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H2AFY Gene

protein-coding   GIFtS: 60
GCID: GC05M134669

H2A Histone Family, Member Y

Pneumococci & Pneumococcal Diseases Congress
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(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
H2A Histone Family, Member Y1 2     H2AFJ2
Histone H2A.Y2 3     MACROH2A1.12
Histone MacroH2A12 3     Core Histone Macro-H2A.12
Medulloblastoma Antigen MU-MB-50.2052 3     Histone MacroH2A1.12
H2A/y2 3     Histone MacroH2A1.22
mH2A12 3     macroH2A1.22
H2A.y2     MACROH2A13
H2AF12M2     MH2A15

External Ids:    HGNC: 47401   Entrez Gene: 95552   Ensembl: ENSG000001136487   OMIM: 6100545   UniProtKB: O753673   

Export aliases for H2AFY gene to outside databases

Previous GC identifers: GC05M134322 GC05M135237 GC05M134700 GC05M134746 GC05M134697 GC05M129857


(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 H2AFY Gene:
Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in
eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs
of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the
interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin
structures. This gene encodes a member of the histone H2A family. It replaces conventional H2A histones in a
subset of nucleosomes where it represses transcription and participates in stable X chromosome inactivation.
Alternative splicing results in multiple transcript variants encoding different isoforms. (provided by RefSeq,
Jul 2008)

GeneCards Summary for H2AFY Gene:
H2AFY (H2A histone family, member Y) is a protein-coding gene. Diseases associated with H2AFY include childhood medulloblastoma, and medulloblastoma. GO annotations related to this gene include chromatin binding and protein heterodimerization activity. An important paralog of this gene is H2AFB1.

UniProtKB/Swiss-Prot: H2AY_HUMAN, O75367
Function: Variant histone H2A which replaces conventional H2A in a subset of nucleosomes where it represses
transcription. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular
machineries which require DNA as a template. Histones thereby play a central role in transcription regulation,
DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of
post-translational modifications of histones, also called histone code, and nucleosome remodeling. Involved in
stable X chromosome inactivation. Inhibits the binding of transcription factors and interferes with the activity
of remodeling SWI/SNF complexes. Inhibits histone acetylation by EP300 and recruits class I HDACs, which induces
a hypoacetylated state of chromatin. In addition, isoform 1, but not isoform 2, binds ADP-ribose and
O-acetyl-ADP-ribose, and may be involved in ADP-ribose-mediated chromatin modulation

Gene Wiki entry for H2AFY Gene


(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:
NC_000005.10  NT_034772.7  NC_018916.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the H2AFY gene promoter:
         S8   AML1a   SEF-1 (1)   CUTL1   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): H2AFY promoter sequence
   Search Chromatin IP Primers for H2AFY

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat H2AFY


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

Entrez Gene cytogenetic band: 5q31.1   Ensembl cytogenetic band:  5q31.1   HGNC cytogenetic band: 5q31.1

H2AFY Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
H2AFY gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M134669:  view genomic region     (about GC identifiers)

Start:
134,669,590 bp from pter      End:
134,735,604 bp from pter
Size:
66,015 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: H2AY_HUMAN, O75367 (See protein sequence)
Recommended Name: Core histone macro-H2A.1  
Size: 372 amino acids; 39617 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. Interacts with HDAC1 and HDAC2 (By similarity). Interacts with
SPOP. Part of a complex consisting of H2AFY, CUL3 and SPOP
Miscellaneous: The number of individuals with antibodies against this antigen is 2-fold higher in pediatric
patients with cancer compared to healthy controls
Selected PDB 3D structures from and Proteopedia for H2AFY (see all 10):
1U35 (3D)        1ZR3 (3D)        1ZR5 (3D)        2F8N (3D)        2FXK (3D)        3HQH (3D)    
Secondary accessions: O75377 Q503A8 Q7Z5E3 Q96D41 Q9H8P3 Q9UP96
Alternative splicing: 3 isoforms:  O75367-1   O75367-2   O75367-3   (Specifically binds ADP-ribose and O-acetyl-ADP-ribose. Important residues for binding are Asp-203, Gly-224, Gly-314 and Phe-348)

Explore the universe of human proteins at neXtProt for H2AFY: NX_O75367

Explore proteomics data for H2AFY at MOPED

Post-translational modifications: 

  • Monoubiquitinated at either Lys-116 or Lys-117. May also be polyubiquitinated. Ubiquitination is mediated by the
    CUL3/SPOP E3 complex and does not promote proteasomal degradation. Instead, it is required for enrichment in
    inactive X chromosome chromatin1
  • Ubiquitination2 at Lys116, Lys117, Lys123, Lys189, Lys251, Lys285, Lys292, Lys295, Lys307, Lys323
  • Modification sites at PhosphoSitePlus

  • See H2AFY Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001035248.1  NP_004884.1  NP_613075.1  NP_613258.2  

    ENSEMBL proteins: 
     ENSP00000423563   ENSP00000302572   ENSP00000310169   ENSP00000423718   ENSP00000415121  
     ENSP00000424971  

    H2AFY Human Recombinant Protein Products:

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    Novus Biologicals H2AFY Protein
    Novus Biologicals H2AFY Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for H2AFY

    H2AFY Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of H2AFY
    Browse R&D Systems for Antibodies
    Cell Signaling Technology (CST) Antibodies for H2AFY 
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for H2AFY
    Novus Biologicals H2AFY Antibodies
    Abcam antibodies for H2AFY
    Cloud-Clone Corp. Antibodies for H2AFY
    Search ThermoFisher Antibodies for H2AFY
    LSBio Antibodies in human, mouse, rat for H2AFY

    H2AFY Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for H2AFY
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for H2AFY
    Cloud-Clone Corp. CLIAs for H2AFY


    (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

    5 InterPro protein domains:
     IPR009072 Histone-fold
     IPR002589 Macro_dom
     IPR007125 Histone_core_D
     IPR002119 Histone_H2A
     IPR021171 Core_histone_macro-H2A

    Graphical View of Domain Structure for InterPro Entry O75367

    ProtoNet protein and cluster: O75367

    2 Blocks protein domains:
    IPB002119 Histone H2A
    IPB002589 Protein of unknown function Appr-1


    UniProtKB/Swiss-Prot: H2AY_HUMAN, O75367
    Similarity: Contains 1 histone H2A domain
    Similarity: Contains 1 Macro domain


    H2AFY for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: H2AY_HUMAN, O75367
    Function: Variant histone H2A which replaces conventional H2A in a subset of nucleosomes where it represses
    transcription. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular
    machineries which require DNA as a template. Histones thereby play a central role in transcription regulation,
    DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of
    post-translational modifications of histones, also called histone code, and nucleosome remodeling. Involved in
    stable X chromosome inactivation. Inhibits the binding of transcription factors and interferes with the activity
    of remodeling SWI/SNF complexes. Inhibits histone acetylation by EP300 and recruits class I HDACs, which induces
    a hypoacetylated state of chromatin. In addition, isoform 1, but not isoform 2, binds ADP-ribose and
    O-acetyl-ADP-ribose, and may be involved in ADP-ribose-mediated chromatin modulation

         Genatlas biochemistry entry for H2AFY:
    core histone family H2A,replacement subtype replication independent protein,species H2A-Z

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding NAS9714746
    GO:0003682chromatin binding IEA--
    GO:0005515protein binding IPI--
    GO:0046982protein heterodimerization activity IEA--
         
    H2AFY for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for H2AFY:
     Increased cell death in breast 

         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for H2afy):
     liver/biliary system  mortality/aging  normal 

    H2AFY for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for H2AFY: H2afytm1Mbou H2afytm1Peh

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for H2AFY
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for H2AFY

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for H2AFY
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for H2AFY

    miRNA
    Products:
        
    miRTarBase miRNAs that target H2AFY:
    hsa-mir-148b-3p (MIRT043582), hsa-mir-484 (MIRT041638), hsa-mir-100-5p (MIRT048478), hsa-mir-155-5p (MIRT020724), hsa-mir-181a-5p (MIRT047331), hsa-mir-615-3p (MIRT040181)

    Block miRNA regulation of human, mouse, rat H2AFY using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate H2AFY (see all 15):
    hsa-miR-3163 hsa-miR-548p hsa-miR-520d-5p hsa-miR-148b hsa-miR-29c hsa-miR-29a hsa-miR-3617 hsa-miR-551b*
    SwitchGear 3'UTR luciferase reporter plasmidH2AFY 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for H2AFY
    Predesigned siRNA for gene silencing in human, mouse, rat H2AFY

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for H2AFY

    Clone
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    OriGene clones in human, mouse for H2AFY (see all 26)
    OriGene ORF clones in mouse, rat for H2AFY
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): H2AFY (NM_138609)
    Sino Biological Human cDNA Clone for H2AFY
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for H2AFY
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat H2AFY

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for H2AFY 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for H2AFY


    (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
    H2AY_HUMAN, O75367: Nucleus. Chromosome. Note=Enriched in inactive X chromosome chromatin and in
    senescence-associated heterochromatin
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    mitochondrion3
    cytosol2

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000786nucleosome NAS9714746
    GO:0000793condensed chromosome IEA--
    GO:0001739sex chromatin TAS19486527
    GO:0001740Barr body IDA11331621
    GO:0005634nucleus ----

    H2AFY for ontologies           About GeneDecksing


    (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 H2AFY About                                                                                                See pathways by source

    SuperPathContained pathways About
    1RNA Polymerase I Promoter Opening
    Systemic lupus erythematosus0.40
    Alcoholism0.34
    2Chromatin Regulation / Acetylation
    Chromatin Regulation / Acetylation
    3ATF-2 transcription factor network
    ATF-2 transcription factor network

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for H2AFY
        Chromatin Regulation / Acetylation

    1 BioSystems Pathway for H2AFY
        ATF-2 transcription factor network



    2 Kegg Pathways  (Kegg details for H2AFY):
        Alcoholism
    Systemic lupus erythematosus


    H2AFY for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for H2AFY
    Interactions:

        GeneGlobe Interaction Network for H2AFY

    Selected Interacting proteins for H2AFY (O753671, 2, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 46)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    HIST1H4EP628053I2D: score=1 
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006334nucleosome assembly NAS9714746
    GO:0007549dosage compensation IDA15053874
    GO:0016568chromatin modification IEA--

    H2AFY for ontologies           About GeneDecksing



    (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 H2AFY (H2AY)



    (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,
    Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for H2AFY gene (4 alternative transcripts): 
    NM_001040158.1  NM_004893.2  NM_138609.2  NM_138610.2  

    Unigene Clusters for H2AFY:

    H2A histone family, member Y
    Hs.420272  [show with all ESTs], Hs.599225  [show with all ESTs]
    Unigene Representative Sequences: AB209490, AK092789
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    ENST00000511689(uc003lam.1 uc003lao.1 uc011cxz.1) ENST00000451949(uc003lal.1)
    ENST00000512507 ENST00000304332(uc003las.1 uc003lat.1) ENST00000312469(uc003lan.1)
    ENST00000360597 ENST00000511494 ENST00000506671 ENST00000423969 ENST00000510038
    ENST00000505827 ENST00000513268 ENST00000507868 ENST00000508785 ENST00000513210
    ENST00000504197 ENST00000508120 ENST00000506532

    miRNA
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    Block miRNA regulation of human, mouse, rat H2AFY using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate H2AFY (see all 15):
    hsa-miR-3163 hsa-miR-548p hsa-miR-520d-5p hsa-miR-148b hsa-miR-29c hsa-miR-29a hsa-miR-3617 hsa-miR-551b*
    SwitchGear 3'UTR luciferase reporter plasmidH2AFY 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat H2AFY
    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 4): H2AFY (NM_138609)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for H2AFY
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat H2AFY
    Primer
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    OriGene qPCR primer pairs and template standards for H2AFY
    OriGene qSTAR qPCR primer pairs in human, mouse for H2AFY
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat H2AFY
      QuantiTect SYBR Green Assays in human, mouse, rat H2AFY
      QuantiFast Probe-based Assays in human, mouse, rat H2AFY

    Additional mRNA sequence: 

    AK092789.1 BC045570.1 

    Selected DOTS entries (see all 45):

    DT.100840236  DT.75173091  DT.92460030  DT.119946  DT.40275695  DT.444170  DT.100887457  DT.40115725 
    DT.95095529  DT.92337776  DT.101986415  DT.97860304  DT.100887453  DT.40235411  DT.92460019  DT.100887462 
    DT.97762941  DT.100887463  DT.120802211  DT.92460020  DT.119945  DT.91675072  DT.92460032  DT.120802203 

    10 AceView cDNA sequences:

    AA353890 BM684468 AI192048 BM930971 CF145353 BE222348 AK092789 BC045570 
    BI560542 BG720657 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for H2AFY (see all 23)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3a · 3b · 3c · 3d · 3e ^ 4a · 4b · 4c · 4d ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b · 7c · 7d ^ 8 ^ 9 ^
    SP1:                                            -                                                                             -                 -     -     -   
    SP2:                                                                                                                          -                 -     -     -   
    SP3:                                            -                                                                             -                 -     -     -   
    SP4:                                            -                                                                             -                 -     -     -   
    SP5:                                            -                                                                             -                 -     -     -   

    ExUns: 10 ^ 11 ^ 12a · 12b ^ 13a · 13b · 13c · 13d ^ 14
    SP1:        -                                             
    SP2:        -                                             
    SP3:        -                                             
    SP4:  -                                                   
    SP5:  -     -                                             


    ECgene alternative splicing isoforms for H2AFY

    (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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    H2AFY expression in normal human tissues (normalized intensities)      H2AFY embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATTTGCAAC
    H2AFY Expression
    About this image


    H2AFY expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 24) fully expand
     
     Brain (Nervous System)    fully expand to see all 10 entries
             Thalamus
     
     Neural Tube (Nervous System)    fully expand to see all 4 entries
             Telencephalon
             Floor plate-like cells
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Thymus (Hematopoietic System)
             Thymus
     
     Neural Ectoderm (Nervous System)
             Neural ectoderm cells
    H2AFY Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    H2AFY Protein Expression

    SOURCE GeneReport for Unigene clusters: Hs.420272 Hs.599225

    UniProtKB/Swiss-Prot: H2AY_HUMAN, O75367
    Tissue specificity: Ubiquitous

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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 H2AFY gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia H2afy1 , 5 H2A histone family, member Y1, 5 90.68(n)1
    98.39(a)1
      13 (30.06 cM)5
    269141  NM_012015.21  NP_036145.11 
     560736195 
    chicken
    (Gallus gallus)
    Aves H2AFY1 H2A histone family, member Y 85.39(n)
    97.04(a)
      395858  NM_205007.1  NP_990338.1 
    lizard
    (Anolis carolinensis)
    Reptilia H2AFY6
    H2A histone family, member Y
    96(a)
    1 ↔ 1
    GL343223.1(861339-919095)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.90882 Transcribed sequence with moderate similarity to protein more 78.79(n)    CF376889.1 
    zebrafish
    (Danio rerio)
    Actinopterygii h2afy1 H2A histone family, member Y 70.7(n)
    73.8(a)
      678613  NM_001040361.1  NP_001035451.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta His2A:CG338296
    His2A:CG338236
    (see all 20)
    His2A:CG33823
    (see all 20)
    64(a)
    64(a)
    (see all 20)
    many → 1
    many → 1
    (see all 20)
    2L(21478201-21478769)
    2L(21468115-21468683)
    worm
    (Caenorhabditis elegans)
    Secernentea his-436
    his-616
    (see all 17)
    Protein HIS-61 (his-61) mRNA, complete cds
    (see all 17)
    63(a)
    63(a)
    (see all 17)
    many → 1
    many → 1
    (see all 17)
    II(13827326-13827709) WBGene00001917
    IV(7485748-7486217) WBGene00001935
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes HTA16
    HTA26
    Histone H2A, core histone protein required for chr...
    Histone H2A, core histone protein required for chr...
    59(a)
    59(a)
    many → 1
    many → 1
    IV(915530-915928) YDR225W
    II(235394-235792) YBL003C


    ENSEMBL Gene Tree for H2AFY (if available)
    TreeFam Gene Tree for H2AFY (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for H2AFY gene
    H2AFB12  H2AFY22  H2AFB22  H2AFB32  
    Selected SIMAP similar genes for H2AFY using alignment to 3 protein entries:     H2AY_HUMAN (see all proteins) (see all similar genes):
    HIST1H2AA    H2AFJ    H2AFY2    HIST1H2AB    HIST1H2AD    HIST1H2AE
    HIST3H2A    HIST2H2AB    HIST2H2AC    HIST1H2AC    HIST1H2AG    HIST1H2AH
    HIST1H2AI    HIST1H2AJ    HIST1H2AK    HIST1H2AL    HIST1H2AM    HIST1H2APS4

    H2AFY for paralogs           About GeneDecksing



    (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 H2AFY (see all 921)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs794856771,2
    C,F--134680878(+) CCTGGA/CAGGGG 4 -- int11Minor allele frequency- C:0.04EA 120
    rs1834533771,2
    --134681187(+) CTTAGC/GAATAA 4 -- int10--------
    rs1393612241,2
    C--134681217(+) CAAGTC/TGTTTT 4 -- int10--------
    rs1474753481,2
    C--134681453(+) GTAAT-/AAAAAA 4 -- int10--------
    rs1431647371,2
    C--134681791(+) GTCTCC/TGGCAC 4 -- int10--------
    rs1475225511,2
    C--134681792(+) TCTCCA/GGCACA 4 -- int10--------
    rs1868201171,2
    --134681821(+) CAGGTA/GATTAC 4 -- int10--------
    rs171681711,2
    C,F,H--134681852(+) AATTTC/TCATCA 4 -- int115Minor allele frequency- T:0.01NA NS EA 1374
    rs1497017111,2
    --134681987(+) GGTCTC/GACTCA 4 -- int10--------
    rs1444302311,2
    --134682212(+) TCTCCC/TCCTGG 4 -- int10--------

    HapMap Linkage Disequilibrium report for H2AFY (134669590 - 134735604 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for H2AFY:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv5015CNV Insertion18451855
    nsv830496CNV Gain17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing H2AFY
    DNA2.0 Custom Variant and Variant Library Synthesis for H2AFY

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 610054    OMIM disorders: --

    18 diseases for H2AFY:    About MalaCards
    childhood medulloblastoma    medulloblastoma    labyrinthitis    huntington's disease
    systemic lupus erythematosus    lupus erythematosus    hiv-1    ataxia
    tonsillitis    obesity    neuroblastoma    melanoma
    cerebritis    hepatocellular carcinoma    lung cancer    thyroiditis
    endotheliitis    neuronitis


    H2AFY for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Genetic Association Database (GAD): H2AFY
    Human Genome Epidemiology (HuGE) Navigator: H2AFY (3 documents)

    Export disorders for H2AFY 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 H2AFY gene, integrated from 10 sources (see all 91):
    (articles sorted by number of sources associating them with H2AFY)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation of cDNA clones encoding human histone macroH2A1 subtypes. (PubMed id 9714746)1, 2, 3, 9 Lee Y.... Choe I.S. (Biochim. Biophys. Acta 1998)
    2. Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full- length cDNA cloning. (PubMed id 9653160)1, 2, 3 Mao M.... Chen Z. (Proc. Natl. Acad. Sci. U.S.A. 1998)
    3. Mapping post-translational modifications of the histone variant MacroH2A1 using tandem mass spectrometry. (PubMed id 16210244)1, 2, 9 Chu F....Burlingame A.L. (Mol. Cell. Proteomics 2006)
    4. Splicing regulates NAD metabolite binding to histone macroH2A. (PubMed id 15965484)1, 2, 9 Kustatscher G.... Ladurner A.G. (Nat. Struct. Mol. Biol. 2005)
    5. Stable X chromosome inactivation involves the PRC1 Polycomb complex and requires histone MACROH2A1 and the CULLIN3/SPOP ubiquitin E3 ligase. (PubMed id 15897469)1, 2, 9 Hernandez-Munoz I....van Lohuizen M. (Proc. Natl. Acad. Sci. U.S.A. 2005)
    6. Histone macroH2A1 is concentrated in the inactive X chromosome of female mammals. (PubMed id 9634239)1, 2, 9 Costanzi C. and Pehrson J.R. (Nature 1998)
    7. Histone variant macroH2A1.2 is mono-ubiquitinated at its histone domain. (PubMed id 16129414)1, 2, 9 Ogawa Y.... Shibahara K. (Biochem. Biophys. Res. Commun. 2005)
    8. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PubMed id 20201926)1, 4 Joslyn G....White R.L. (Alcohol. Clin. Exp. Res. 2010)
    9. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    10. Association of autism with polymorphisms in the paired-like homeodomain transcription factor 1 (PITX1) on chromosome 5q31: a candidate gene analysis. (PubMed id 18053270)1, 4 Philippi A....Hager J. (BMC Med. Genet. 2007)

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

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 9555 HGNC: 4740 AceView: H2AFY.1 Ensembl:ENSG00000113648 euGenes: HUgn9555
    ECgene: H2AFY Kegg: 9555 H-InvDB: H2AFY

    (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 H2AFY Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for H2AFY gene:
    Search GeneIP for patents involving H2AFY

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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