Homo sapiens Gene: H2AFX
Summary
InnateDB Gene IDBG-74259.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol H2AFX
Gene Name H2A histone family, member X
Synonyms H2A.X; H2A/X; H2AX;
Species Homo sapiens
Ensembl Gene ENSG00000188486
Encoded Proteins
H2A histone family, member X
H2A histone family, member X
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 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, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:119093854-119095467
Strand Reverse strand
Band q23.3
Transcripts
ENST00000375167 ENSP00000364310
ENST00000530167 ENSP00000434024
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 302 experimentally validated interaction(s) in this database.
They are also associated with 6 interaction(s) predicted by orthology.
Experimentally validated
Total 302 [view]
Protein-Protein 298 [view]
Protein-DNA 4 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 6 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0003684 damaged DNA binding
GO:0005515 protein binding
GO:0019899 enzyme binding
GO:0042393 histone binding
GO:0043565 sequence-specific DNA binding
GO:0046982 protein heterodimerization activity
Biological Process
GO:0000077 DNA damage checkpoint
GO:0000724 double-strand break repair via homologous recombination
GO:0006281 DNA repair
GO:0006302 double-strand break repair
GO:0006334 nucleosome assembly
GO:0006974 cellular response to DNA damage stimulus
GO:0007126 meiotic nuclear division
GO:0007283 spermatogenesis
GO:0010212 response to ionizing radiation
GO:0045739 positive regulation of DNA repair
Cellular Component
GO:0000781 chromosome, telomeric region
GO:0000785 chromatin
GO:0000786 nucleosome
GO:0000790 nuclear chromatin
GO:0000794 condensed nuclear chromosome
GO:0001673 male germ cell nucleus
GO:0001741 XY body
GO:0005622 intracellular
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005657 replication fork
GO:0005694 chromosome
GO:0035861 site of double-strand break
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
REACTOME
Cellular responses to stress pathway
Packaging Of Telomere Ends pathway
PRC2 methylates histones and DNA pathway
Deposition of new CENPA-containing nucleosomes at the centromere pathway
misspliced LRP5 mutants have enhanced beta-catenin-dependent signaling pathway
RNA Polymerase I Transcription pathway
Signaling by WNT in cancer pathway
MRN complex relocalizes to nuclear foci pathway
Homologous Recombination Repair pathway
Condensation of Prophase Chromosomes pathway
Signaling by Wnt pathway
Meiotic synapsis pathway
Chromosome Maintenance pathway
Nucleosome assembly pathway
Transcriptional regulation by small RNAs pathway
Epigenetic regulation of gene expression pathway
RNA Polymerase I Promoter Clearance pathway
NoRC negatively regulates rRNA expression pathway
Telomere Maintenance pathway
Signal Transduction pathway
SIRT1 negatively regulates rRNA Expression pathway
Double-Strand Break Repair pathway
Amyloids pathway
Recruitment of repair and signaling proteins to double-strand breaks pathway
Cell Cycle pathway
DNA Damage/Telomere Stress Induced Senescence pathway
DNA methylation pathway
M Phase pathway
Cellular Senescence pathway
TCF dependent signaling in response to WNT pathway
Meiotic recombination pathway
Chromatin organization pathway
RNA Polymerase I Promoter Opening pathway
RNA Polymerase I Chain Elongation pathway
Mitotic Prophase pathway
RMTs methylate histone arginines pathway
Chromatin modifying enzymes pathway
Homologous recombination repair of replication-independent double-strand breaks pathway
Cell Cycle, Mitotic pathway
RNF mutants show enhanced WNT signaling and proliferation pathway
formation of the beta-catenin:TCF transactivating complex pathway
ATM mediated response to DNA double-strand break pathway
RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription pathway
Senescence-Associated Secretory Phenotype (SASP) pathway
Assembly of the RAD50-MRE11-NBS1 complex at DNA double-strand breaks pathway
Meiosis pathway
XAV939 inhibits tankyrase, stabilizing AXIN pathway
Oxidative Stress Induced Senescence pathway
ATM mediated phosphorylation of repair proteins pathway
Gene Expression pathway
Disease pathway
DNA Repair pathway
Negative epigenetic regulation of rRNA expression pathway
Regulatory RNA pathways pathway
KEGG
Systemic lupus erythematosus pathway
INOH
PID BIOCARTA
PID NCI
Fanconi anemia pathway
ATM pathway
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene
RefSeq NM_002105
HUGO
OMIM
CCDS CCDS8410
HPRD 03465
IMGT
EMBL
GenPept
RNA Seq Atlas