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Aliases for H2AFJ Gene

Aliases for H2AFJ Gene

  • H2A Histone Family Member J 2 3 5
  • H2a/J 3 4
  • H2A Histone Family, Member J 2
  • Histone H2A.J 3
  • Buforin I 3
  • H2AJ 3

External Ids for H2AFJ Gene

Previous GeneCards Identifiers for H2AFJ Gene

  • GC12P014666
  • GC12P015072
  • GC12P014827
  • GC12P014818
  • GC12P014776
  • GC12P014777
  • GC12P014778
  • GC12P014779
  • GC12P014780
  • GC12P014781
  • GC12P014782

Summaries for H2AFJ Gene

Entrez Gene Summary for H2AFJ 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 H2AFJ Gene

H2AFJ (H2A Histone Family Member J) is a Protein Coding gene. Among its related pathways are Mitotic Prophase and Meiosis. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding and protein heterodimerization activity. An important paralog of this gene is HIST1H2AI.

UniProtKB/Swiss-Prot for H2AFJ 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 H2AFJ Gene

Additional gene information for H2AFJ Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for H2AFJ Gene

Genomics for H2AFJ Gene

GeneHancer (GH) Regulatory Elements for H2AFJ Gene

Promoters and enhancers for H2AFJ Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12I014772 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 558.6 +0.4 423 3.8 PKNOX1 FOXA2 ARID4B SIN3A ZNF48 YY1 GLIS2 FOS RUNX3 ZNF202 H2AFJ GC12P014775 PIR36886 WBP11 C12orf60 ENSG00000261324 HIST4H4 ATF7IP ERP27
GH12I014945 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.7 +181.0 180978 19.1 HDGF PKNOX1 ATF1 FOXA2 SMAD1 YBX1 IRF4 YY1 ZNF766 GATA2 ARHGDIB ERP27 PDE6H WBP11 ART4 H2AFJ HIST4H4 SMCO3 C12orf60 ENSG00000256339
GH12I014255 Enhancer 2 VISTA FANTOM5 Ensembl ENCODE dbSUPER 11 -515.5 -515508 7.2 MLX FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF143 ZNF548 SP3 MEF2D ENSG00000261324 ATF7IP HIST4H4 WBP11 RPL30P11 H2AFJ PLBD1 GC12P014255 GNAI2P1 PIR56629
GH12I014768 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 8.8 -3.9 -3905 4.2 HDGF PKNOX1 CLOCK FOXA2 SMAD1 MLX ARID4B SIN3A FEZF1 DMAP1 GC12M014770 HIST4H4 LOC105369669 C12orf60 ENSG00000261324 H2AFJ ERP27
GH12I014883 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 10.4 +110.6 110635 3.2 PKNOX1 SMAD1 NFIB EBF1 CTBP1 GATA3 POLR2A ATF7 RCOR1 IKZF2 MGP ENSG00000256339 ERP27 PDE6H ART4 SMCO3 ARHGDIB HIST4H4 H2AFJ WBP11
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around H2AFJ on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the H2AFJ gene promoter:

Genomic Locations for H2AFJ Gene

Genomic Locations for H2AFJ 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)

Genomic View for H2AFJ Gene

Genes around H2AFJ on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
H2AFJ Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for H2AFJ Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for H2AFJ Gene

Proteins for H2AFJ Gene

  • Protein details for H2AFJ Gene (UniProtKB/Swiss-Prot)

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

    Protein attributes for H2AFJ 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 H2AFJ Gene

    Alternative splice isoforms for H2AFJ Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for H2AFJ Gene

Post-translational modifications for H2AFJ Gene

  • 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).
  • 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).
  • Ubiquitination at isoforms=214, posLast=1616, and posLast=120120

Other Protein References for H2AFJ Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for H2AFJ Gene

Domains & Families for H2AFJ Gene

Gene Families for H2AFJ Gene

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

Protein Domains for H2AFJ Gene

Suggested Antigen Peptide Sequences for H2AFJ Gene

GenScript: Design optimal peptide antigens:

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 H2AFJ: view

Function for H2AFJ Gene

Molecular function for H2AFJ 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 H2AFJ Gene

Gene Ontology (GO) - Molecular Function for H2AFJ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0003677 DNA binding IEA,IBA --
GO:0046982 protein heterodimerization activity IEA --
genes like me logo Genes that share ontologies with H2AFJ: view
genes like me logo Genes that share phenotypes with H2AFJ: view

miRNA for H2AFJ Gene

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for H2AFJ Gene

Localization for H2AFJ Gene

Subcellular locations from UniProtKB/Swiss-Prot for H2AFJ 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 H2AFJ gene
Compartment Confidence
extracellular 5
nucleus 3

Gene Ontology (GO) - Cellular Components for H2AFJ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000786 nucleosome IEA --
GO:0000790 nuclear chromatin IBA --
GO:0005634 nucleus IEA --
GO:0005694 chromosome IEA --
GO:0070062 extracellular exosome HDA,IDA 20458337
genes like me logo Genes that share ontologies with H2AFJ: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for H2AFJ Gene

Pathways & Interactions for H2AFJ Gene

SuperPathways for H2AFJ 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 H2AFJ: view

Gene Ontology (GO) - Biological Process for H2AFJ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006342 chromatin silencing IBA --
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with H2AFJ: view

No data available for SIGNOR curated interactions for H2AFJ Gene

Drugs & Compounds for H2AFJ Gene

No Compound Related Data Available

Transcripts for H2AFJ Gene

mRNA/cDNA for H2AFJ Gene

Unigene Clusters for H2AFJ Gene

H2A histone family, member J:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for H2AFJ Gene

No ASD Table

Relevant External Links for H2AFJ Gene

GeneLoc Exon Structure for
H2AFJ
ECgene alternative splicing isoforms for
H2AFJ

Expression for H2AFJ Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for H2AFJ Gene

Protein differential expression in normal tissues from HIPED for H2AFJ Gene

This gene is overexpressed in Saliva (40.2) and Heart (18.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for H2AFJ Gene



Protein tissue co-expression partners for H2AFJ Gene

NURSA nuclear receptor signaling pathways regulating expression of H2AFJ Gene:

H2AFJ

SOURCE GeneReport for Unigene cluster for H2AFJ Gene:

Hs.524280

Evidence on tissue expression from TISSUES for H2AFJ Gene

  • Eye(4)
  • Nervous system(2.7)
genes like me logo Genes that share expression patterns with H2AFJ: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for H2AFJ Gene

Orthologs for H2AFJ Gene

This gene was present in the common ancestor of animals.

Orthologs for H2AFJ Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia H2AFX 33 34
  • 100 (n)
cow
(Bos Taurus)
Mammalia H2AFJ 33 34
  • 94.57 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 94 (a)
OneToMany
-- 34
  • 94 (a)
OneToMany
-- 34
  • 94 (a)
OneToMany
-- 34
  • 94 (a)
OneToMany
-- 34
  • 92 (a)
OneToMany
-- 34
  • 91 (a)
OneToMany
-- 34
  • 90 (a)
OneToMany
dog
(Canis familiaris)
Mammalia H2AFJ 33 34
  • 92.51 (n)
mouse
(Mus musculus)
Mammalia H2afj 33 16 34
  • 87.08 (n)
rat
(Rattus norvegicus)
Mammalia H2afj 33
  • 86.05 (n)
chicken
(Gallus gallus)
Aves H2A-VII 34
  • 96 (a)
ManyToMany
HIST1H2A9 33
  • 86.05 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia hist1h2al 33
  • 79.49 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003913 33
  • 77.41 (n)
Species where no ortholog for H2AFJ 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 H2AFJ Gene

ENSEMBL:
Gene Tree for H2AFJ (if available)
TreeFam:
Gene Tree for H2AFJ (if available)

Paralogs for H2AFJ Gene

Variants for H2AFJ Gene

Sequence variations from dbSNP and Humsavar for H2AFJ Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000937213 -- 14,775,916(+) A/C 3_prime_UTR_variant, non_coding_transcript_variant
rs1001350455 -- 14,774,311(+) C/T upstream_transcript_variant
rs1001423813 -- 14,775,589(+) T/C 3_prime_UTR_variant, non_coding_transcript_variant
rs1001780654 -- 14,774,032(+) A/G upstream_transcript_variant
rs1002954679 -- 14,773,251(+) G/A upstream_transcript_variant

Variation tolerance for H2AFJ 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 H2AFJ Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
H2AFJ

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for H2AFJ Gene

Disorders for H2AFJ Gene

Additional Disease Information for H2AFJ

No disorders were found for H2AFJ Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for H2AFJ Gene

Publications for H2AFJ Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  2. 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 FM (Molecular & cellular proteomics : MCP 2015) 3 58
  3. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein MY … Mann M (Cell 2015) 3 58
  4. The Activation-Induced Assembly of an RNA/Protein Interactome Centered on the Splicing Factor U2AF2 Regulates Gene Expression in Human CD4 T Cells. (PMID: 26641092) Whisenant TC … Salomon DR (PloS one 2015) 3 58
  5. Nucleosome adaptability conferred by sequence and structural variations in histone H2A-H2B dimers. (PMID: 25731851) Shaytan AK … Panchenko AR (Current opinion in structural biology 2015) 3 58

Products for H2AFJ Gene

Sources for H2AFJ Gene

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