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 | Services
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Aliases &
Descriptions
for H2AFX
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase)
About This Section
|
| Aliases |
|---|
| H2A.X 2 | | H2A/X 2 | | H2AX 2, 3 | | H2a/x 3 |
| | | Descriptions |
|---|
| H2A histone family, member X 2 | | H2AX histone 2 |
|
| |
Search outside databases for aliases for H2AFX genePrevious GC identifers: GC11U990060 GC11M120476 GC11M118998 GC11M118502 |
Summaries
for H2AFX(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for H2AFX:
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]
UniProtKB/Swiss-Prot: H2AX_HUMAN, P16104Function: 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 phosphorylationGene Wiki entry for H2AFX |
Genomic Location
for H2AFX
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences)
About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
 Transcription factor binding sites upstream to the H2AFX gene 
Entrez Gene cytogenetic band: 11q23.2-q23.3 Ensembl cytogenetic band: 11q23.3 HGNC cytogenetic band: 11q23.3H2AFX Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc gene densities for chromosome 11 GeneLoc Exon Structure GeneLoc location for GC11M118469:
(about GC identifiers)
Start:
|
118,469,794 bp from pter |
End:
|
118,471,387 bp from pter |
Size:
|
1,594 bases |
Orientation:
|
minus strand |
RefSeq DNA sequence:- NC_000011.8 NT_033899.7
| Proteins
for H2AFX
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: H2AX_HUMAN, P16104 (See
protein sequence)Recommended Name: Histone H2A.x Size: 143 amino acids; 15145 Da
Subunit: 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
Subcellular location: Nucleus
Developmental stage: Synthesized in G1 as well as in S-phase
PDB structure from  and Proteopedia  :2D31 (3D)
2DYP (3D)
Secondary accessions: Q4ZGJ7 Q6IAS5Post-translational modifications:
Phosphorylated on Ser-140 (to form gamma-H2AFX 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)1
Monoubiquitination of Lys-120 (H2AXK119ub) by RING1 and RNF2/RING2 complex 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 the E2 ligase UBE2N and the E3
ligases RNF8 and RNF168, leading to the recruitment of repair proteins to sites of DNA damage.
Monoubiquitination and ionizing radiation-induced 'Lys-63'-linked ubiquitination are distinct
events1
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_002096.1
ENSEMBL proteins: ENSP00000364310
Human Recombinant Proteins  OriGene Purified Recombinant Human Protein: H2AFX
5/7 Gene Ontology (GO) cellular component terms (links to tree view) (see all 7
): About this table
Antibodies for H2AFX:
Assays for H2AFX: | Protein
Domains/
Families
for H2AFX(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry P16104
ProtoNet protein and cluster: P16104 1 Blocks protein family: IPB002119 Histone H2A
UniProtKB/Swiss-Prot: H2AX_HUMAN, P16104Domain: The [ST]-Q motif constitutes a recognition sequence for kinases from the PI3/PI4-kinase
familySimilarity: Belongs to the histone H2A family | Gene Function
for H2AFX
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
| OriGene 29mer shRNA kit in GFP-retroviral vector: NM_002105
 Applied Biosystems Silencer® siRNAs for H2AFX
 Sigma-Aldrich siRNA for H2AFX
Sigma-Aldrich shRNA Panels and shRNA for H2AFX
Explore Sigma-Aldrich super-pooled esiRNAs
OriGene GFP tagged cDNA clone in CMV expression vector: NM_002105
Myc/DDK tagged cDNA clone in CMV expression vector: NM_002105
untagged cDNA clones in CMV expression vector (see all 2): NM_002105
Primers:  Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
OriGene genome-wide validated SYBR primer pairs: NM_002105
UniProtKB/Swiss-Prot: H2AX_HUMAN, P16104Function: 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 phosphorylationGenatlas biochemistry entry for H2AFX:histone family 2,replacement subtype,replication independent protein,species H2A-X8 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for H2afx):
2 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions
for H2AFX
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|
1 Sigma-Aldrich "Your Favorite Gene" Pathway for H2AFX (Your Favorite Gene powered by Ingenuity)
Gene Network CentralTM Interacting Genes and Proteins Network for H2AFX
5/241 Interacting proteins for H2AFX (ENSP000003643103 P161041, 2) via UniProtKB, MINT, and/or STRING (see all 241
)About this table
5/8 Gene Ontology (GO) biological process terms (links to tree view) (see all 8
): About this table
|
Drugs & Compounds
for H2AFX(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
 Browse Tocris compounds for H2AFX
10  Novoseek chemical compound relationships for H2AFX gene
| Compound |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| wortmannin |
50.17 |
3 |
15389585 (2), 17167777 (1) |
| phosphatidylinositol |
31.80 |
2 |
15389585 (1), 16093433 (1) |
| benzo(a)pyrene |
23.43 |
7 |
18160332 (2), 18096571 (1), 18848825 (1), 16256111 (1) (see all 5) |
| deoxyribonucleic acid |
22.49 |
8 |
15172403 (2), 17969164 (1), 18520822 (1) |
| phosphoinositide |
16.16 |
4 |
17594478 (1), 19252467 (1), 16531125 (1) |
| oxygen |
11.04 |
12 |
16820894 (2), 16861926 (2), 18344416 (2), 17179479 (1) (see all 8) |
| bromodeoxyuridine |
3.82 |
1 |
15455410 (1) |
| superoxide |
0.00 |
1 |
16377079 (1) |
| nacl |
0.00 |
1 |
15603752 (1) |
| gold |
0.00 |
1 |
16129552 (1) |
About this table
|
Transcripts
for H2AFX(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene,
Expression Assays from Applied Biosystems)
About This Section
| OriGene 29mer shRNA kit in GFP-retroviral vector: NM_002105
Sigma-Aldrich siRNA for H2AFX
Sigma-Aldrich shRNA Panels and shRNA for H2AFX
Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer® siRNAs: NM_002105 REFSEQ mRNAs for H2AFX gene: NM_002105.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_002105
OriGene GFP tagged cDNA clone in CMV expression vector: NM_002105
Myc/DDK tagged cDNA clone in CMV expression vector: NM_002105
untagged cDNA clones in CMV expression vector (see all 2): NM_002105
Additional cDNA sequence: BC004915.2 BC011694.2 BC013416.2 CR457079.1 CR605072.1 X14850.1 10 DOTS entries: DT.95318297 DT.40219073 DT.95318293 DT.120752112 DT.100785924 DT.100785920 DT.120752100 DT.95318235 DT.317312 DT.95318305 24/434 AceView cDNA sequences (see all 434
):BQ689017 BG749655 AI521429 BQ057131 BG696023 BQ896883 BM841758 BU736476 BM766729 AW515501 BU624170 BM767514 AI283179 BU623848 BQ643962 BM830044 AI363026 BM766689 BM766740 BM767422 BM767129 AI318105 BU856600 BM850195
 highest scoring ESTs for H2AFX:X14850 AA251671 AA252011 AA252330 AA252351 AA286894 AA397603 AA399475 AA402261 AA425209 Unigene Cluster for H2AFX: H2A histone family, member X Hs.477879 [show with all ESTs]Unigene Representative Sequence: BM917453
GeneLoc Exon Structure
1 Ensembl transcript including schematic representation: ENST00000375167
|
Expression
for H2AFX
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| H2AFX expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for H2AFX
1 / 2 / 3 9 probe-sets matching H2AFX gene Data from
(Publications) and GNF BioGPS
About these images
About these images
CGAP SAGE TAG: GAAAGAGCTG
SOURCE GeneReport for Unigene cluster: Hs.477879
Expression variation in blood from EXPOLDB for H2AFX |
Orthologs
for H2AFX
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for H2AFX gene from 5/21 species (see all 21
)
About this table Species with no ortholog for H2AFX
ENSEMBL Gene Tree for H2AFX | Paralogs
for H2AFX(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section
| -- |
SNPs/Variants
for H2AFX(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for H2AFX (up to first 250kb)
|
Disorders & Mutations
for H2AFX
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 601772
10/21 Novoseek disease relationships for H2AFX gene (see all 21
)
| Disease |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| ataxia telangiectasia |
86.36 |
28 |
15059890 (2), 16360120 (1), 16567133 (1), 18560558 (1) (see all 24) |
| nijmegen breakage syndrome |
83.20 |
2 |
14712078 (1), 17183606 (1) |
| bloom syndrome |
62.23 |
1 |
14712078 (1) |
| cancer |
47.20 |
11 |
12914701 (1), 14712078 (1), 18616816 (1), 15610743 (1) (see all 10) |
| chromosomal aberrations |
45.67 |
7 |
16093433 (1), 16618761 (1), 16394631 (1), 17471025 (1) (see all 7) |
| tumors |
38.27 |
29 |
12914700 (3), 12914701 (2), 19190126 (2), 15279782 (1) (see all 22) |
| lung carcinoma |
30.61 |
3 |
16820894 (1), 16760673 (1), 18459160 (1) |
| fanconis anemia |
15.74 |
1 |
17471025 (1) |
| osteosarcoma |
11.64 |
1 |
17015833 (1) |
| colon cancer |
10.30 |
1 |
18454178 (1) |
About this table
Human Genome Epidemiology Navigator: H2AFX (5 documents)
|
Medical News
for H2AFX(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications
for H2AFX (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/336 PubMed articles for H2AFX gene (see all 336
):- ATM and DNA-PK function redundantly to phosphorylate H2AX after exposure to ionizing radiation. (PubMed id 15059890)1, 3, 4 Stiff T....Jeggo P.A. (2004)
- Accumulation of checkpoint protein 53BP1 at DNA breaks involves its binding to phosphorylated histone H2AX. (PubMed id 12697768)1, 3, 4 Ward I.M.... Chen J. (2003)
- DNA-PK is activated by nucleosomes and phosphorylates H2AX within the nucleosomes in an acetylation-dependent manner. (PubMed id 14627815)1, 3, 4 Park E.-J.... Kwon J. (2003)
- A critical role for histone H2AX in recruitment of repair factors to nuclear foci after DNA damage. (PubMed id 10959836)1, 3, 4 Paull T.T....Bonner W.M. (2000)
- MDC1 is a mediator of the mammalian DNA damage checkpoint. (PubMed id 12607005)1, 3, 4 Stewart G.S....Elledge S.J. (2003)
- Doxorubicin activates ATM-dependent phosphorylation of multiple downstream targets in part through the generation of reactive oxygen species. (PubMed id 15489221)1, 3, 4 Kurz E.U.... Lees-Miller S.P. (2004)
- NBS1 localizes to gamma-H2AX foci through interaction with the FHA/BRCT domain. (PubMed id 12419185)1, 3, 4 Kobayashi J.... Komatsu K. (2002)
- WSTF regulates the H2A.X DNA damage response via a novel tyrosine kinase activity. (PubMed id 19092802)3, 4 Xiao A....Allis C.D. (2009)
- RNF8 transduces the DNA-damage signal via histone ubiquitylation and checkpoint protein assembly. (PubMed id 18001825)3, 4 Huen M.S....Chen J. (2007)
- Actinomycin D induces histone gamma-H2AX foci and complex formation of gamma-H2AX with Ku70 and nuclear DNA helicase II. (PubMed id 15613478)3, 4 Mischo H.E.... Zhang S. (2005)
|
Search for H2AFX
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing H2AFX
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing H2AFX
(According to HUGE)
About This Section
| -- |
Specialized Databases showing H2AFX(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| About This Section
| --
| Services
for H2AFX(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section
| 
Products for H2AFX:
 | |
 | | | | |
 |
 |  |  | |
 | Antibodies & Assays for H2AFX (Histone H2A.X) |
| | | | | Search Tocris compounds for H2AFX |
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