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Aliases for H2AFX Gene

Aliases for H2AFX Gene

  • H2A Histone Family, Member X 2 3
  • Histone H2A.X 3 4
  • H2A/X 3 4
  • H2AX 3 4
  • H2AX Histone 3
  • H2A.X 3

External Ids for H2AFX Gene

Previous HGNC Symbols for H2AFX Gene

  • H2AX

Previous GeneCards Identifiers for H2AFX Gene

  • GC11U990060
  • GC11M120476
  • GC11M118998
  • GC11M118502
  • GC11M118469
  • GC11M114904
  • GC11M118964

Summaries for H2AFX Gene

Entrez Gene Summary for H2AFX 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 encodes a replication-independent histone that is a member of the histone H2A family, and generates two transcripts through the use of the conserved stem-loop termination motif, and the polyA addition motif. [provided by RefSeq, Oct 2015]

GeneCards Summary for H2AFX Gene

H2AFX (H2A Histone Family, Member X) is a Protein Coding gene. Diseases associated with H2AFX include breast adenoma and balanitis xerotica obliterans. Among its related pathways are Signaling by GPCR and Signaling by Rho GTPases. GO annotations related to this gene include sequence-specific DNA binding and enzyme binding. An important paralog of this gene is HIST1H2AM.

UniProtKB/Swiss-Prot for H2AFX Gene

  • Variant histone H2A which replaces conventional H2A in a subset of nucleosomes. 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. Required for checkpoint-mediated arrest of cell cycle progression in response to low doses of ionizing radiation and for efficient repair of DNA double strand breaks (DSBs) specifically when modified by C-terminal phosphorylation.

Gene Wiki entry for H2AFX Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for H2AFX Gene

Genomics for H2AFX Gene

Regulatory Elements for H2AFX Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for H2AFX Gene

Chromosome:
11
Start:
119,093,854 bp from pter
End:
119,095,467 bp from pter
Size:
1,614 bases
Orientation:
Minus strand

Genomic View for H2AFX Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for H2AFX Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for H2AFX Gene

Proteins for H2AFX Gene

  • Protein details for H2AFX Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P16104-H2AX_HUMAN
    Recommended name:
    Histone H2AX
    Protein Accession:
    P16104
    Secondary Accessions:
    • Q4ZGJ7
    • Q6IAS5

    Protein attributes for H2AFX Gene

    Size:
    143 amino acids
    Molecular mass:
    15145 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. Interacts with numerous proteins required for DNA damage signaling and repair when phosphorylated on Ser-140. These include MDC1, TP53BP1, BRCA1 and the MRN complex, composed of MRE11A, RAD50, and NBN. Interaction with the MRN complex is mediated at least in part by NBN. Also interacts with DHX9/NDHII when phosphorylated on Ser-140 and MCPH1 when phosphorylated at Ser-140 or Tyr-143. Interacts with ARRB2; the interaction is detected in the nucleus upon OR1D2 stimulation. Interacts with Epstein-Barr virus protein EBNA6.

    Three dimensional structures from OCA and Proteopedia for H2AFX Gene

neXtProt entry for H2AFX Gene

Proteomics data for H2AFX Gene at MOPED

Post-translational modifications for H2AFX Gene

  • Acetylation at Lys-37 increases in S and G2 phases. This modification has been proposed to play a role in DNA double-strand break repair (By similarity).
  • Monoubiquitination of Lys-120 (H2AXK119ub) by RING1 and RNF2/RING2 complex gives a specific tag for epigenetic transcriptional repression (By similarity). 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.
  • Phosphorylated on Ser-140 (to form gamma-H2AX or H2AX139ph) in response to DNA double strand breaks (DSBs) generated by exogenous genotoxic agents and by stalled replication forks, and may also occur during meiotic recombination events and immunoglobulin class switching in lymphocytes. Phosphorylation can extend up to several thousand nucleosomes from the actual site of the DSB and may mark the surrounding chromatin for recruitment of proteins required for DNA damage signaling and repair. Widespread phosphorylation may also serve to amplify the damage signal or aid repair of persistent lesions. Phosphorylation of Ser-140 (H2AX139ph) in response to ionizing radiation is mediated by both ATM and PRKDC while defects in DNA replication induce Ser-140 phosphorylation (H2AX139ph) subsequent to activation of ATR and PRKDC. Dephosphorylation of Ser-140 by PP2A is required for DNA DSB repair. In meiosis, Ser-140 phosphorylation (H2AX139ph) may occur at synaptonemal complexes during leptotene as an ATM-dependent response to the formation of programmed DSBs by SPO11. Ser-140 phosphorylation (H2AX139ph) may subsequently occurs at unsynapsed regions of both autosomes and the XY bivalent during zygotene, downstream of ATR and BRCA1 activation. Ser-140 phosphorylation (H2AX139ph) may also be required for transcriptional repression of unsynapsed chromatin and meiotic sex chromosome inactivation (MSCI), whereby the X and Y chromosomes condense in pachytene to form the heterochromatic XY-body. During immunoglobulin class switch recombination in lymphocytes, Ser-140 phosphorylation (H2AX139ph) may occur at sites of DNA-recombination subsequent to activation of the activation-induced cytidine deaminase AICDA. Phosphorylation at Tyr-143 (H2AXY142ph) by BAZ1B/WSTF determines the relative recruitment of either DNA repair or pro-apoptotic factors. Phosphorylation at Tyr-143 (H2AXY142ph) favors the recruitment of APBB1/FE65 and pro-apoptosis factors such as MAPK8/JNK1, triggering apoptosis. In contrast, dephosphorylation of Tyr-143 by EYA proteins (EYA1, EYA2, EYA3 or EYA4) favors the recruitment of MDC1-containing DNA repair complexes to the tail of phosphorylated Ser-140 (H2AX139ph).
  • Ubiquitination at Lys 14, Lys 16, Lys 120, Lys 128, and Lys 135
  • Modification sites at PhosphoSitePlus

Other Protein References for H2AFX Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for H2AFX (H2AX)
  • Cloud-Clone Corp. Antibodies for H2AFX

No data available for DME Specific Peptides for H2AFX Gene

Domains & Families for H2AFX Gene

Gene Families for H2AFX Gene

HGNC:

Protein Domains for H2AFX Gene

Suggested Antigen Peptide Sequences for H2AFX Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P16104

UniProtKB/Swiss-Prot:

H2AX_HUMAN :
  • The [ST]-Q motif constitutes a recognition sequence for kinases from the PI3/PI4-kinase family
  • Belongs to the histone H2A family.
Domain:
  • The [ST]-Q motif constitutes a recognition sequence for kinases from the PI3/PI4-kinase family
Family:
  • Belongs to the histone H2A family.
genes like me logo Genes that share domains with H2AFX: view

Function for H2AFX Gene

Molecular function for H2AFX Gene

GENATLAS Biochemistry:
histone family 2,replacement subtype,replication independent protein,species H2A-X
UniProtKB/Swiss-Prot Function:
Variant histone H2A which replaces conventional H2A in a subset of nucleosomes. 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. Required for checkpoint-mediated arrest of cell cycle progression in response to low doses of ionizing radiation and for efficient repair of DNA double strand breaks (DSBs) specifically when modified by C-terminal phosphorylation.

Gene Ontology (GO) - Molecular Function for H2AFX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding NAS 2587254
GO:0003684 damaged DNA binding IEA --
GO:0005515 protein binding IPI 12419185
GO:0019899 enzyme binding IPI 19234442
GO:0042393 histone binding IPI 19234442
genes like me logo Genes that share ontologies with H2AFX: view
genes like me logo Genes that share phenotypes with H2AFX: view

Animal Models for H2AFX Gene

MGI Knock Outs for H2AFX:

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for H2AFX Gene

Localization for H2AFX Gene

Subcellular locations from UniProtKB/Swiss-Prot for H2AFX Gene

Nucleus. Chromosome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for H2AFX Gene COMPARTMENTS Subcellular localization image for H2AFX gene
Compartment Confidence
extracellular 5
nucleus 5
mitochondrion 2
cytoskeleton 1
cytosol 1

Gene Ontology (GO) - Cellular Components for H2AFX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000781 colocalizes_with chromosome, telomeric region IDA 15149599
GO:0000785 chromatin --
GO:0000786 nucleosome IEA --
GO:0000790 nuclear chromatin IBA --
GO:0000794 condensed nuclear chromosome IEA --
genes like me logo Genes that share ontologies with H2AFX: view

Pathways & Interactions for H2AFX Gene

SuperPathways for H2AFX Gene

Superpath Contained pathways
1 RNA Polymerase I Promoter Opening
2 RNA Polymerase I Transcription
3 G2/M DNA damage checkpoint
4 DNA Double-Strand Break Repair
5 Cellular Senescence
genes like me logo Genes that share pathways with H2AFX: view

Pathways by source for H2AFX Gene

1 Qiagen pathway for H2AFX Gene
2 Cell Signaling Technology pathways for H2AFX Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

SIGNOR curated interactions for H2AFX Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for H2AFX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000077 DNA damage checkpoint IDA 17974976
GO:0000724 double-strand break repair via homologous recombination TAS --
GO:0006281 DNA repair TAS --
GO:0006302 double-strand break repair TAS --
GO:0006303 double-strand break repair via nonhomologous end joining TAS --
genes like me logo Genes that share ontologies with H2AFX: view

Drugs & Compounds for H2AFX Gene

(21) Drugs for H2AFX Gene - From: NovoSeek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bleomycin Approved Pharma 142
Bortezomib Approved, Experimental, Investigational Pharma Proteosome and NF-kappaB inhibitor, Other, Proteasome inhibitors 758
Cisplatin Approved Pharma Inhibits DNA synthesis,chemotherapy drug, Platinum, Potent pro-apoptotic anticancer agent; activates caspase-3 2437
Doxorubicin Approved, Investigational Pharma Topo II inhibitor,immunosuppresive antineoplastic antibiotic 1525
Etoposide Approved Pharma Topo II inhibitor, Topoisomerase 2 Inhibitors, Topoisomerase II inhibitor 1127

(15) Additional Compounds for H2AFX Gene - From: NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Adozelesin
Aphidicolin
arsenite
  • AArsenite (AsO33-)
  • Arsenic (III) oxide
  • Arsenic (III) trioxide
  • Arsenic sesquioxide
  • Arsenic trioxide
15502-74-6
benzo(a)pyrene
calicheamicin
genes like me logo Genes that share compounds with H2AFX: view

Transcripts for H2AFX Gene

mRNA/cDNA for H2AFX Gene

Unigene Clusters for H2AFX Gene

H2A histone family, member X:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for H2AFX Gene

No ASD Table

Relevant External Links for H2AFX Gene

GeneLoc Exon Structure for
H2AFX
ECgene alternative splicing isoforms for
H2AFX

Expression for H2AFX Gene

mRNA expression in normal human tissues for H2AFX Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for H2AFX Gene

This gene is overexpressed in Saliva (23.9) and Peripheral blood mononuclear cells (12.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for H2AFX Gene



SOURCE GeneReport for Unigene cluster for H2AFX Gene Hs.477879

genes like me logo Genes that share expression patterns with H2AFX: view

Protein tissue co-expression partners for H2AFX Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for H2AFX Gene

Orthologs for H2AFX Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for H2AFX Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia H2AFX 35
  • 94.41 (n)
  • 99.3 (a)
H2AFX 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LOC489372 35
  • 95.57 (n)
  • 99.3 (a)
H2AFX 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia H2afx 35
  • 92.54 (n)
  • 97.2 (a)
H2afx 16
H2afx 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia H2afx 35
  • 92.07 (n)
  • 98.6 (a)
oppossum
(Monodelphis domestica)
Mammalia H2AFX 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia H2AFX 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia H2AFX 36
  • 92 (a)
OneToOne
chicken
(Gallus gallus)
Aves H2AFX 35
  • 79.25 (n)
  • 88.11 (a)
H2AFX 36
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 81 (a)
OneToMany
-- 36
  • 80 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100487455 35
  • 74.1 (n)
  • 89.21 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.18740 35
zebrafish
(Danio rerio)
Actinopterygii h2afx 35
  • 75.82 (n)
  • 88.73 (a)
h2afx 36
  • 89 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea his-12 37
  • 91 (a)
his-16 37
  • 91 (a)
his-19 37
  • 91 (a)
his-21 37
  • 91 (a)
his-3 37
  • 91 (a)
his-30 37
  • 91 (a)
his-33 37
  • 91 (a)
his-35 37
  • 90 (a)
his-43 37
  • 91 (a)
his-47 37
  • 91 (a)
his-51 37
  • 91 (a)
his-53 37
  • 91 (a)
his-57 37
  • 91 (a)
his-61 37
  • 91 (a)
his-65 37
  • 91 (a)
his-68 37
  • 91 (a)
his-7 37
  • 91 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons HTA12 35
  • 56.79 (n)
  • 67.41 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.836 35
rice
(Oryza sativa)
Liliopsida Os03g0279200 35
  • 75.26 (n)
  • 74.22 (a)
corn
(Zea mays)
Liliopsida Zm.16259 35
Species with no ortholog for H2AFX:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for H2AFX Gene

ENSEMBL:
Gene Tree for H2AFX (if available)
TreeFam:
Gene Tree for H2AFX (if available)

Paralogs for H2AFX Gene

genes like me logo Genes that share paralogs with H2AFX: view

Variants for H2AFX Gene

Sequence variations from dbSNP and Humsavar for H2AFX Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs7350 -- 119,094,338(-) ATCGC(C/T)GATTT utr-variant-3-prime
rs15301 -- 119,094,649(-) GCGGA(A/G)GACCC utr-variant-3-prime
rs1064180 -- 119,094,978(-) CAGGC(C/T)TCCCA reference, synonymous-codon
rs1064193 -- 119,094,628(-) GGGGG(A/T)GGCCG utr-variant-3-prime
rs1134734 -- 119,094,769(-) GCTCC(C/T)GTCCC utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for H2AFX Gene

Variant ID Type Subtype PubMed ID
nsv898416 CNV Loss 21882294
nsv826102 CNV Gain 20364138

Variation tolerance for H2AFX Gene

Residual Variation Intolerance Score: 36.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.07; 1.58% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for H2AFX Gene

HapMap Linkage Disequilibrium report
H2AFX

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for H2AFX Gene

Disorders for H2AFX Gene

MalaCards: The human disease database

(11) MalaCards diseases for H2AFX Gene - From: DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
breast adenoma
  • ademoma - breast
balanitis xerotica obliterans
  • penile lichen sclerosus
nijmegen breakage syndrome
  • berlin breakage syndrome
artemis deficiency
la crosse encephalitis
  • california encephalitis
- elite association
Search H2AFX in MalaCards View complete list of genes associated with diseases

Relevant External Links for H2AFX

Genetic Association Database (GAD)
H2AFX
Human Genome Epidemiology (HuGE) Navigator
H2AFX
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
H2AFX
genes like me logo Genes that share disorders with H2AFX: view

No data available for UniProtKB/Swiss-Prot and Genatlas for H2AFX Gene

Publications for H2AFX Gene

  1. Topotecan triggers apoptosis in p53-deficient cells by forcing degradation of XIAP and survivin thereby activating caspase-3-mediated Bid cleavage. (PMID: 19812371) Tomicic M.T. … Kaina B. (J. Pharmacol. Exp. Ther. 2010) 23 67
  2. Mechanism of elimination of phosphorylated histone H2AX from chromatin after repair of DNA double-strand breaks. (PMID: 19682466) Svetlova M.P. … Tomilin N.V. (Mutat. Res. 2010) 23 67
  3. Enzastaurin induces H2AX phosphorylation to regulate apoptosis via MAPK signalling in malignant glioma cells. (PMID: 19913408) Jane E.P. … Pollack I.F. (Eur. J. Cancer 2010) 23 67
  4. Structure and function of histone H2AX. (PMID: 20012577) Pinto D.M. … Flaus A. (Subcell. Biochem. 2010) 23 67
  5. Proapoptotic activity of bortezomib in gastrointestinal stromal tumor cells. (PMID: 20028860) Bauer S. … Duensing A. (Cancer Res. 2010) 23 67

Products for H2AFX Gene

  • Cloud-Clone Corp. Antibodies for H2AFX
  • Cloud-Clone Corp. Proteins for H2AFX
  • Cloud-Clone Corp Assay Kits for H2AFX

Sources for H2AFX Gene

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