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H2BFWT Gene

protein-coding   GIFtS: 50
GCID: GC0XM103265

H2B Histone Family, Member W, Testis-Specific

  See H2BFWT-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for H2BFWT 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 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)

GeneCards Summary for H2BFWT Gene:
H2BFWT (H2B histone family, member W, testis-specific) is a protein-coding gene. Diseases associated with H2BFWT include male infertility, and infertility. GO annotations related to this gene include protein heterodimerization activity. An important paralog of this gene is HIST1H2BA.

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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000023.10  NC_018934.2  NT_011651.18  
Regulatory elements:
   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 Chromatin IP Primers for H2BFWT

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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
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

Explore proteomics data for H2BFWT at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See H2BFWT Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001002916.3  
    ENSEMBL proteins: 
     ENSP00000354723  

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    antibodies-online antibodies for H2BFWT (23 products) 

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    RIH: Histones / Replication-independent

    3 InterPro protein domains:
     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


    Find genes that share domains with H2BFWT           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0046982protein heterodimerization activity IEA--
         
    Find genes that share ontologies with H2BFWT           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for H2BFWT

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    H2BWT_HUMAN, Q7Z2G1: Nucleus membrane. Chromosome
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    mitochondrion2
    peroxisome2
    extracellular1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000786nucleosome IEA--
    GO:0005634nucleus ----
    GO:0031965nuclear membrane IEA--

    Find genes that share ontologies with H2BFWT           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for H2BFWT About    
    See pathways by source

    SuperPathContained pathways About
    1RNA Polymerase I Promoter Opening
    Systemic lupus erythematosus0.40
    Alcoholism0.34
    2Viral carcinogenesis
    Viral carcinogenesis


    Find genes that share SuperPaths with H2BFWT           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways




    3 Kegg Pathways  (Kegg details for H2BFWT):
        Alcoholism
    Viral carcinogenesis
    Systemic lupus erythematosus

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for H2BFWT
    Interactions:

        Search GeneGlobe Interaction Network for H2BFWT

    STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

    Selected Interacting proteins for H2BFWT (ENSP000003547234) via UniProtKB, MINT, STRING, and/or I2D (see all 17)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BTAF1ENSP000002659904STRING: ENSP00000265990
    IPO9ENSP000003547424STRING: ENSP00000354742
    POLR3AENSP000003614464STRING: ENSP00000361446
    DDB1ENSP000003017644STRING: ENSP00000301764
    INO80ENSP000003552054STRING: ENSP00000355205
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

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

    Find genes that share ontologies with H2BFWT           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for H2BFWT (H2BWT)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for H2BFWT gene: 
    NM_001002916.4  

    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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    Additional mRNA sequence: 

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

    1 DOTS entry:

    DT.40127079 

    7 AceView cDNA sequences:

    AA961176 AI143866 AY283370 BC038109 NM_001002916 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    H2BFWT expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACATATTGGA
    H2BFWT Expression
    About this image

    H2BFWT Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    H2BFWT Protein Expression

    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:
     

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

    Orthologs for H2BFWT gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves --
    Histone H2B
    42(a)
    1 → many
    2(142049-143378)
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch211-190p8.26
    zgc:925916
    (see all 3)
    zgc:92591
    (see all 3)
    45(a)
    45(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    24(35333778-35336191) ENSDARG00000088276
    24(35479785-35482169) ENSDARG00000071420
    fruit fly
    (Drosophila melanogaster)
    Insecta His2B:CG339046
    His2B:CG338886
    (see all 21)
    His2B:CG33888
    (see all 21)
    44(a)
    44(a)
    (see all 21)
    many ↔ many
    many ↔ many
    (see all 21)
    2L(21438347-21438901)
    2L(21487832-21488386)
    worm
    (Caenorhabditis elegans)
    Secernentea his-396
    his-446
    (see all 17)
    Protein HIS-15 (his-15) mRNA, complete cds
    (see all 17)
    44(a)
    43(a)
    (see all 17)
    many ↔ many
    many ↔ many
    (see all 17)
    V(8536314-8536716) WBGene00001913
    II(13826730-13827098) WBGene00001918
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes HTB16
    HTB26
    Histone H2B, core histone protein required for chr...
    Histone H2B, core histone protein required for chr...
    34(a)
    34(a)
    many ↔ many
    many ↔ many
    IV(914317-914712) YDR224C
    II(236492-236887) YBL002W
            Species with no ortholog for H2BFWT

    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)
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    Paralogs for H2BFWT gene
    HIST1H2BA2  H2BFM2  
    Selected 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

    Find genes that share paralogs with H2BFWT           About GenesLikeMe


    3 Pseudogenes.org Pseudogenes for H2BFWT
    PGOHUM00000241483 PGOHUM00000241486 PGOHUM00000241932


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for H2BFWT (see all 106)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1468845931,2
    --103234564(+) TGGGTA/CCTTGC 1 -- ds50010--------
    rs1809171981,2
    --103234728(+) AGCCAC/TAGCTT 1 -- ds50010--------
    rs1406509251,2
    C--103234926(+) GTTAAC/TGCTGT 1 -- ds50010--------
    rs1858580201,2
    --103235093(+) GACAGA/GAAGAC 1 -- ut310--------
    rs1907697561,2
    --103235113(+) AAAGCA/GAAAAC 1 -- ut310--------
    rs1444343151,2
    --103235124(+) AATTAA/GCATAA 1 -- ut310--------
    rs1465737781,2
    C--103235156(+) AGATGC/TGGTGT 1 -- ut310--------
    rs134407791,2
    C,F,H--103235261(+) CCTGGC/AGGCAC 1 -- ut3110Minor allele frequency- A:0.08NS EA NA WA 1090
    rs1820661621,2
    --103235549(+) ACGGTC/TCTCTG 1 -- int10--------
    rs1502204871,2
    --103235854(+) TACTCA/GGGCGG 1 -- int10--------

    HapMap Linkage Disequilibrium report for H2BFWT (103265719 - 103268259 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for H2BFWT (see all 11):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv32549CNV Loss17666407
    esv22275CNV Gain19812545
    nsv519626CNV Gain19592680
    dgv2459e1CNV Complex17122850
    nsv469772CNV Complex16826518
    dgv2460e1CNV Complex17122850
    dgv63n47OTHER Inversion21111241
    nsv208OTHER Inversion15895083
    dgv5n1OTHER Inversion15895083
    esv1007027OTHER Inversion20482838

    Human Gene Mutation Database (HGMD): H2BFWT
    Locus Specific Mutation Databases (LSDB): H2BFWT

    Site Specific Mutation Identification with PCR Assays
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    (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.)
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    OMIM gene information: 300507    OMIM disorders: --

    2 diseases for H2BFWT:    
    About MalaCards
    male infertility    infertility

    1 disease from the University of Copenhagen DISEASES database for H2BFWT:
    Azoospermia

    Find genes that share disorders with H2BFWT           About GenesLikeMe

    Genetic Association Database (GAD): H2BFWT
    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)
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    PubMed articles for H2BFWT gene integrated from 10 sources:
    (articles sorted by number of sources associating them with H2BFWT)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Functional polymorphism in H2BFWT-5'UTR is associated with susceptibility to male infertility. (PubMed id 19583817)1, 4 Lee J....Lee S. (J. Cell. Mol. Med. 2009)
    2. 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. (Mol. Cell. Biol. 2006)
    3. 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. (Genome Res. 2004)
    4. Novel human testis-specific histone H2B encoded by the interrupted gene on the X chromosome. (PubMed id 15475252)1, 2 Churikov D.... Zalensky A. (Genomics 2004)
    5. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    6. 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. (Biomarkers 2012)
    7. The DNA sequence of the human X chromosome. (PubMed id 15772651)2 Ross M.T.... Bentley D.R. (Nature 2005)
    8. Male germline-specific histones in mouse and man. (PubMed id 15237208)1 Churikov D....Zalensky A.O. (Cytogenet. Genome Res. 2004)

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

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for H2BFWT Pharmacogenomics, SNPs, Pathways

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