • 67.59 (n)
-- 31
  • 49 (a)
ManyToMany
-- 31
  • 44 (a)
ManyToMany
-- 31
  • 43 (a)
ManyToMany
-- 31
  • 43 (a)
ManyToMany
-- 31
  • 41 (a)
ManyToMany
-- 31
  • 39 (a)
ManyToMany
-- 31
  • 37 (a)
ManyToMany
-- 31
  • 34 (a)
ManyToMany
-- 31
  • 27 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 29 (a)
OneToMany
mouse
(Mus musculus)
Mammalia H2bfm 31
  • 25 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 31
  • 42 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii si:ch211-190p8.2 31
  • 45 (a)
ManyToMany
zgc:92591 31
  • 45 (a)
ManyToMany
si:dkey-108k21.11 31
  • 41 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta His2B:CG33904 31
  • 44 (a)
ManyToMany
His2B:CG33888 31
  • 44 (a)
ManyToMany
His2B:CG33880 31
  • 44 (a)
ManyToMany
His2B:CG33878 31
  • 44 (a)
ManyToMany
His2B:CG33894 31
  • 44 (a)
ManyToMany
His2B:CG33890 31
  • 44 (a)
ManyToMany
His2B:CG33876 31
  • 44 (a)
ManyToMany
His2B:CG33902 31
  • 44 (a)
ManyToMany
His2B:CG33882 31
  • 44 (a)
ManyToMany
His2B:CG33874 31
  • 44 (a)
ManyToMany
His2B:CG33908 31
  • 44 (a)
ManyToMany
His2B:CG33872 31
  • 44 (a)
ManyToMany
His2B:CG33884 31
  • 44 (a)
ManyToMany
His2B:CG33868 31
  • 44 (a)
ManyToMany
His2B:CG33906 31
  • 44 (a)
ManyToMany
His2B:CG33870 31
  • 44 (a)
ManyToMany
His2B:CG33886 31
  • 44 (a)
ManyToMany
His2B:CG33892 31
  • 44 (a)
ManyToMany
His2B:CG33896 31
  • 44 (a)
ManyToMany
His2B:CG17949 31
  • 44 (a)
ManyToMany
His2B:CG33898 31
  • 44 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea his-39 31
  • 44 (a)
ManyToMany
his-44 31
  • 43 (a)
ManyToMany
his-29 31
  • 43 (a)
ManyToMany
his-34 31
  • 43 (a)
ManyToMany
his-15 31
  • 43 (a)
ManyToMany
his-11 31
  • 43 (a)
ManyToMany
his-62 31
  • 42 (a)
ManyToMany
his-48 31
  • 42 (a)
ManyToMany
his-58 31
  • 42 (a)
ManyToMany
his-66 31
  • 42 (a)
ManyToMany
his-41 31
  • 41 (a)
ManyToMany
his-22 31
  • 41 (a)
ManyToMany
his-4 31
  • 41 (a)
ManyToMany
his-52 31
  • 41 (a)
ManyToMany
his-20 31
  • 41 (a)
ManyToMany
his-8 31
  • 41 (a)
ManyToMany
his-54 31
  • 37 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HTB1 31
  • 34 (a)
ManyToMany
HTB2 31
  • 34 (a)
ManyToMany
Species where no ortholog for H2BW1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for H2BW1 Gene

ENSEMBL:
Gene Tree for H2BW1 (if available)
TreeFam:
Gene Tree for H2BW1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for H2BW1: view image

Paralogs for H2BW1 Gene

Pseudogenes.org Pseudogenes for H2BW1 Gene

genes like me logo Genes that share paralogs with H2BW1: view

Variants for H2BW1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for H2BW1 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
719162 Benign: not provided 104,012,755(-) A/G INTRON_VARIANT
rs17332043 - p.Arg87Trp
rs553509 - p.Arg123His

Additional dbSNP identifiers (rs#s) for H2BW1 Gene

Structural Variations from Database of Genomic Variants (DGV) for H2BW1 Gene

Variant ID Type Subtype PubMed ID
dgv2356e212 CNV gain 25503493
dgv5n1 OTHER inversion 15895083
dgv63n47 OTHER inversion 21111241
esv1007027 OTHER inversion 20482838
esv22275 CNV gain 19812545
esv2758880 CNV gain 17122850
esv32549 CNV loss 17666407
esv3577013 CNV gain 25503493
esv3577033 CNV gain 25503493
nsv1129090 CNV duplication 24896259
nsv208 OTHER inversion 15895083
nsv469772 CNV gain 16826518
nsv519626 CNV gain 19592680
nsv7453 OTHER inversion 18451855

Variation tolerance for H2BW1 Gene

Residual Variation Intolerance Score: 97.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.75; 15.78% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for H2BW1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
H2BW1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for H2BW1 Gene

Disorders for H2BW1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for H2BW1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
male infertility
  • infertility male
infertility
spermatogenic failure, x-linked, 1
  • spgfx1
- elite association - COSMIC cancer census association via MalaCards
Search H2BW1 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with H2BW1: view

No data available for UniProtKB/Swiss-Prot , Genatlas and External Links for H2BW1 Gene

Publications for H2BW1 Gene

  1. Novel human testis-specific histone H2B encoded by the interrupted gene on the X chromosome. (PMID: 15475252) Churikov D … Zalensky A (Genomics 2004) 2 3 4 54
  2. The NH2 tail of the novel histone variant H2BFWT exhibits properties distinct from conventional H2B with respect to the assembly of mitotic chromosomes. (PMID: 16449661) Boulard M … Dimitrov S (Molecular and cellular biology 2006) 3 4 54
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  4. Association of the c.-9C>T and c.368A>G transitions in H2BFWT gene with male infertility in an Iranian population. (PMID: 28370107) Rafatmanesh A … Zamani T (Andrologia 2018) 3 54
  5. Association between two common transitions of H2BFWT gene and male infertility: a case-control, meta, and structural analysis. (PMID: 29453813) Teimouri M … Mazoochi T (Andrology 2018) 3 54

Products for H2BW1 Gene

Sources for H2BW1 Gene