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

H2AFY Gene

protein-coding   GIFtS: 56
GCID: GC05M134669

H2A histone family, member Y

 Explore 9 diseases affiliated with
H2AFY via our new
 Human Malady Compendium 
Biological research products
for H2AFY
    

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

Aliases
H2A Histone Family, Member Y1 2     H2AF12M2
MacroH2A1.21     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/Y1     Histone MacroH2A1.22
MH2A11     MACROH2A13
H2A.Y1     

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

Entrez Gene summary for H2AFY:
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)

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


(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_000005.9  NC_018916.1  NT_034772.6  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for H2AFY

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, 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: 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 SPOP. Part of a complex consisting of H2AFY, CUL3
and SPOP. Interacts with HDAC1 and HDAC2 (By similarity)
Subcellular location: Nucleus. Chromosome. Note=Enriched in inactive X chromosome chromatin and in
senescence-associated heterochromatin
Miscellaneous: The number of individuals with antibodies against this antigen is 2-fold higher in pediatric patients
with cancer compared to healthy controls
6/9 PDB 3D structures from and Proteopedia for H2AFY (see all 9):
1U35 (3D)        1ZR3 (3D)        1ZR5 (3D)        2F8N (3D)        2FXK (3D)        3HSV (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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O75367

  • H2AFY Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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  

    Human Recombinant Protein Products: 
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    OriGene Purified Protein: H2AFY
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    Novus Biologicals H2AFY Protein
    Novus Biologicals H2AFY Lysate
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for H2AFY

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

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


    H2AFY for ontologies           About GeneDecksing



    H2AFY Antibody Products: 
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    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for H2AFY


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

    H2AFY for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR009072 Histone-fold
     IPR002589 A1pp
     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 families:
    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


    (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: 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

    miRNA
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    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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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for H2AFY

    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    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


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

    Animal Models:
         Mouse knock-out H2afytm1Peh for H2AFY
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for H2afy):
     normal 

    H2AFY for phenotypes           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
    1ATF-2 transcription factor network
    ATF-2 transcription factor network1.00
    2Systemic lupus erythematosus
    Systemic lupus erythematosus1.00
    3Chromatin Regulation / Acetylation
    Chromatin Regulation / Acetylation1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


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

    1 BioSystems Pathway for H2AFY 
        ATF-2 transcription factor network


    1         Kegg Pathway  (Kegg details for H2AFY):
        Systemic lupus erythematosus


    H2AFY for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for H2AFY

    5/46 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 (GO ID links to tree view):    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 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 H2AFY
    Search CenterWatch for drugs/clinical trials and news about H2AFY / H2AY 

    (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 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
    18/20 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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    8/15 QIAGEN miScript miRNA 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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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for H2AFY (see all 7)
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    Additional cDNA sequence: 

    AK092789.1 BC045570.1 

    24/48 DOTS entries (see all 48):

    DT.100840236  DT.75173091  DT.92460030  DT.40275695  DT.95095529  DT.119946  DT.40115725  DT.444170 
    DT.101986415  DT.100887457  DT.92337776  DT.97762941  DT.100887453  DT.97860304  DT.40235411  DT.92460019 
    DT.92460032  DT.100887462  DT.120802211  DT.100887463  DT.119945  DT.92460020  DT.95095526  DT.91675072 

    10 AceView cDNA sequences:

    AA353890 BM684468 AI192048 BC045570 CF145353 AK092789 BE222348 BM930971 
    BI560542 BG720657 

    GeneLoc Exon Structure

    5/23 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™, 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

    H2AFY expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AATTTGCAAC

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

    About this image
    See H2AFY Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for H2AFY

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

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

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for H2AFY

    (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 animals.

    Orthologs for H2AFY gene from 6/17 species (see all 17)    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
    --
    96(a)
    1 ↔ 1
    GL343223.1(861339-919055)
    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 70.89(n)
    74.65(a)
      678613  NM_001040361.1  NP_001035451.1 
    worm
    (Caenorhabditis elegans)
    Secernentea htas-16
    --
    41(a)
    1 → many
    IV(9682967-9683515)


    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)
    About This Section
    Paralogs for H2AFY gene
    H2AFY22  HIST1H2AA2  H2AFV2  H2AFZ2  
    18/26 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, 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

    10/939 NCBI SNPs in H2AFY are shown (see all 939    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1118106841,2
    --129857727(+) GGGCAC/TAATAA 1 -- int11Minor allele frequency- T:0.50CSA 2
    rs802570171,2
    C,F,--129858019(+) GCTTCG/AGTGAC 1 -- int11Minor allele frequency- A:0.03EA 120
    rs1126188701,2
    --129858289(+) GATTTT/ATTTTT 1 -- int12Minor allele frequency- A:0.14CSA WA 120
    rs605872591,2
    F,--129858587(+) ACAGGC/TCACCT 1 -- int11Minor allele frequency- T:0.09WA 118
    rs1130889211,2
    --129858797(+) GTGTGC/TATTAA 1 -- int12Minor allele frequency- T:0.05CSA WA 120
    rs32151151,2
    C--129858821(+) AGTGTT/-AAGCT 1 -- int11Minor allele frequency- -:0.00CSA 2
    rs601425531,2
    --129859077(+) TATCAT/ACCAAG 1 -- int13Minor allele frequency- A:0.26CSA WA 121
    rs30791451,2
    F--129859104(+) GTTTG-/TTTG  
            
    AATCC
    1 -- int15Minor allele frequency- TTTG:0.06EU EA NA MN 430
    rs11054521,2
    C,F,H,--129859605(+) TGCATG/ACCTGT 1 -- int111Minor allele frequency- A:0.03EA NA NS WA 674
    rs11054531,2
    C,F,H,--129859707(+) CTTGTG/TACTTG 1 -- int111Minor allele frequency- A:0.00EA NA NS WA 662

    HapMap Linkage Disequilibrium report for H2AFY (134669590 - 134735604 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for H2AFY: --

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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.)
    About This Section

    H2AFY for disorders           About GeneDecksing

    OMIM gene information: 610054    OMIM disorders: --

    9 diseases for H2AFY:    About MalaCards
    medulloblastoma    x inactivation    systemic lupus erythematosus    childhood medulloblastoma
    lupus erythematosus    huntington's disease    immunodeficiency    melanoma
    malaria

    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)
    About This Section

    PubMed articles for H2AFY gene, integrated from 9 sources (see all 81):
    (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. (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. (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. (2006)
    4. Splicing regulates NAD metabolite binding to histone macroH2A. (PubMed id 15965484)1, 2, 9 Kustatscher G.... Ladurner A.G. (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. (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. (1998)
    7. Histone variant macroH2A1.2 is mono-ubiquitinated at its histone domain. (PubMed id 16129414)1, 2, 9 Ogawa Y.... Shibahara K. (2005)
    8. Mechanism of polymerase II transcription repression by the histone variant macroH2A. (PubMed id 16428466)1, 2 Doyen C.-M.... Dimitrov S. (2006)
    9. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    10. The macro domain is an ADP-ribose binding module. (PubMed id 15902274)1, 2 Karras G.I.... Ladurner A.G. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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      (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)
    About This Section
    Entrez Gene: 9555 HGNC: 4740 AceView: H2AFY.1 Ensembl:ENSG00000113648 euGenes: HUgn9555
    ECgene: H2AFY Kegg: 9555 H-InvDB: H2AFY

    (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 H2AFY 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 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



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