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HIST1H2AA Gene

protein-coding   GIFtS: 53
GCID: GC06M025726

Histone Cluster 1, H2aa

(Previous names: H2A histone family, member R, histone 1, H2aa)
  See HIST1H2AA-related disease
at
MalaCards
 

Aliases
for HIST1H2AA gene

(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
Histone Cluster 1, H2aa1 2     H2AA2 5
H2AFR2 3 5     bA317E16.22
H2A Histone Family, Member R1 2     Histone H2A Type 1-A2
Histone 1, H2aa1 2     HISTH2AA5
Histone H2A/R2 3     

External Ids:    HGNC: 187291   Entrez Gene: 2216132   Ensembl: ENSG000001645087   OMIM: 6134995   UniProtKB: Q96QV63   

Export aliases for HIST1H2AA gene to outside databases

Previous GC identifers: GC06M025784 GC06M025834 GC06M025669


Summaries
for HIST1H2AA gene

(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 HIST1H2AA 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 is intronless and encodes a member of the histone H2A family. Transcripts from this gene
contain a palindromic termination element. (provided by RefSeq, Jul 2008)

GeneCards Summary for HIST1H2AA Gene:
HIST1H2AA (histone cluster 1, H2aa) is a protein-coding gene. Diseases associated with HIST1H2AA include riddle syndrome. GO annotations related to this gene include protein heterodimerization activity. An important paralog of this gene is HIST3H2A.

UniProtKB/Swiss-Prot: H2A1A_HUMAN, Q96QV6
Function: Core component of nucleosome. 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

Gene Wiki entry for HIST1H2AA Gene


Genomic Views
for HIST1H2AA 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 at NCBI GenBank:
NC_000006.11  NC_018917.2  NT_007592.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the HIST1H2AA gene promoter:
         Max   E2F-1   E2F   POU2F1a   ZID   TGIF   Pax-4a   c-Myc   Arnt   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: HIST1H2AA promoter sequence
   Search Chromatin IP Primers for HIST1H2AA

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HIST1H2AA


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

Entrez Gene cytogenetic band: 6p22.2   Ensembl cytogenetic band:  6p22.2   HGNC cytogenetic band: 6p22.2

HIST1H2AA Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HIST1H2AA gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M025726:  view genomic region     (about GC identifiers)

Start:
 25,726,291 bp from pter      End:
 25,726,790 bp from pter
Size:
 500 bases      Orientation:
 minus strand

Proteins
for HIST1H2AA gene

(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: H2A1A_HUMAN, Q96QV6 (See protein sequence)
Recommended Name: Histone H2A type 1-A  
Size: 131 amino acids; 14234 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

Explore the universe of human proteins at neXtProt for HIST1H2AA: NX_Q96QV6

Explore proteomics data for HIST1H2AA at MOPED

Post-translational modifications: 

  • Deiminated on Arg-4 in granulocytes upon calcium entry1
  • Monoubiquitination of Lys-120 (H2AK119Ub) by RING1 and RNF2/RING2 complex gives a specific tag for epigenetic
    transcriptional repression and participates in X chromosome inactivation of female mammals. It is involved in the
    initiation of both imprinted and random X inactivation. Ubiquitinated H2A is enriched in inactive X chromosome
    chromatin. Ubiquitination of H2A functions downstream of methylation of 'Lys-27' of histone H3 (H3K27me).
    H2AK119Ub by RNF2/RING2 can also be induced by ultraviolet and may be involved in DNA repair. Following DNA
    double-strand breaks (DSBs), it is ubiquitinated through 'Lys-63' linkage of ubiquitin moieties by the E2 ligase
    UBE2N and the E3 ligases RNF8 and RNF168, leading to the recruitment of repair proteins to sites of DNA damage.
    Ubiquitination at Lys-14 and Lys-16 (H2AK13Ub and H2AK15Ub, respectively) in response to DNA damage is initiated
    by RNF168 that mediates monoubiquitination at these 2 sites, and 'Lys-63'-linked ubiquitin are then conjugated to
    monoubiquitin; RNF8 is able to extend 'Lys-63'-linked ubiquitin chains in vitro. H2AK119Ub and ionizing
    radiation-induced 'Lys-63'-linked ubiquitination (H2AK13Ub and H2AK15Ub) are distinct events1
  • Phosphorylation on Ser-2 (H2AS1ph) is enhanced during mitosis. Phosphorylation on Ser-2 by RPS6KA5/MSK1 directly
    represses transcription. Acetylation of H3 inhibits Ser-2 phosphorylation by RPS6KA5/MSK1. Phosphorylation at
    Thr-121 (H2AT120ph) by VPRBP is present in the regulatory region of many tumor suppresor genes and down-regulates
    their transcription1
  • Glutamine methylation at Gln-105 (H2AQ104me) by FBL is specifically dedicated to polymerase I. It is present at
    35S ribosomal DNA locus and impairs binding of the FACT complex (PubMed:24352239)1
  • Symmetric dimethylation on Arg-4 by the PRDM1/PRMT5 complex may play a crucial role in the germ-cell lineage (By
    similarity)1
  • Crotonylation (Kcr) is specifically present in male germ cells and marks testis-specific genes in post-meiotic
    cells, including X-linked genes that escape sex chromosome inactivation in haploid cells. Crotonylation marks
    active promoters and enhancers and confers resistance to transcriptional repressors. It is also associated with
    post-meiotically activated genes on autosomes1
  • Ubiquitination2 at Lys14, Lys16, Lys96, Lys119
  • Modification sites at PhosphoSitePlus

    • See HIST1H2AA Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_734466.1  
    ENSEMBL proteins: 
     ENSP00000297012  
    Reactome Protein details: Q96QV6

    HIST1H2AA Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for HIST1H2AA

         		 Search eBioscience for Proteins for HIST1H2AA 

         		antibodies-online proteins for HIST1H2AA (2 products) 

         		antibodies-online peptides for HIST1H2AA

    HIST1H2AA Antibody Products:

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    Cloud-Clone Corp. Antibodies for HIST1H2AA
    ThermoFisher Antibodies for HIST1H2AA
    antibodies-online antibodies for HIST1H2AA (10 products) 

    HIST1H2AA Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for HIST1H2AA
    Cloud-Clone Corp. CLIAs for HIST1H2AA
    Search eBioscience for ELISAs for HIST1H2AA 
    antibodies-online kits for HIST1H2AA (2 products) 

    Domains /
    Families
    for HIST1H2AA gene

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

    TryGeneCards Plus    		 HGNC Gene Families:
    HIST: Histones / Replication-dependent

    3 InterPro protein domains:
     IPR009072 Histone-fold
     IPR007125 Histone_core_D
     IPR002119 Histone_H2A

    Graphical View of Domain Structure for InterPro Entry Q96QV6

    ProtoNet protein and cluster: Q96QV6

    1 Blocks protein domain: IPB002119 Histone H2A

    UniProtKB/Swiss-Prot: H2A1A_HUMAN, Q96QV6
    Similarity: Belongs to the histone H2A family


    Find genes that share domains with HIST1H2AA           About GenesLikeMe


    Function
    for HIST1H2AA gene

    (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: H2A1A_HUMAN, Q96QV6
    Function: Core component of nucleosome. 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

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0043565sequence-specific DNA binding ----
    GO:0046982protein heterodimerization activity IEA--
         
    Find genes that share ontologies with HIST1H2AA           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for HIST1H2AA:
     Synthetic lethal with Ras 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for HIST1H2AA

    miRNA
    Products:            		miRTarBase miRNAs that target HIST1H2AA:
    hsa-mir-34a-5p (MIRT025388)

    Block miRNA regulation of human, mouse, rat HIST1H2AA using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate HIST1H2AA:
    hsa-miR-146a* hsa-miR-1276
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:            		OriGene RNAi products in human, mouse, rat for HIST1H2AA
    Predesigned siRNA for gene silencing in human, mouse, rat HIST1H2AA

    Gene Editing
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    Clone
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    OriGene ORF clones in mouse, rat for HIST1H2AA
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    GenScript: all cDNA clones in your preferred vector: HIST1H2AA (NM_170745)
    Sino Biological Human cDNA Clone for HIST1H2AA
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    Cell Line
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    In Situ Assay
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    Localization
    for HIST1H2AA gene

    (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
    H2A1A_HUMAN, Q96QV6: Nucleus. Chromosome
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000786nucleosome IEA--
    GO:0005622intracellular ----
    GO:0005634nucleus IEA--

    Find genes that share ontologies with HIST1H2AA           About GenesLikeMe


    Pathways & Interactions
    for HIST1H2AA gene

    (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 HIST1H2AA About    
    See pathways by source

    		      Powered
    by    		     
    SuperPathContained pathways About
    1RNA Polymerase I Promoter Opening
    		Systemic lupus erythematosus0.40
    		HATs acetylate histones0.34
    		Chromatin organization0.34
    		Alcoholism0.34
    		Chromatin modifying enzymes0.34
    2Chromatin Regulation / Acetylation
    		Chromatin Regulation / Acetylation


    Find genes that share SuperPaths with HIST1H2AA           About GenesLikeMe

    Pathways by source                                   See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for HIST1H2AA
        Chromatin Regulation / Acetylation


    1 Reactome Pathway for HIST1H2AA
        HATs acetylate histones


    2 Kegg Pathways  (Kegg details for HIST1H2AA):
        Alcoholism
    Systemic lupus erythematosus

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for HIST1H2AA
    Interactions:

        Search GeneGlobe Interaction Network for HIST1H2AA

    STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

    Selected Interacting proteins for HIST1H2AA (Q96QV62, 3 ENSP000002970124) via UniProtKB, MINT, STRING, and/or I2D (see all 39)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BRD7Q9NPI12, 3, ENSP000003781804MINT-6665450 I2D: score=1 STRING: ENSP00000378180
    UBCP0CG482, ENSP000003448184MINT-7891787 STRING: ENSP00000344818
    RAD18Q9NS913, ENSP000002649264I2D: score=1 STRING: ENSP00000264926
    DOT1LQ8TEK33, ENSP000003816574I2D: score=1 STRING: ENSP00000381657
    TFAP2BQ924813I2D: score=1 
    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 HIST1H2AA           About GenesLikeMe



    Drugs & Compounds
    for HIST1H2AA gene

    (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)
    About This Section

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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 HIST1H2AA (H2A1A)

    1 HMDB Compound for HIST1H2AA    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--



    Transcripts
    for HIST1H2AA gene

    (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 )
    About This Section

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    REFSEQ mRNAs for HIST1H2AA gene: 
    NM_170745.3  

    Unigene Cluster for HIST1H2AA:

    Histone cluster 1, H2aa
    Hs.406739  [show with all ESTs]
    Unigene Representative Sequence: BU567795
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000297012(uc003nfc.3)
    miRNA
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    hsa-miR-146a* hsa-miR-1276
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HIST1H2AA
      QuantiTect SYBR Green Assays in human, mouse, rat HIST1H2AA
      QuantiFast Probe-based Assays in human, mouse, rat HIST1H2AA

    Additional mRNA sequence: BC062211.1 

    1 DOTS entry:

    DT.75190550 

    Selected AceView cDNA sequences (see all 42):

    AA004989 AI768648 AW000949 AW779672 NM_170745 BX106560 N53056 AI640281 
    Y10513 CB163564 BX106481 BX506428 CB163294 AL700122 BG054690 BC062211 
    BU567795 AI522108 X71355 AI262144 N73241 AI433406 AW195710 NM_005074 

    GeneLoc Exon Structure


    Expression
    for HIST1H2AA gene

    (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)
    About This Section

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    HIST1H2AA expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    HIST1H2AA Expression
    About this image


    HIST1H2AA expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
    HIST1H2AA Protein expression data from MOPED1, PaxDb2 and MaxQB3:     About this image

    HIST1H2AA Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.406739
        Custom PCR Arrays for HIST1H2AA
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    In Situ
    Assay Products:     
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    Orthologs
    for HIST1H2AA gene

    (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

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    This gene was present in the common ancestor of chordates.

    Orthologs for HIST1H2AA gene from Selected species (see all 7)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Hist1h2aa5
    Hist1h2ak1    		 histone cluster 1, H2aa5
    histone cluster 1, H2ak1    		 78.46(n)1
    92.31(a)1    		   13 (10.00 cM)5
    3191691  NM_178183.11  NP_835490.11 
     239344625 
    lizard
    (Anolis carolinensis)    		 Reptilia --
    		 --
    		 85(a)
    		 many ↔ many
    		 2(164703263-164703927)
    tropical clawed frog
    (Xenopus tropicalis)    		 Amphibia 1377261882   -- 76.69(n)    137726188 
    zebrafish
    (Danio rerio)    		 Actinopterygii zgc:1630476
    zgc:1018466
    (see all 13)    		 zgc:101846
    (see all 13)    		 91(a)
    91(a)
    (see all 13)    		 many ↔ many
    many ↔ many
    (see all 13)    		 7(7241510-7241893) ENSDARG00000094931
    10(30724438-30725346) ENSDARG00000068995


    ENSEMBL Gene Tree for HIST1H2AA (if available)
    TreeFam Gene Tree for HIST1H2AA (if available)

    Paralogs
    for HIST1H2AA gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HIST1H2AA gene
    HIST3H2A2  HIST1H2AD2  HIST2H2AA32  HIST2H2AB2  H2AFX2  HIST1H2AI2  HIST1H2AG2  HIST1H2AC2  
    HIST1H2AH2  HIST1H2AM2  HIST1H2AJ2  HIST2H2AA42  HIST1H2AE2  HIST1H2AB2  HIST2H2AC2  HIST1H2AK2  
    HIST1H2AL2  H2AFJ2  
    Selected SIMAP similar genes for HIST1H2AA using alignment to 1 protein entry:     H2A1A_HUMAN(see all similar genes):
    HIST2H2AB    H2AFX    HIST1H2AB    HIST1H2AC    HIST1H2AD    HIST1H2AE
    HIST1H2AG    HIST1H2AI    HIST1H2AJ    HIST1H2AK    HIST1H2AL    HIST1H2AM
    HIST2H2AA3    HIST2H2AA4    HIST3H2A    H2AFJ    HIST1H2AH    HIST2H2AC

    Find genes that share paralogs with HIST1H2AA           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for HIST1H2AA
    PGOHUM00000243516


    Genomic Variants
    for HIST1H2AA gene

    (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)
    About This Section

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    Selected SNPs for HIST1H2AA (see all 15)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 6 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs93569851,2
    		C,F,A--25728098(+) AAAATC/TAGGTG 1 -- us2k15Minor allele frequency- T:0.37NA WA EA 362
    rs1401866591,2
    		--25728107(+) TGGGCA/GTGGTG 1 -- us2k10--------
    rs1830085911,2
    		C--25728127(+) GTAGTC/GCCAGC 1 -- us2k10--------
    rs77469441,2
    		C,F,A,H--25728176(+) GGAGCC/TGGAGA 1 -- us2k17Minor allele frequency- T:0.17NA WA CSA EA 250
    rs340675421,2
    		C--25728210(+) TGCACT/AACAGC 1 -- us2k13Minor allele frequency- A:0.23NA EA 242
    rs356707311,2
    		C,F--25728235(+) ACTGTC/TTCAAA 1 -- us2k13Minor allele frequency- T:0.23NA EA 242
    rs1503046771,2
    		--25728279(+) AAGCTA/GCATGC 1 -- us2k10--------
    rs1378775861,2
    		--25728325(+) ATAAAA/GCTAAA 1 -- us2k10--------
    rs1418758531,2
    		C--25728469(+) CTGGAA/GAACTC 1 -- us2k10--------
    rs1870159441,2
    		--25728644(+) CTTCCA/TGGAAA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for HIST1H2AA (25726291 - 25726790 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for HIST1H2AA:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv883488CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing HIST1H2AA
    DNA2.0 Custom Variant and Variant Library Synthesis for HIST1H2AA

    Disorders / Diseases
    for HIST1H2AA gene

    (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

    TryGeneCards Plus    		 OMIM gene information: 613499    OMIM disorders: --

    1 disease for HIST1H2AA:    
    About MalaCards
    riddle syndrome


    Find genes that share disorders with HIST1H2AA           About GenesLikeMe


    Export disorders for HIST1H2AA gene to outside databases

    Publications
    for HIST1H2AA gene

    (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 HIST1H2AA gene, integrated from 10 sources (see all 43):
    (articles sorted by number of sources associating them with HIST1H2AA)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. The human and mouse replication-dependent histone genes. (PubMed id 12408966)1, 2, 3 Marzluff W.F.... Maltais L.J. (Genomics 2002)
    2. DNA damage triggers nucleotide excision repair-dependent monoubiquitylation of histone H2A. (PubMed id 16702407)1, 2 Bergink S.... Dantuma N.P. (Genes Dev. 2006)
    3. Deimination of histone H2A and H4 at arginine 3 in HL-60 granulocytes. (PubMed id 15823041)1, 2 Hagiwara T.... Yamada M. (Biochemistry 2005)
    4. Role of Bmi-1 and Ring1A in H2A ubiquitylation and Hox gene silencing. (PubMed id 16359901)1, 2 Cao R.... Zhang Y. (Mol. Cell 2005)
    5. Role of histone H2A ubiquitination in Polycomb silencing. (PubMed id 15386022)1, 2 Wang H.... Zhang Y. (Nature 2004)
    6. Phosphorylation of histone H2A inhibits transcription on chromatin templates. (PubMed id 15010469)1, 2 Zhang Y.... Parvin J.D. (J. Biol. Chem. 2004)
    7. Nucleosomal histone kinase-1 phosphorylates H2A Thr 119 during mitosis in the early Drosophila embryo. (PubMed id 15078818)1, 2 Aihara H.... Ito T. (Genes Dev. 2004)
    8. 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)
    9. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)
    10. Glutamine methylation in histone H2A is an RNA-polymerase-I-dedicated modification. (PubMed id 24352239)2 Tessarz P.... Kouzarides T. (Nature 2014)

    External Searches for HIST1H2AA gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

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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)

    Genome Databases showing HIST1H2AA gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 221613 HGNC: 18729 AceView: SLC17A1andHIST1H2AA Ensembl:ENSG00000164508 euGenes: HUgn221613
    ECgene: HIST1H2AA Kegg: 221613 H-InvDB: HIST1H2AA

    Other Databases showing HIST1H2AA gene

    (According to HUGE)
    About This Section

    TryGeneCards Plus    		   --

    Specialized Databases showing HIST1H2AA gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for HIST1H2AA Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for HIST1H2AA gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus    		Patent Information for HIST1H2AA gene:
    Search GeneIP for patents involving HIST1H2AA

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



    Products
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