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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

H2BFWT Gene

protein-coding   GIFtS: 47
GCID: GC0XM103265

H2B histone family, member W, testis-specific

 Explore 6 diseases affiliated with
H2BFWT via our new
 Human Malady Compendium 
Biological research products
for H2BFWT
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
H2B Histone Family, Member W, Testis-Specific1 2
Histone H2B Type W-T2
H2B Histone Family Member W Testis-Specific3

External Ids:    HGNC: 272521   Entrez Gene: 1589832   Ensembl: ENSG000001235697   OMIM: 3005075   UniProtKB: Q7Z2G13   

Export aliases for H2BFWT gene to outside databases

Previous GC identifers: GC0XM102038 GC0XM103071 GC0XM103153 GC0XM092921


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for H2BFWT:
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 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, Jan 2010)

UniProtKB/Swiss-Prot: H2BWT_HUMAN, Q7Z2G1
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.1  NT_011651.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the H2BFWT gene promoter:
         MEF-2A   MEF-2   AP-4   aMEF-2   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidH2BFWT promoter sequence
   Search SABiosciences Chromatin IP Primers for H2BFWT

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat H2BFWT


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq22.2   Ensembl cytogenetic band:  Xq22.2   HGNC cytogenetic band: Xq22.2

H2BFWT Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
H2BFWT gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM103265:  view genomic region     (about GC identifiers)

Start:
103,265,719 bp from pter      End:
103,268,259 bp from pter
Size:
2,541 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: H2BWT_HUMAN, Q7Z2G1 (See protein sequence)
Recommended Name: Histone H2B type W-T  
Size: 175 amino acids; 19618 Da
Subunit: 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
Subcellular location: Nucleus membrane. Chromosome
Miscellaneous: In contrast to other H2B histones, it does not contain the conserved residue in C-terminus that is the
target of monoubiquitination
Miscellaneous: Ortholog in primates, but not in rodents
Secondary accessions: B1AK72 Q147W3

Explore the universe of human proteins at neXtProt for H2BFWT: NX_Q7Z2G1

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q7Z2G1

  • H2BFWT Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001002916.2  
    ENSEMBL proteins: 
     ENSP00000354723  

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    Uscn Proteins for H2BFWT

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000786nucleosome IEA--
    GO:0031965nuclear membrane IEA--


    H2BFWT for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    H2BFWT for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR009072 Histone-fold
     IPR000558 Histone_H2B
     IPR007125 Histone_core_D

    Graphical View of Domain Structure for InterPro Entry Q7Z2G1

    ProtoNet protein and cluster: Q7Z2G1

    UniProtKB/Swiss-Prot: H2BWT_HUMAN, Q7Z2G1
    Similarity: Belongs to the histone H2B family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: H2BWT_HUMAN, Q7Z2G1
    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

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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0046982protein heterodimerization activity IEA--


    H2BFWT for ontologies           About GeneDecksing



    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Systemic lupus erythematosus
    Systemic lupus erythematosus1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways



    1         Kegg Pathway  (Kegg details for H2BFWT):
        Systemic lupus erythematosus


    H2BFWT for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for H2BFWT

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006334nucleosome assembly IEA--


    H2BFWT for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for H2BFWT
    Search CenterWatch for drugs/clinical trials and news about H2BFWT / H2BWT 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for H2BFWT gene: 
    NM_001002916.3  

    Unigene Cluster for H2BFWT:

    H2B histone family, member W, testis-specific
    Hs.127778  [show with all ESTs]
    Unigene Representative Sequence: BC038109
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000217926(uc004elr.3)

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    Clone
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat H2BFWT
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    Additional cDNA sequence: 

    AY283370.1 BC038109.2 BC118604.1 BC121816.1 

    1 DOTS entry:

    DT.40127079 

    7 AceView cDNA sequences:

    AI143866 AA961176 NM_001002916 AY283370 BC038109 BI459475 BX095740 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    H2BFWT expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ACATATTGGA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See H2BFWT Protein Expression from SPIRE MOPED and PaxDB
    SOURCE GeneReport for Unigene cluster: Hs.127778

    UniProtKB/Swiss-Prot: H2BWT_HUMAN, Q7Z2G1
    Tissue specificity: Testis-specific. Present in sperm cells (at protein level)

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    In Situ
    Assay Products:
     

     
    Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for H2BFWT

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for H2BFWT gene from 6/22 species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves F1NF30_CHICK6
    Histone H2B
    41(a)
    possible ortholog
    2(148460-149781)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:925916
    si:ch211-190p8.26
    si:ch211-190p8.2
    44(a)
    43(a)
    possible ortholog
    possible ortholog
    24(35479785-35482169)
    24(35333778-35336191)
    fruit fly
    (Drosophila melanogaster)
    Insecta His2B:CG338886
    His2B:CG339086
    (see all 23)
    His2B:CG33908
    (see all 23)
    42(a)
    42(a)
    (see all 23)
    possible ortholog
    possible ortholog
    (see all 23)
    2L(21487832-21488386)
    2L(21428252-21428666)
    worm
    (Caenorhabditis elegans)
    Secernentea his-396
    his-666
    (see all 17)
    Probable histone H2B 4
    (see all 17)
    42(a)
    41(a)
    (see all 17)
    possible ortholog
    possible ortholog
    (see all 17)
    V(8536292-8536694)
    IV(11400393-11400764)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G094806
    AT5G025706
    (see all 11)
    histone H2B
    (see all 11)
    33(a)
    33(a)
    (see all 11)
    possible ortholog
    possible ortholog
    (see all 11)
    3(2914714-2915321)
    5(576742-577140)
    rice
    (Oryza sativa)
    Liliopsida --
    --
    (see all 11)
    Core histone H2A/H2B/H3/H4 domain containing prote...
    OsFBO1 - F-box and other domain containing protein...
    (see all 11)
    33(a)
    33(a)
    (see all 11)
    possible ortholog
    possible ortholog
    (see all 11)
    5(22562558-22563058)
    1(2843429-2857134)


    ENSEMBL Gene Tree for H2BFWT (if available)
    TreeFam Gene Tree for H2BFWT (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for H2BFWT gene
    HIST1H2BA2  H2BFM2  HIST1H2BM2  
    18/20 SIMAP similar genes for H2BFWT using alignment to 1 protein entry:     H2BWT_HUMAN(see all similar genes):
    H2BFM    HIST3H2BB    HIST1H2BD    HIST1H2BL    HIST1H2BM    HIST1H2BN
    HIST1H2BB    HIST1H2BE    HIST1H2BF    HIST1H2BG    HIST1H2BI    HIST1H2BK
    HIST1H2BC    H2BFS    HIST1H2BH    HIST1H2BJ    HIST1H2BO    HIST2H2BE

    H2BFWT for paralogs           About GeneDecksing


    3 Pseudogenes.org Pseudogenes for H2BFWT
    PGOHUM00000241483 PGOHUM00000241486 PGOHUM00000241932


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/79 NCBI SNPs in H2BFWT are shown (see all 79    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1468845931,2
    --103265227(+) TGGGTA/CCTTGC 1 -- ds50010--------
    rs1809171981,2
    --103265391(+) AGCCAC/TAGCTT 1 -- ds50010--------
    rs1406509251,2
    --103265589(+) GTTAAC/TGCTGT 1 -- ds50010--------
    rs1858580201,2
    --103265756(+) GACAGA/GAAGAC 1 -- ut310--------
    rs1907697561,2
    --103265776(+) AAAGCA/GAAAAC 1 -- ut310--------
    rs1444343151,2
    --103265787(+) AATTAA/GCATAA 1 -- ut310--------
    rs1465737781,2
    --103265819(+) AGATGC/TGGTGT 1 -- ut310--------
    rs134407791,2
    C,F,H,--103265924(+) CCTGGC/AGGCAC 1 -- ut3110Minor allele frequency- A:0.08NS EA NA WA 1090
    rs1820661621,2
    --103266212(+) ACGGTC/TCTCTG 1 -- int10--------
    rs1502204871,2
    --103266517(+) TACTCA/GGGCGG 1 -- int10--------

    HapMap Linkage Disequilibrium report for H2BFWT (103265719 - 103268259 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 10 variations for H2BFWT
         5 CNVs: 7756 3254 4160 68010 52902
         5 Inversions: 0664 37340 0663 37341 0665
    Human Gene Mutation Database (HGMD): H2BFWT

    Locus Specific Mutation Databases (LSDB): H2BFWT

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing H2BFWT
    DNA2.0 Custom Variant and Variant Library Synthesis for H2BFWT

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    H2BFWT for disorders           About GeneDecksing

    OMIM gene information: 300507    OMIM disorders: --

    6 diseases for H2BFWT:    About MalaCards
    male infertility    infertility    systemic lupus erythematosus    lupus erythematosus
    azoospermia    malaria

    1 disease from the University of Copenhagen DISEASES database for H2BFWT:
    Azoospermia
    Human Genome Epidemiology (HuGE) Navigator: H2BFWT (1 document)

    Export disorders for H2BFWT gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for H2BFWT gene integrated from 9 sources:
    (articles sorted by number of sources associating them with H2BFWT)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The NH2 tail of the novel histone variant H2BFWT exhibits properties distinct from conventional H2B with respect to the assembly of mitotic chromosomes. (PubMed id 16449661)1, 2 Boulard M.... Dimitrov S. (2006)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    3. Novel human testis-specific histone H2B encoded by the interrupted gene on the X chromosome. (PubMed id 15475252)1, 2 Churikov D.... Zalensky A. (2004)
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    5. Relationship of SNP of H2BFWT gene to male infertility in a Chinese population with idiopathic spermatogenesis impairment. (PubMed id 22509975)1 Ying H.Q....Zhou-Cun A. (2012)
    6. Functional polymorphism in H2BFWT-5'UTR is associated with susceptibility to male infertility. (PubMed id 19583817)1 Lee J....Lee S. (2009)
    7. The DNA sequence of the human X chromosome. (PubMed id 15772651)2 Ross M.T.... Bentley D.R. (2005)
    8. Male germline-specific histones in mouse and man. (PubMed id 15237208)1 Churikov D....Zalensky A.O. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 158983 HGNC: 27252 AceView: H2BFWT Ensembl:ENSG00000123569 euGenes: HUgn158983
    ECgene: H2BFWT Kegg: 158983 H-InvDB: H2BFWT

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for H2BFWT Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for H2BFWT gene:
    Search GeneIP for patents involving H2BFWT

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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