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

HIST1H2AH Gene

protein-coding   GIFtS: 49
GCID: GC06P027114

Histone Cluster 1, H2ah

(Previous names: histone 1, H2ah)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Histone Cluster 1, H2ah1 2     H2AH2
Histone H2A/S2 3     dJ86C11.12
Histone 1, H2ah1     H2A Histone Family Member2
H2A/S2     Histone H2A Type 1-H2
H2AFALii2     HIST1H2AI3

External Ids:    HGNC: 136711   Entrez Gene: 852352   Ensembl: ENSG000001848257   OMIM: 6150135   UniProtKB: Q96KK53   

Export aliases for HIST1H2AH gene to outside databases

Previous GC identifers: GC06P027172 GC06P027222 GC06P026922


(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 HIST1H2AH Gene:
Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in
eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which
approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts
with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures.
This gene is intronless and encodes a member of the histone H2A family. Transcripts from this gene lack polyA
tails but instead contain a palindromic termination element. This gene is found in the histone microcluster on
chromosome 6p21.33. (provided by RefSeq, Jul 2008)

GeneCards Summary for HIST1H2AH Gene: 
HIST1H2AH (histone cluster 1, H2ah) is a protein-coding gene. Diseases associated with HIST1H2AH include riddle syndrome, and systemic lupus erythematosus, and among its related super-pathways are Systemic lupus erythematosus. GO annotations related to this gene include DNA binding and protein heterodimerization activity. An important paralog of this gene is HIST3H2A.

UniProtKB/Swiss-Prot: H2A1H_HUMAN, Q96KK5
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 HIST1H2AH 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.2  NT_007592.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HIST1H2AH gene promoter:
         AML1a   Pax-5   HTF   GCNF   MIF-1   GCNF-1   FOXO4   GCNF-2   MRF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHIST1H2AH promoter sequence
   Search SABiosciences Chromatin IP Primers for HIST1H2AH

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HIST1H2AH


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

Entrez Gene cytogenetic band: 6p21.33   Ensembl cytogenetic band:  6p22.1   HGNC cytogenetic band: 6p22.1

HIST1H2AH Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HIST1H2AH gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P027114:  view genomic region     (about GC identifiers)

Start:
27,114,861 bp from pter      End:
27,115,346 bp from pter
Size:
486 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: H2A1H_HUMAN, Q96KK5 (See protein sequence)
Recommended Name: Histone H2A type 1-H  
Size: 128 amino acids; 13906 Da
Subunit: The nucleosome is a histone octamer containing two molecules each of H2A, H2B, H3 and H4 assembled in one
H3-H4 heterotetramer and two H2A-H2B heterodimers. The octamer wraps approximately 147 bp of DNA
Subcellular location: Nucleus. Chromosome

Explore the universe of human proteins at neXtProt for HIST1H2AH: NX_Q96KK5

Explore proteomics data for HIST1H2AH at MOPED 

Post-translational modifications:

  • UniProtKB: The chromatin-associated form is phosphorylated on Thr-121 during mitosis (Probable)
  • UniProtKB: Deiminated on Arg-4 in granulocytes upon calcium entry
  • UniProtKB: 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 events
  • UniProtKB: Phosphorylation on Ser-2 is enhanced during mitosis. Phosphorylation on Ser-2 by RPS6KA5/MSK1 directly represses
    transcription. Acetylation of H3 inhibits Ser-2 phosphorylation by RPS6KA5/MSK1
  • UniProtKB: Symmetric dimethylation on Arg-4 by the PRDM1/PRMT5 complex may play a crucial role in the germ-cell lineage (By
    similarity)
  • UniProtKB: 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 autosomes
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96KK5

  • HIST1H2AH Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HIST1H2AH Protein Expression
    REFSEQ proteins: NP_542163.1  
    ENSEMBL proteins: 
     ENSP00000366679  

    Human Recombinant Protein Products for HIST1H2AH: 
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    Cloud-Clone Corp. Proteins for HIST1H2AH 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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

    HIST1H2AH for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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 Q96KK5

    ProtoNet protein and cluster: Q96KK5

    1 Blocks protein domain: IPB002119 Histone H2A

    UniProtKB/Swiss-Prot: H2A1H_HUMAN, Q96KK5
    Similarity: Belongs to the histone H2A family


    HIST1H2AH 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: H2A1H_HUMAN, Q96KK5
    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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0043565sequence-specific DNA binding ----
    GO:0046982protein heterodimerization activity IEA--
         
    HIST1H2AH for ontologies           About GeneDecksing


    Animal Models:
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for HIST1H2AH About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Alcoholism
    Alcoholism0.34
    Systemic lupus erythematosus0.34

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    2         Kegg Pathways  (Kegg details for HIST1H2AH):
        Alcoholism
    Systemic lupus erythematosus


    HIST1H2AH for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HIST1H2AH

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    3 Interacting proteins for HIST1H2AH (Q96KK53 ENSP000003666794) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KBTBD7Q8WVZ93I2D: score=1 
    UBCENSP000003448184STRING: ENSP00000344818
    SUPT16HENSP000002162974STRING: ENSP00000216297
    About this table

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

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

    HIST1H2AH for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 HIST1H2AH (H2A1H)

    1 HMDB Compound for HIST1H2AH    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    Search CenterWatch for drugs/clinical trials and news about HIST1H2AH / H2A1H

    (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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for HIST1H2AH gene: 
    NM_080596.2  

    Unigene Cluster for HIST1H2AH:

    Histone cluster 1, H2ah
    Hs.352225  [show with all ESTs]
    Unigene Representative Sequence: BE269610
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000377459(uc003niz.3)
    miRNA
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    Additional mRNA sequence: 

    AK312232.1 BC093849.1 BC093851.1 BC134366.1 BC148293.2 

    2 DOTS entries:

    DT.95189428  DT.121321520 

    5 AceView cDNA sequences:

    NM_080596 BX281083 CD722289 BX955192 AI749820 

    GeneLoc Exon Structure


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

    HIST1H2AH expression in normal human tissues (normalized intensities)      HIST1H2AH embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    HIST1H2AH Expression
    About this image


    HIST1H2AH expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/33 selected tissues (see all 33) fully expand
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Uterus
             uterus, pre-menopause ; glandular cells   
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             seminal vesicle ; glandular cells   

    See HIST1H2AH Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HIST1H2AH

    SOURCE GeneReport for Unigene cluster: Hs.352225
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    In Situ
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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)
    About This Section

    This gene was present in the common ancestor of human and mouse.

    Orthologs for HIST1H2AH gene from 1/4 species (see all 4)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hist1h2ah5 histone cluster 1, H2ah   --   13 (8.14 cM) 22035164 


    ENSEMBL Gene Tree for HIST1H2AH (if available)
    TreeFam Gene Tree for HIST1H2AH (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HIST1H2AH gene
    HIST3H2A2  HIST1H2AD2  HIST2H2AA32  HIST2H2AB2  HIST1H2AI2  HIST1H2AG2  HIST1H2AC2  HIST1H2AM2  
    HIST1H2AJ2  HIST2H2AA42  HIST1H2AA2  HIST1H2AE2  HIST2H2AC2  HIST1H2AB2  HIST1H2AK2  HIST1H2AL2  
    H2AFJ2  
    18/26 SIMAP similar genes for HIST1H2AH using alignment to 2 protein entries:     H2A1H_HUMAN (see all proteins) (see all similar genes):
    HIST1H2AB    HIST1H2AC    HIST1H2AD    HIST1H2AE    HIST1H2AG    HIST1H2AI
    HIST1H2AJ    HIST1H2AK    HIST1H2AL    HIST1H2AM    HIST2H2AA3    HIST2H2AA4
    HIST3H2A    H2AFJ    HIST2H2AC    H2AFX    HIST1H2AA    HIST2H2AB

    HIST1H2AH 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) 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
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing HIST1H2AH
    DNA2.0 Custom Variant and Variant Library Synthesis for HIST1H2AH

    (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.)
    About This Section
    OMIM gene information: 615013    OMIM disorders: --

    3 diseases for HIST1H2AH:    About MalaCards
    riddle syndrome    systemic lupus erythematosus    lupus erythematosus


    HIST1H2AH for disorders           About GeneDecksing

    Genetic Association Database (GAD): HIST1H2AH

    Export disorders for HIST1H2AH 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 HIST1H2AH gene, integrated from 9 sources (see all 41):
    (articles sorted by number of sources associating them with HIST1H2AH)
        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. (2002)
    2. DNA damage triggers nucleotide excision repair-dependent monoubiquitylation of histone H2A. (PubMed id 16702407)1, 2 Bergink S.... Dantuma N.P. (2006)
    3. Deimination of histone H2A and H4 at arginine 3 in HL-60 granulocytes. (PubMed id 15823041)1, 2 Hagiwara T.... Yamada M. (2005)
    4. Role of Bmi-1 and Ring1A in H2A ubiquitylation and Hox gene silencing. (PubMed id 16359901)1, 2 Cao R.... Zhang Y. (2005)
    5. Role of histone H2A ubiquitination in Polycomb silencing. (PubMed id 15386022)1, 2 Wang H.... Zhang Y. (2004)
    6. Phosphorylation of histone H2A inhibits transcription on chromatin templates. (PubMed id 15010469)1, 2 Zhang Y.... Parvin J.D. (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. (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. (2004)
    9. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
    10. A novel ubiquitin mark at the N-terminal tail of histone H2As targeted by RNF168 ubiquitin ligase. (PubMed id 22713238)2 Gatti M.... Penengo L. (2012)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 85235 HGNC: 13671 AceView: HIST1H2AH Ensembl:ENSG00000184825 euGenes: HUgn85235
    ECgene: HIST1H2AH Kegg: 85235 H-InvDB: HIST1H2AH

    (According to HUGE)
    About This Section
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    (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 HIST1H2AH Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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