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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

H2AFX Gene

protein-coding GIFtS: 65
GCID: GC11M118998

H2A histone family, member X

(Previous symbol: H2AX)

Explore 54 diseases affiliated with
H2AFX via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
H2A Histone Family, Member X¹ ²		H2AX Histone²
H2AX¹ ² ³ ⁵		Histone H2A.X²
H2A.X²		H2a/X¹
H2A/X²

External Ids:	HGNC: 4739¹	Entrez Gene: 3014²	Ensembl: ENSG00000188486⁷	OMIM: 601772⁵	UniProtKB: P16104³

Export aliases for H2AFX gene to outside databases

Previous GC identifers: GC11U990060 GC11M120476 GC11M118502 GC11M118469 GC11M114904

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene 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, Jul 2008)

UniProtKB/Swiss-Prot: H2AX_HUMAN, P16104

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 Wiki entry for H2AFX

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000011.9 NC_018922.1 NT_033899.8

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the H2AFX gene promoter:
c-Fos GATA-3 p53 AP-1 GATA-2 GATA-1 YY1 c-Jun
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: H2AFX promoter sequence

Search SABiosciences Chromatin IP Primers for H2AFX

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat H2AFX

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q23.3 Ensembl cytogenetic band: 11q23.3 HGNC cytogenetic band: 11q23.3

H2AFX Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
H2AFX gene location

GeneLoc information about chromosome 11 GeneLoc Exon Structure

GeneLoc location for GC11M118998: view genomic region (about GC identifiers)

Start:	118,964,564 bp from pter	End:	118,966,177 bp from pter
Size:	1,614 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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 and MCPH1 when phosphorylated

at Ser-140 or Tyr-143. Interacts with ARRB2; the interaction is detected in the nucleus upon OR1D2 stimulation

Subcellular location: Nucleus. Chromosome

Developmental stage: Synthesized in G1 as well as in S-phase

6 PDB 3D structures from and Proteopedia for H2AFX:

2D31 (3D)

2DYP (3D)

3SHV (3D)

3SQD (3D)

3SZM (3D)

3U3Z (3D)

Secondary accessions: Q4ZGJ7 Q6IAS5

Explore the universe of human proteins at neXtProt for H2AFX: NX_P16104

Post-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 (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 events¹

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)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P16104

H2AFX Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_002096.1

ENSEMBL proteins:

ENSP00000434024 ENSP00000364310

Reactome Protein details: P16104
Human Recombinant Protein Products:

	EMD Millipore Purified and/or Recombinant H2AFX Protein
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	Enzo Life Sciences proteins for H2AFX
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	GenScript Custom Purified and Recombinant Proteins Services for H2AFX
	Novus Biologicals H2AFX Proteins Novus Biologicals H2AFX Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for H2AFX

Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000781	colocalizes with chromosome, telomeric region	IDA	15149599
GO:0000785	chromatin	--	--
GO:0000786	nucleosome	NAS	--
GO:0000790	nuclear chromatin	IEA	--
GO:0000794	condensed nuclear chromosome	IEA	--

H2AFX for ontologies About GeneDecksing

H2AFX Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of H2AFX
	R&D Systems Antibodies for H2AFX (Histone H2AX)
	Cell Signaling Technology (CST) Antibodies for H2AFX (H2AX)
	OriGene Antibodies: H2AFX OriGene Custom Antibody Services for H2AFX
	GenScript Superior Antibodies for H2AFX
	Novus Biologicals H2AFX Antibodies
	Abcam antibodies for H2AFX
	Uscn Antibodies for H2AFX
	ThermoFisher Antibody for H2AFX

Assay Products for H2AFX:

	EMD Millipore Kits and Assays for the Analysis of H2AFX
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	R&D Systems ELISAs for H2AFX (Histone H2AX)
	GenScript Custom Assay Services for H2AFX
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for H2AFX

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

H2AFX for domains About GeneDecksing

3 InterPro domains/families:

IPR009072 Histone-fold

IPR007125 Histone_core_D

IPR002119 Histone_H2A

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, P16104

Domain: The [ST]-Q motif constitutes a recognition sequence for kinases from the PI3/PI4-kinase family

Similarity: Belongs to the histone H2A family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: H2AX_HUMAN, P16104

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

Genatlas biochemistry entry for H2AFX:

histone family 2,replacement subtype,replication independent protein,species H2A-X

miRNA Products:		OriGene 3'-UTR Clone: H2AFX Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat H2AFX
		8/13 QIAGEN miScript miRNA Assays for microRNAs that regulate H2AFX (see all 13):
		hsa-miR-22 hsa-miR-4264 hsa-miR-328 hsa-miR-938 hsa-miR-218 hsa-miR-1291 hsa-miR-455-3p hsa-miR-501-5p

		SwitchGear 3'UTR luciferase reporter plasmid: H2AFX 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for H2AFX (see all 7) OriGene shRNA RFP: H2AFX OriGene siRNA: H2AFX
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat H2AFX

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for H2AFX

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for H2AFX (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for H2AFX (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: H2AFX (NM_002105)
		Sino Biological Human cDNA Clone for H2AFX
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for H2AFX
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat H2AFX

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for H2AFX
		Search LifeMap BioReagents cell lines for H2AFX

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for H2AFX

Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table

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	--
GO:0019899	enzyme binding	IPI	19234442
GO:0042393	histone binding	IPI	19234442

H2AFX for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-outs for H2AFX: H2afx^tm1Nus H2afx^tm1Fwa
     10 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for H2afx):

cardiovascular system	cellular	endocrine/exocrine gland	growth/size	hematopoietic system
immune system	mortality/aging	reproductive system	tumorigenesis	vision/eye

H2AFX for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/17 super-pathways (see all 17) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Meiotic Synapsis

Meiotic Synapsis	1.00	Packaging Of Telomere Ends	0.54
Telomere clustering at the nuclear membrane	0.82	Telomere Maintenance	0.38
Meiosis	0.70	Meiotic Recombination	0.32
Chromosome Maintenance	0.56

Recruitment of repair and signaling proteins to double-strand breaks

Recruitment of repair and signaling proteins to double-strand breaks	1.00	MRN complex relocalizes to nuclear foci	0.50
ATM mediated response to DNA double-strand break	0.62	Assembly of the RAD50-MRE11-NBS1 complex at DNA double-strand breaks	0.50
ATM mediated phosphorylation of repair proteins	0.62

RSF Complex Binds the Centromere.

	RSF Complex Binds the Centromere.	1.00			Deposition of New CENPA-containing Nucleosomes at the Centromere	1.00
	Nucleosome assembly	1.00			Deposition of New CENPA-containing Nucleosomes at the Centromere.	0.96

Homologous Recombination Repair

	Homologous Recombination Repair	1.00			Double-Strand Break Repair	0.71
	Homologous recombination repair of replication-independent double-strand breaks	1.00

Signal transduction Activin A signaling regulation

	Signal transduction Activin A signaling regulation	1.00			Histone modification	0.31
	Signal transduction_Activin A signaling regulation	0.96

Pathway sources
See GeneCards unified pathways
Show all pathways

3 EMD Millipore Pathways for H2AFX

	Histone modification
	Signal transduction Activin A signaling regulation
	DNA damage Role of Brca1 and Brca2 in DNA repair

1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for H2AFX

ATM Pathway

1 Cell Signaling Technology (CST) Pathway for H2AFX

Chromatin Regulation / Acetylation

2 GeneGo (Thomson Reuters) Pathways for H2AFX

	DNA damage Role of Brca1 and Brca2 in DNA repair
	Signal transduction Activin A signaling regulation

3 BioSystems Pathways for H2AFX

	miRNAs involved in DDR
	DNA damage response
	Proteasome Degradation

5/26 Reactome Pathways for H2AFX (see all 26)

	ATM mediated response to DNA double-strand break
	Telomere Maintenance
	DNA Repair
	Nucleosome assembly
	Recruitment of repair and signaling proteins to double-strand breaks

1 Kegg Pathway (Kegg details for H2AFX):

Systemic lupus erythematosus

H2AFX for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for H2AFX

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/601 Interacting proteins for H2AFX (P16104^{1, 2, 3} ENSP00000364310⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 601)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HIST1H4A	P62805²^,³, ENSP00000352980⁴	MINT-7914854 MINT-7899812 I2D: score=15 STRING: ENSP00000352980
HIST1H4L	P62805²^,³, ENSP00000348258⁴	MINT-7914854 MINT-7899812 I2D: score=15 STRING: ENSP00000348258
HIST4H4	P62805²^,³, ENSP00000350767⁴	MINT-7914854 MINT-7899812 I2D: score=15 STRING: ENSP00000350767
HIST1H4B	P62805²^,³	MINT-7914854 MINT-7899812 I2D: score=15
HIST1H4C	P62805²^,³	MINT-7914854 MINT-7899812 I2D: score=15

About this table

Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10): About this table

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:0006334	nucleosome assembly	NAS	2587254

H2AFX for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

H2AFX for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for H2AFX
10/36 Novoseek chemical compound relationships for H2AFX gene (see all 36) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
7-hydroxystaurosporine	67.8	1	17406032 (1)
aphidicolin	60.3	6	17169990 (1), 18616816 (1), 15655354 (1), 16672000 (1)
topotecan	60.2	17	18459160 (5), 16426422 (3), 18802408 (2), 16760673 (2) (see all 8)
camptothecin	59.6	4	18285460 (1), 19557000 (1), 16407843 (1), 14504478 (1)
methylmethanesulfonate	57.7	2	14643438 (1), 15381075 (1)
etoposide	57.1	12	19516899 (2), 18922022 (1), 18285460 (1), 19109557 (1) (see all 9)
adozelesin	56.8	1	14643438 (1)
calicheamicin	54.2	3	19516899 (2), 12606118 (1)
mitoxantrone	51.5	14	16760673 (4), 18459160 (4), 18802408 (2), 16184611 (1) (see all 7)
wortmannin	49.2	4	15389585 (2), 20205745 (1), 17167777 (1)

Search CenterWatch for drugs/clinical trials and news about H2AFX / H2AX

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for H2AFX gene:

NM_002105.2

Unigene Cluster for H2AFX:

H2A histone family, member X

Hs.477879 [show with all ESTs]

Unigene Representative Sequence: BM917453

2 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000530167(uc001pvg.3) ENST00000375167

miRNA Products:		OriGene 3'-UTR Clone: H2AFX Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat H2AFX
		8/13 QIAGEN miScript miRNA Assays for microRNAs that regulate H2AFX (see all 13):
		hsa-miR-22 hsa-miR-4264 hsa-miR-328 hsa-miR-938 hsa-miR-218 hsa-miR-1291 hsa-miR-455-3p hsa-miR-501-5p

		SwitchGear 3'UTR luciferase reporter plasmid: H2AFX 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for H2AFX (see all 7) OriGene shRNA RFP: H2AFX OriGene siRNA: H2AFX
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat H2AFX

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for H2AFX (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for H2AFX (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: H2AFX (NM_002105)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for H2AFX
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat H2AFX

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for H2AFX Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat H2AFX
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat H2AFX
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat H2AFX

Additional cDNA sequence:

BC004915.2 BC011694.2 BC013416.2 CR457079.1 X14850.1

10 DOTS entries:

DT.95318297 DT.40219073 DT.95318293 DT.120752112 DT.100785924 DT.100785920 DT.95318235 DT.120752100

DT.95318305 DT.317312

24/434 AceView cDNA sequences (see all 434):

BQ448125 BM767514 BC011694 BQ896883 BM830044 AI521429 AA443907 BQ954904

BM929922 AW949942 BM762587 BM840793 BM767689 BQ643962 AI318105 BM767501

AI198285 BQ057131 AI363026 BM840436 BM766689 BM128191 BF797344 BM844983

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

H2AFX expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GAAAGAGCTG

About this image
See H2AFX Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for H2AFX

SOURCE GeneReport for Unigene cluster: Hs.477879

SABiosciences Expression via Pathway-Focused PCR Array including H2AFX:

DNA Damage Signaling Pathway in human mouse rat

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for H2AFX gene from 8/29 species (see all 29) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	LOC100857391¹	histone H2A.x-like	79.25(n) 88.11(a)		100857391 XM_003642587.1 XP_003642635.1
lizard (Anolis carolinensis)	Reptilia	-- -- (see all 4)	--	83(a) 82(a) (see all 4)	1 ↔ many 1 ↔ many (see all 4)	2(192891563-192891991) 2(192904087-192904521)
African clawed frog (Xenopus laevis)	Amphibia	Xl.18740²	Xenopus laevis transcribed sequence with strong similarity more	81.47(n)		BI477765.1
zebrafish (Danio rerio)	Actinopterygii	h2afx¹	H2A histone family, member X	75.82(n) 88.73(a)		394048 NM_201073.1 NP_957367.1
fruit fly (Drosophila melanogaster)	Insecta	His2A:CG33817⁶ His2A:CG33829⁶ (see all 20)	His2A:CG33829 (see all 20)	88(a) 88(a) (see all 20)	possible ortholog possible ortholog (see all 20)	2L(21458012-21458580) 2L(21478201-21478769)
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	HTA1¹	Hta1p	60.68(n) 78.12(a)		851811 NP_010511.3
thale cress (Arabidopsis thaliana)	eudicotyledons	HTA12¹	histone H2A 12	56.79(n) 67.41(a)		831891 NM_001203279.1 NP_001190208.1
rice (Oryza sativa)	Liliopsida	Os05g0461400¹	hypothetical protein	71.22(n) 67.63(a)		4339022 NM_001062297.1 NP_001055762.1

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for H2AFX gene

HIST3H2A² HIST1H2AD² HIST2H2AA3² HIST2H2AB² HIST1H2AI² HIST1H2AG² HIST1H2AC² HIST1H2AH²

HIST1H2AM² HIST1H2AJ² HIST2H2AA4² HIST1H2AE² HIST2H2AC² HIST1H2AB² HIST1H2AK² HIST1H2AL²

H2AFJ²

18/26 SIMAP similar genes for H2AFX using alignment to 1 protein entry: H2AX_HUMAN(see all similar genes):

HIST1H2AA HIST2H2AB H2AFJ HIST1H2AB HIST1H2AC HIST1H2AD

HIST1H2AE HIST1H2AG HIST1H2AH HIST1H2AI HIST1H2AJ HIST1H2AK

HIST1H2AL HIST1H2AM HIST2H2AA3 HIST2H2AA4 HIST2H2AC HIST3H2A

H2AFX for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 11 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs28990983^1,2	C,F,	--	114903718(-)	`CACACG/ACGCAC`	4	--	ds500¹		8		NS WA	310
rs28990982^1,2	C	--	114904028(-)	`AATGGA/CGCATT`	4	--	ds500¹		5		NS	188
rs113101904^1,2	C	--	114904063(+)	`AAATTT/AGTCCA`	4	--	ds500¹		1		CSA	1
rs28990981^1,2	C,F,H,	--	114904109(-)	`GCTAAC/ACCTTC`	4	--	ds500¹		12		NS NA WA	638
rs184830332^1,2		--	118964127(+)	`TCCAGC/GGATTT`	5	--	ds500¹ ut3¹		0	--	--	--	--
rs146519649^1,2		--	118964301(+)	`ACAAAC/GACAAA`	5	--	ds500¹		0	--	--	--	--
rs640603^1,2	C,F,A,H,	--	118964330(+)	`CAGAGG/ACTGGG`	5	--	ds500¹		30		MN EA NS NA WA	4546
rs7103570^1,2	C,F,H,	--	118964577(+)	`ACAAAT/CGCTCC`	5	--	ds500¹		18		NS NA WA CSA EA	566
rs189422596^1,2		--	118964674(+)	`CAGAAC/TTCCAG`	5	--	ut3¹ ds500¹		0	--	--	--	--
rs181068631^1,2		--	118964956(+)	`CGTCCC/TGGCCC`	1	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for H2AFX (118964564 - 118966177 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for H2AFX: --

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

H2AFX for disorders           About GeneDecksing

OMIM gene information: 601772    OMIM disorders: --

20/54 diseases for H2AFX (see all 54):    About MalaCards

nijmegen breakage syndrome diffuse large b-cell lymphoma dna topoisomerase i adenomatous polyposis coli

b-cell lymphomas non-hodgkin lymphoma ataxia telangiectasia bloom syndrome

fanconi's anemia mantle cell lymphoma riddle syndrome systemic lupus erythematosus

renal cell carcinoma seckel syndrome lupus erythematosus hodgkin's lymphoma

breast cancer susceptibility sporadic breast cancer breast cancer werner syndrome

5 diseases from the University of Copenhagen DISEASES database for H2AFX:

Cancer Ataxia telangiectasia Nijmegen breakage syndrome Fanconi's anemia

Werner syndrome

10/23 Novoseek disease relationships for H2AFX gene (see all 23) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
ataxia telangiectasia	87.6	34	15059890 (2), 16360120 (1), 16567133 (1), 18560558 (1) (see all 29)
nijmegen breakage syndrome	83.9	3	14712078 (1), 17183606 (1), 20173316 (1)
bloom syndrome	59.4	1	14712078 (1)
cancer	51	11	12914701 (1), 14712078 (1), 18616816 (1), 15610743 (1) (see all 10)
chromosomal aberrations	48.4	8	16093433 (1), 16618761 (1), 16394631 (1), 17471025 (1) (see all 8)
tumors	39	30	12914700 (3), 12914701 (2), 19190126 (2), 15279782 (1) (see all 23)
fanconis anemia	32.9	1	17471025 (1)
lung carcinoma	31.3	4	16820894 (1), 16760673 (1), 18459160 (1), 19658174 (1)
osteosarcoma	18.7	1	17015833 (1)
solid tumor	13.8	1	12914700 (1)

Human Genome Epidemiology (HuGE) Navigator: H2AFX (7 documents)

Export disorders for H2AFX gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for H2AFX gene, integrated from 9 sources (see all 513):
(articles sorted by number of sources associating them with H2AFX)

Utopia: connect your pdf to the dynamic
world of online information

ATM and DNA-PK function redundantly to phosphorylate H2AX after exposure to ionizing radiation. (PubMed id 15059890)^{1, 2, 9} 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, 2, 9} 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, 2, 9} 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, 2, 9} Paull T.T....Bonner W.M. (2000)
MDC1 is a mediator of the mammalian DNA damage checkpoint. (PubMed id 12607005)^{1, 2, 9} 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, 2, 9} Kurz E.U.... Lees-Miller S.P. (2004)
Tyrosine dephosphorylation of H2AX modulates apoptosis and survival decisions. (PubMed id 19234442)^{1, 2, 9} Cook P.J.... Rosenfeld M.G. (2009)
NBS1 localizes to gamma-H2AX foci through interaction with the FHA/BRCT domain. (PubMed id 12419185)^{1, 2, 9} Kobayashi J.... Komatsu K. (2002)
Megabase chromatin domains involved in DNA double-strand breaks in vivo. (PubMed id 10477747)^{1, 2, 9} Rogakou E.P.... Bonner W.M. (1999)
RNF168 ubiquitinates K13-15 on H2A/H2AX to drive DNA Damage signaling. (PubMed id 22980979)^{1, 2} Mattiroli F.... Sixma T.K. (2012)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 3014	HGNC: 4739	AceView: H2AFX	Ensembl:ENSG00000188486	euGenes: HUgn3014
ECgene: H2AFX	Kegg: 3014	H-InvDB: H2AFX

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for H2AFX	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for H2AFX	Genetics and Cytogenetics in Oncology and Haematology
NIEHS-SNPs	http://egp.gs.washington.edu/data/h2afx/

Intellectual Property for H2AFX gene
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Patent Information for H2AFX gene:
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