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... See more...

Aliases for H2AJ Gene

Aliases for H2AJ Gene

  • H2A.J Histone 2 3
  • H2A Histone Family Member J 2 3 5
  • Histone H2A.J 3 4
  • H2AFJ 3 5
  • H2a/J 3 4
  • H2A Histone Family, Member J 2
  • Buforin I 3

External Ids for H2AJ Gene

Previous HGNC Symbols for H2AJ Gene

  • H2AFJ

Summaries for H2AJ Gene

Entrez Gene Summary for H2AJ 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 located on chromosome 12 and encodes a replication-independent histone that is a variant H2A histone. The protein is divergent at the C-terminus compared to the consensus H2A histone family member. This gene also encodes an antimicrobial peptide with antibacterial and antifungal activity.[provided by RefSeq, Oct 2015]

GeneCards Summary for H2AJ Gene

H2AJ (H2A.J Histone) is a Protein Coding gene. Among its related pathways are Signaling by Wnt and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. An important paralog of this gene is H2AC19.

UniProtKB/Swiss-Prot Summary for H2AJ 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.

Gene Wiki entry for H2AJ Gene

Additional gene information for H2AJ Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for H2AJ Gene

Genomics for H2AJ Gene

GeneHancer (GH) Regulatory Elements for H2AJ Gene

Promoters and enhancers for H2AJ Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around H2AJ on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for H2AJ

Genomic Locations for H2AJ Gene

Genomic Locations for H2AJ Gene
chr12:14,774,336-14,778,002
(GRCh38/hg38)
Size:
3,667 bases
Orientation:
Plus strand
chr12:14,927,270-14,930,936
(GRCh37/hg19)
Size:
3,667 bases
Orientation:
Plus strand

Genomic View for H2AJ Gene

Genes around H2AJ on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
H2AJ Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for H2AJ Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for H2AJ Gene

Proteins for H2AJ Gene

  • Protein details for H2AJ Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BTM1-H2AJ_HUMAN
    Recommended name:
    Histone H2A.J
    Protein Accession:
    Q9BTM1
    Secondary Accessions:
    • Q9NV63

    Protein attributes for H2AJ Gene

    Size:
    129 amino acids
    Molecular mass:
    14019 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.

    Three dimensional structures from OCA and Proteopedia for H2AJ Gene

    Alternative splice isoforms for H2AJ Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for H2AJ Gene

Post-translational modifications for H2AJ Gene

  • Monoubiquitination of Lys-120 (H2AXK119ub) gives a specific tag for epigenetic transcriptional repression. Following DNA double-strand breaks (DSBs), it is ubiquitinated through 'Lys-63' linkage of ubiquitin moieties (By similarity).
  • 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 DCAF1 is present in the regulatory region of many tumor suppresor genes and down-regulates their transcription (By similarity).
  • 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 (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for H2AJ Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for H2AJ Gene

Domains & Families for H2AJ Gene

Gene Families for H2AJ Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for H2AJ Gene

Suggested Antigen Peptide Sequences for H2AJ Gene

GenScript: Design optimal peptide antigens:
  • Histone H2A (C9JE22_HUMAN)
  • Histone H2A.J (H2AJ_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BTM1

UniProtKB/Swiss-Prot:

H2AJ_HUMAN :
  • Belongs to the histone H2A family.
Family:
  • Belongs to the histone H2A family.
genes like me logo Genes that share domains with H2AJ: view

Function for H2AJ Gene

Molecular function for H2AJ 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 From GWAS Catalog for H2AJ Gene

Gene Ontology (GO) - Molecular Function for H2AJ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0003677 DNA binding IBA,IEA 21873635
GO:0046982 protein heterodimerization activity IEA --
genes like me logo Genes that share ontologies with H2AJ: view
genes like me logo Genes that share phenotypes with H2AJ: view

miRNA for H2AJ Gene

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for H2AJ Gene

Localization for H2AJ Gene

Subcellular locations from UniProtKB/Swiss-Prot for H2AJ Gene

Nucleus. Chromosome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for H2AJ gene
Compartment Confidence
nucleus 3
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for H2AJ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000786 nucleosome IEA --
GO:0000790 nuclear chromatin IBA 21873635
GO:0005634 nucleus IEA --
GO:0005694 chromosome IEA --
GO:0070062 extracellular exosome HDA 20458337
genes like me logo Genes that share ontologies with H2AJ: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for H2AJ Gene

Pathways & Interactions for H2AJ Gene

PathCards logo

SuperPathways for H2AJ Gene

SuperPathway Contained pathways
1 Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3
2 Cellular Senescence (REACTOME)
3 Chromosome Maintenance
4 Cell Cycle, Mitotic
.60
5 Mitotic Prophase
genes like me logo Genes that share pathways with H2AJ: view

Gene Ontology (GO) - Biological Process for H2AJ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006325 chromatin organization IBA 21873635
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with H2AJ: view

No data available for SIGNOR curated interactions for H2AJ Gene

Drugs & Compounds for H2AJ Gene

No Compound Related Data Available

Transcripts for H2AJ Gene

mRNA/cDNA for H2AJ Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for H2AJ Gene

No ASD Table

Relevant External Links for H2AJ Gene

GeneLoc Exon Structure for
H2AJ

Expression for H2AJ Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for H2AJ

SOURCE GeneReport for Unigene cluster for H2AJ Gene:

Hs.524280

Evidence on tissue expression from TISSUES for H2AJ Gene

  • Eye(4)
  • Nervous system(2.7)
No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for H2AJ Gene

Orthologs for H2AJ Gene

This gene was present in the common ancestor of animals.

Orthologs for H2AJ Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia H2AFX 31 30
  • 100 (n)
OneToOne
cow
(Bos Taurus)
Mammalia H2AFJ 31 30
  • 94.57 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 94 (a)
OneToMany
-- 31
  • 94 (a)
OneToMany
-- 31
  • 94 (a)
OneToMany
-- 31
  • 94 (a)
OneToMany
-- 31
  • 92 (a)
OneToMany
-- 31
  • 91 (a)
OneToMany
-- 31
  • 90 (a)
OneToMany
dog
(Canis familiaris)
Mammalia H2AFJ 31 30
  • 92.51 (n)
OneToOne
mouse
(Mus musculus)
Mammalia H2afj 31 30
  • 87.08 (n)
OneToOne
H2aj 17
rat
(Rattus norvegicus)
Mammalia H2afj 30
  • 86.05 (n)
chicken
(Gallus gallus)
Aves H2A-VII 31
  • 96 (a)
ManyToMany
HIST1H2A9 30
  • 86.05 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia hist1h2al 30
  • 79.49 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003913 30
  • 77.41 (n)
Species where no ortholog for H2AJ was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • 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)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for H2AJ Gene

ENSEMBL:
Gene Tree for H2AJ (if available)
TreeFam:
Gene Tree for H2AJ (if available)
Aminode:
Evolutionary constrained regions (ECRs) for H2AJ: view image

Paralogs for H2AJ Gene

Variants for H2AJ Gene

Additional dbSNP identifiers (rs#s) for H2AJ Gene

Variation tolerance for H2AJ Gene

Residual Variation Intolerance Score: 45.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.14; 3.06% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for H2AJ Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
H2AJ

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP and Structural Variations from Database of Genomic Variants (DGV) for H2AJ Gene

Disorders for H2AJ Gene

No disorders were found for H2AJ Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot , Genatlas and External Links for H2AJ Gene

Publications for H2AJ Gene

  1. Histone variant H2A.J accumulates in senescent cells and promotes inflammatory gene expression. (PMID: 28489069) Contrepois K … Mann C (Nature communications 2017) 2 3 54
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  3. The HIV-1 Tat protein recruits a ubiquitin ligase to reorganize the 7SK snRNP for transcriptional activation. (PMID: 29845934) Faust TB … Frankel AD (eLife 2018) 3 54
  4. Assembly of the WHIP-TRIM14-PPP6C Mitochondrial Complex Promotes RIG-I-Mediated Antiviral Signaling. (PMID: 29053956) Tan P … Wang RF (Molecular cell 2017) 3 54
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein MY … Mann M (Cell 2015) 3 54

Products for H2AJ Gene

Sources for H2AJ Gene