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Aliases for HIST2H2AA4 Gene

Aliases for HIST2H2AA4 Gene

  • Histone Cluster 2, H2aa4 2 3 5
  • Histone 2, H2aa4 2 3
  • Histone H2A/R 3
  • Histone H2A.2 4
  • Histone H2A/O 4
  • HIST2H2AA 4
  • H2AFO 4
  • H2A/R 3

External Ids for HIST2H2AA4 Gene

Previous GeneCards Identifiers for HIST2H2AA4 Gene

  • GC01P148089
  • GC01P149822
  • GC01M121196

Summaries for HIST2H2AA4 Gene

Entrez Gene Summary for HIST2H2AA4 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 replication-dependent histone that is 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 a histone cluster on chromosome 1. This gene is one of four histone genes in the cluster that are duplicated; this record represents the telomeric copy. [provided by RefSeq, Aug 2015]

GeneCards Summary for HIST2H2AA4 Gene

HIST2H2AA4 (Histone Cluster 2, H2aa4) is a Protein Coding gene. Among its related pathways are Chromatin organization and Packaging Of Telomere Ends. GO annotations related to this gene include sequence-specific DNA binding and protein heterodimerization activity. An important paralog of this gene is HIST1H2AM.

UniProtKB/Swiss-Prot for HIST2H2AA4 Gene

  • 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HIST2H2AA4 Gene

Genomics for HIST2H2AA4 Gene

Regulatory Elements for HIST2H2AA4 Gene

Genomic Location for HIST2H2AA4 Gene

149,851,061 bp from pter
149,851,624 bp from pter
564 bases
Plus strand

Genomic View for HIST2H2AA4 Gene

Genes around HIST2H2AA4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HIST2H2AA4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HIST2H2AA4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HIST2H2AA4 Gene

Proteins for HIST2H2AA4 Gene

  • Protein details for HIST2H2AA4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Histone H2A type 2-A
    Protein Accession:
    Secondary Accessions:
    • B2R5F0
    • P20670

    Protein attributes for HIST2H2AA4 Gene

    130 amino acids
    Molecular mass:
    14095 Da
    Quaternary structure:
    • 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.
    • 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.

neXtProt entry for HIST2H2AA4 Gene

Proteomics data for HIST2H2AA4 Gene at MOPED

Post-translational modifications for HIST2H2AA4 Gene

  • 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.
  • Deiminated on Arg-4 in granulocytes upon calcium entry.
  • 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).
  • Monoubiquitination of Lys-120 (H2AK119Ub) by RING1, TRIM27 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. Monoubiquitination of Lys-120 (H2AK119Ub) by TRIM27 may promote transformation of cells in a number of breast cancers (PubMed:25470042). 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.
  • 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 transcription.
  • Symmetric dimethylation on Arg-4 by the PRDM1/PRMT5 complex may play a crucial role in the germ-cell lineage.
  • Ubiquitination at Lys 14 and Lys 16
  • Modification sites at PhosphoSitePlus

Other Protein References for HIST2H2AA4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HIST2H2AA4 Gene

Domains & Families for HIST2H2AA4 Gene

Gene Families for HIST2H2AA4 Gene

Protein Domains for HIST2H2AA4 Gene

Suggested Antigen Peptide Sequences for HIST2H2AA4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the histone H2A family.
  • Belongs to the histone H2A family.
genes like me logo Genes that share domains with HIST2H2AA4: view

Function for HIST2H2AA4 Gene

Molecular function for HIST2H2AA4 Gene

UniProtKB/Swiss-Prot 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.

Phenotypes for HIST2H2AA4 Gene

genes like me logo Genes that share phenotypes with HIST2H2AA4: view

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HIST2H2AA4 Gene

Localization for HIST2H2AA4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HIST2H2AA4 Gene

Nucleus. Chromosome.

Subcellular locations from

Jensen Localization Image for HIST2H2AA4 Gene COMPARTMENTS Subcellular localization image for HIST2H2AA4 gene
Compartment Confidence
nucleus 3

No data available for Gene Ontology (GO) - Cellular Components for HIST2H2AA4 Gene

Pathways & Interactions for HIST2H2AA4 Gene

SuperPathways for HIST2H2AA4 Gene

Superpath Contained pathways
1 Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3
2 Cellular Senescence
3 Chromosome Maintenance
4 Cell Cycle, Mitotic
5 Chromatin organization
genes like me logo Genes that share pathways with HIST2H2AA4: view

Interacting Proteins for HIST2H2AA4 Gene

Selected Interacting proteins: Q6FI13-H2A2A_HUMAN for HIST2H2AA4 Gene via I2D

Gene Ontology (GO) - Biological Process for HIST2H2AA4 Gene


No data available for SIGNOR curated interactions for HIST2H2AA4 Gene

Drugs & Compounds for HIST2H2AA4 Gene

No Compound Related Data Available

Transcripts for HIST2H2AA4 Gene

mRNA/cDNA for HIST2H2AA4 Gene

(1) REFSEQ mRNAs :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for HIST2H2AA4 Gene

No ASD Table

Relevant External Links for HIST2H2AA4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for HIST2H2AA4 Gene

mRNA expression in normal human tissues for HIST2H2AA4 Gene

mRNA differential expression in normal tissues according to GTEx for HIST2H2AA4 Gene

This gene is overexpressed in Whole Blood (x38.2).

Protein differential expression in normal tissues from HIPED for HIST2H2AA4 Gene

This gene is overexpressed in Tlymphocyte (48.9) and Urine (12.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for HIST2H2AA4 Gene

SOURCE GeneReport for Unigene cluster for HIST2H2AA4 Gene Hs.745563

genes like me logo Genes that share expression patterns with HIST2H2AA4: view

Protein tissue co-expression partners for HIST2H2AA4 Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for HIST2H2AA4 Gene

Orthologs for HIST2H2AA4 Gene

This gene was present in the common ancestor of mammals.

Orthologs for HIST2H2AA4 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia LOC788724 35
  • 91.54 (n)
  • 98.46 (a)
(Mus musculus)
Mammalia Hist2h2aa1 35
  • 89.49 (n)
  • 100 (a)
Hist2h2aa2 16
(Pan troglodytes)
Mammalia HIST2H2AA4 35
  • 99.74 (n)
  • 100 (a)
(Rattus norvegicus)
Mammalia Hist2h2aa3 35
  • 89.49 (n)
  • 100 (a)
Species with no ortholog for HIST2H2AA4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for HIST2H2AA4 Gene

Gene Tree for HIST2H2AA4 (if available)
Gene Tree for HIST2H2AA4 (if available)

Paralogs for HIST2H2AA4 Gene

genes like me logo Genes that share paralogs with HIST2H2AA4: view

Variants for HIST2H2AA4 Gene

Sequence variations from dbSNP and Humsavar for HIST2H2AA4 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs12119601 -- 149,849,089(+) ACTAT(C/G)TACAC upstream-variant-2KB
rs59793768 -- 149,849,269(+) ATCAC(C/G)CAGAA upstream-variant-2KB
rs72708146 -- 149,849,452(+) ATCCC(C/T)AGAGC upstream-variant-2KB
rs75737534 -- 149,849,209(+) CACCA(C/T)TGCAC upstream-variant-2KB
rs138445419 -- 149,849,342(+) GCTGC(C/T)GGTCT upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for HIST2H2AA4 Gene

Variant ID Type Subtype PubMed ID
dgv117e1 CNV Complex 17122850
nsv428235 CNV Gain 18775914
esv2750807 CNV Gain 17911159
dgv123e1 CNV Complex 17122850
dgv125e1 CNV Complex 17122850
nsv872384 CNV Gain 21882294
nsv824564 CNV Gain 20364138
nsv831503 CNV Gain 17160897
nsv469694 CNV Loss 16826518
nsv831525 CNV Gain 17160897
essv23032 CNV CNV 17122850
esv1007634 OTHER Inversion 20482838
nsv7182 OTHER Inversion 18451855
nsv499132 OTHER Inversion 21111241
nsv46 OTHER Inversion 15895083

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Variation tolerance and Relevant External Links for HIST2H2AA4 Gene

Disorders for HIST2H2AA4 Gene

Relevant External Links for HIST2H2AA4

Atlas of Genetics and Cytogenetics in Oncology and Haematology:

No disorders were found for HIST2H2AA4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for HIST2H2AA4 Gene

Publications for HIST2H2AA4 Gene

  1. Precise characterization of human histones in the H2A gene family by top down mass spectrometry. (PMID: 16457589) Boyne M.T. II … Kelleher N.L. (J. Proteome Res. 2006) 3 4 67
  2. Functional characterization of a human histone gene cluster duplication. (PMID: 15527963) Braastad C.D. … Stein G.S. (Gene 2004) 2 3
  3. Proximity biotinylation and affinity purification are complementary approaches for the interactome mapping of chromatin-associated protein complexes. (PMID: 25281560) Lambert J.P. … Gingras A.C. (J Proteomics 2015) 3
  4. A comprehensive view of the epigenetic landscape part I: DNA methylation, passive and active DNA demethylation pathways and histone variants. (PMID: 25362550) Sadakierska-Chudy A. … Filip M. (Neurotox Res 2015) 3
  5. Quantitative Proteomics Reveals Dynamic Interactions of the Minichromosome Maintenance Complex (MCM) in the Cellular Response to Etoposide Induced DNA Damage. (PMID: 25963833) Drissi R. … Boisvert F.M. (Mol. Cell Proteomics 2015) 3

Products for HIST2H2AA4 Gene

Sources for HIST2H2AA4 Gene