H2AX (H2A.X variant histone) - Rat Genome Database

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Gene: H2AX (H2A.X variant histone) Homo sapiens
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Symbol: H2AX
Name: H2A.X variant histone
RGD ID: 1346464
HGNC Page HGNC:4739
Description: Enables enzyme binding activity and histone binding activity. Involved in DNA damage checkpoint signaling. Located in centrosome; chromosome; and nuclear speck. Biomarker of oral mucosa leukoplakia and oral squamous cell carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: H2A histone family member X; H2A histone family, member X; H2A.X; H2A/X; H2AFX; H2AX histone; histone H2A.x; histone H2AX
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811119,093,874 - 119,095,465 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11119,093,874 - 119,095,465 (-)EnsemblGRCh38hg38GRCh38
GRCh3711118,964,584 - 118,966,175 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3611118,469,794 - 118,471,387 (-)NCBINCBI36Build 36hg18NCBI36
Build 3411118,469,796 - 118,471,387NCBI
Celera11116,121,998 - 116,123,592 (-)NCBICelera
Cytogenetic Map11q23.3NCBI
HuRef11114,904,032 - 114,905,625 (-)NCBIHuRef
CHM1_111118,850,886 - 118,852,479 (-)NCBICHM1_1
T2T-CHM13v2.011119,114,257 - 119,115,848 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP)
(+)-dexrazoxane  (ISO)
(-)-ephedrine  (ISO)
(-)-epigallocatechin 3-gallate  (ISO)
(1->4)-beta-D-glucan  (ISO)
(S)-nicotine  (EXP)
1,10-phenanthroline  (EXP)
1,2-dimethylhydrazine  (ISO)
1,3-benzothiazole-2-thiol  (EXP)
1,3-dinitrobenzene  (ISO)
1,4-benzoquinone  (EXP,ISO)
1,4-dioxane  (ISO)
1-fluoro-2,4-dinitrobenzene  (EXP)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
1H-pyrazole  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,2'-bipyridine  (EXP)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3-dimethoxynaphthalene-1,4-dione  (EXP)
2,4,6-trinitrotoluene  (ISO)
2,4-diaminotoluene  (EXP,ISO)
2,4-dibromophenol  (ISO)
2-acetamidofluorene  (EXP,ISO)
2-Amino-3-methyl-9H-pyrido[2,3-b]indole  (EXP)
2-Amino-9H-pyrido[2,3-b]indole  (EXP)
2-deoxy-D-glucose  (EXP)
2-methoxy-17beta-estradiol  (EXP)
2-nitroanisole  (ISO)
2-nitrofluorene  (ISO)
2-nitropropane  (ISO)
2-palmitoylglycerol  (EXP)
2-phenylethylamine  (EXP)
2-tert-butylhydroquinone  (EXP,ISO)
3,3',4,4',5-pentachlorobiphenyl  (EXP)
3,3',4,4'-tetrachlorobiphenyl  (EXP)
3,3',5-triiodo-L-thyronine  (EXP)
3,4,8-Trimethyl-1H,2H,3H-imidazo[4,5-F]quinoxalin-2-imine  (EXP)
3,4-methylenedioxymethamphetamine  (EXP)
3-Amino-1-methyl-5H-pyrido[4,3-b]indole  (EXP)
3-methyl-3H-imidazo[4,5-f]quinolin-2-amine  (EXP)
3-methyladenine  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (EXP,ISO)
4-chloroaniline  (EXP)
4-hydroxynon-2-enal  (EXP,ISO)
4-methoxy-TEMPO  (EXP)
4-Nerolidylcatechol  (EXP)
4-nitroquinoline N-oxide  (EXP)
4-nonylphenol  (EXP)
4-tert-Octylphenol  (EXP)
4-vinylcyclohexene dioxide  (EXP)
5'-phosphopyridoxal-6-azobenzene-2,4-disulfonic acid  (EXP)
5-aza-2'-deoxycytidine  (EXP)
5-azacytidine  (EXP,ISO)
5-chloro-7-iodoquinolin-8-ol  (EXP)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
680C91  (EXP)
7,12-dimethyltetraphene  (EXP,ISO)
7,9-dihydro-1H-purine-2,6,8(3H)-trione  (ISO)
9-aminoacridine  (EXP)
[6]-Shogaol  (EXP)
ABT-737  (EXP)
acetylsalicylic acid  (EXP)
acrolein  (EXP)
acrylamide  (ISO)
acrylonitrile  (ISO)
actinomycin D  (EXP)
adenosine  (EXP)
adenosine 5'-monophosphate  (EXP)
ADP  (EXP)
aflatoxin B1  (EXP,ISO)
Aflatoxin G1  (EXP,ISO)
aldehydo-D-glucose  (ISO)
alizarin  (EXP)
all-trans-retinoic acid  (EXP,ISO)
alternariol  (EXP)
alvocidib  (EXP)
amsacrine  (EXP)
anthocyanin  (EXP)
anthra[1,9-cd]pyrazol-6(2H)-one  (EXP)
aphidicolin  (EXP)
aristolochic acid A  (EXP,ISO)
arsane  (EXP,ISO)
arsenic atom  (EXP,ISO)
arsenic trichloride  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP,ISO)
artesunate  (EXP)
ATP  (EXP)
atrazine  (ISO)
auramine O  (ISO)
azathioprine  (EXP)
Benz[c]acridine  (EXP)
benzene  (ISO)
benzidine  (EXP,ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP,ISO)
benzo[e]pyrene  (EXP)
Benzo[ghi]perylene  (EXP)
berberine  (EXP)
beta-hexachlorocyclohexane  (EXP)
biphenyl-4-amine  (EXP)
bis(2-chloroethyl) sulfide  (EXP)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP,ISO)
bisphenol F  (EXP,ISO)
bleomycin A2  (EXP)
bortezomib  (EXP,ISO)
bromoethene  (ISO)
bupivacaine  (ISO)
busulfan  (EXP)
Butylbenzyl phthalate  (ISO)
butyric acid  (EXP,ISO)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
caffeine  (EXP,ISO)
calciol  (EXP)
calcitriol  (EXP)
camptothecin  (EXP,ISO)
cannabidiol  (EXP)
capsaicin  (EXP)
carbamate ester  (EXP)
carbamazepine  (EXP)
carbon nanotube  (EXP,ISO)
carboplatin  (EXP)
carmustine  (EXP)
carteolol  (EXP)
celecoxib  (EXP)
CGP 52608  (EXP)
chlorambucil  (EXP)
chlordecone  (ISO)
chlorite  (ISO)
chloropicrin  (EXP)
chloroprene  (ISO)
chlorpyrifos  (EXP,ISO)
cholesterol  (ISO)
choline  (ISO)
chromium(6+)  (EXP,ISO)
chromone  (EXP)
Cinobufagin  (EXP)
cisplatin  (EXP,ISO)
clofarabine  (EXP)
cobalt dichloride  (EXP,ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
crizotinib  (EXP)
CU-O LINKAGE  (EXP)
curcumin  (EXP)
CX-5461  (EXP)
cyclophosphamide  (EXP,ISO)
cyclosporin A  (EXP)
cyhalothrin  (EXP)
cylindrospermopsin  (EXP)
cypermethrin  (ISO)
cyprodinil  (EXP)
cytarabine  (EXP)
D-glucose  (ISO)
daunorubicin  (EXP)
decabromodiphenyl ether  (ISO)
dexamethasone  (EXP)
diallyl trisulfide  (EXP)
diarsenic trioxide  (EXP,ISO)
diazinon  (EXP)
dibenz[a,h]anthracene  (EXP)
Dibenz[a,j]acridine  (EXP)
Dibenz[c,h]acridine  (EXP)
dibenziodolium  (EXP)
dibenzo[a,l]pyrene  (EXP)
dibutyl phthalate  (ISO)
dichlorine  (ISO)
diclofenac  (EXP)
diepoxybutane  (ISO)
diethylstilbestrol  (ISO)
dihydroxyacetone  (EXP)
dimethoate  (EXP)
dimethocaine  (EXP)
dioxygen  (EXP)
disodium selenite  (EXP,ISO)
Disperse Blue 1  (ISO)
disulfiram  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
dronedarone  (EXP)
Echimidine  (EXP)
elemental selenium  (EXP)
ellipticine  (EXP)
emodin  (EXP)
enilconazole  (EXP)
Enterolactone  (EXP)
entinostat  (EXP)
epothilone A  (EXP)
erdosteine  (ISO)
erlotinib hydrochloride  (EXP)
erucifoline  (EXP)
estragole  (ISO)
ethanol  (EXP,ISO)
ethyl methanesulfonate  (EXP)
Ethylenethiourea  (ISO)
etoposide  (EXP,ISO)
fenbendazole  (EXP)
fenthion  (EXP)
ferric oxide  (EXP)
flavanones  (EXP)
flavokawain B  (EXP)
fludioxonil  (EXP)
fluoranthene  (EXP,ISO)
flutamide  (ISO)
folic acid  (ISO)
fomepizole  (EXP)
formaldehyde  (EXP)
fotemustine  (EXP)
FR900359  (EXP)
fructose  (ISO)
fulvestrant  (EXP,ISO)
fumonisin B1  (EXP)
furan  (ISO)
GDP  (EXP)
gemcitabine  (EXP)
genistein  (EXP)
gentamycin  (ISO)
Gingerenone A  (EXP)
ginsenoside Rg1  (EXP)
Glu-P-1  (EXP)
Glu-P-2  (EXP)
glucose  (ISO)
glutathione  (EXP,ISO)
glycerol 2-phosphate  (EXP)
glyphosate  (ISO)
GSK690693  (EXP)
GTP  (EXP)
guanosine  (EXP)
Heliotrine  (EXP)
hexachlorobenzene  (EXP)
hydrazine  (ISO)
hydrogen peroxide  (EXP,ISO)
hydroquinone  (EXP,ISO)
hydroxyurea  (EXP,ISO)
IDP  (EXP)
imiquimod  (ISO)
indicine  (EXP)
inosine  (EXP)
intermedine  (EXP)
iprodione  (EXP)
irinotecan  (EXP)
iron(2+) sulfate (anhydrous)  (ISO)
isocyanates  (EXP,ISO)
isoflavones  (EXP)
isoprenaline  (ISO)
isotretinoin  (EXP)
jacobine  (EXP)
kaempferol  (EXP,ISO)
L-ascorbic acid  (EXP)
L-methionine  (ISO)
lapatinib  (EXP)
Lasiocarpine  (EXP,ISO)
lead diacetate  (EXP)
lead(0)  (EXP)
leflunomide  (EXP)
leptomycin B  (EXP)
Licochalcone B  (EXP)
Liensinine  (EXP)
Longikaurin A  (EXP)
lovastatin  (EXP,ISO)
luteolin  (EXP)
LY294002  (EXP)
mancozeb  (EXP)
maneb  (EXP)
manumycin A  (EXP)
mechlorethamine  (ISO)
MeIQ  (EXP)
MeIQx  (EXP)
melatonin  (ISO)
melphalan  (EXP)
menadione  (EXP)
menaquinone  (EXP)
mestranol  (ISO)
metformin  (EXP)
methapyrilene  (EXP,ISO)
methotrexate  (EXP)
methoxsalen  (EXP)
methoxychlor  (EXP)
methyl methanesulfonate  (EXP)
methyllycaconitine  (EXP)
miconazole  (ISO)
microcystin-LR  (EXP)
mitomycin C  (EXP)
mitoxantrone  (EXP,ISO)
mono(2-ethylhexyl) phthalate  (ISO)
monocrotaline  (EXP)
myricetin  (EXP)
N,N-bis(2-hydroxypropyl)nitrosamine  (ISO)
N,N-dimethylformamide  (EXP)
N-acetyl-L-cysteine  (EXP,ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP,ISO)
N-butyl-N-(4-hydroxybutyl)nitrosamine  (ISO)
N-ethyl-N-nitrosourea  (EXP)
N-methyl-4-phenylpyridinium  (EXP)
N-methyl-N'-nitro-N-nitrosoguanidine  (EXP)
N-methyl-N-nitrosourea  (EXP)
N-nitroso-N-methyl-4-aminobutyric acid  (EXP)
N-Nitrosodiethanolamine  (ISO)
N-nitrosodiethylamine  (EXP,ISO)
N-nitrosodimethylamine  (EXP,ISO)
N-Nitrosomethylethylamine  (ISO)
N-Nitrosopyrrolidine  (EXP)
N-Phenyl-1-naphthylamine  (EXP)
n-propyl gallate  (EXP)
nickel atom  (EXP)
nickel dichloride  (EXP)
nicotine  (EXP)
nimesulide  (EXP)
nimustine  (EXP)
niraparib  (EXP)
nitenpyram  (EXP)
nitrogen mustard  (EXP)
Nitrosoheptamethyleneimine  (ISO)
NMN zwitterion  (ISO)
nocodazole  (EXP)
NORCANTHARIDIN  (EXP)
norethisterone  (EXP)
NS-398  (EXP)
NSC 23766  (ISO)
O-methyleugenol  (ISO)
o-toluidine  (EXP)
ochratoxin A  (EXP,ISO)
olaparib  (EXP)
otosenine  (EXP)
ouabain  (EXP)
oxaliplatin  (EXP,ISO)
oxybenzone  (EXP,ISO)
ozone  (ISO)
p-tert-Amylphenol  (EXP)
paclitaxel  (EXP)
palbociclib  (EXP)
palmatine  (EXP)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
paraquat  (ISO)
pectolinarigenin  (EXP)
pentachlorophenol  (ISO)
pentamidine  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
phenanthridone  (EXP)
phenformin  (ISO)
phenobarbital  (EXP,ISO)
phenol  (EXP)
PhIP  (EXP)
phosphoramide mustard  (ISO)
phthalic acid  (EXP)
pifithrin-?  (EXP,ISO)
pinocembrin  (EXP,ISO)
piperonyl butoxide  (ISO)
pirinixic acid  (ISO)
piroxicam  (EXP)
poly(vinylpyrrolidone)  (EXP)
potassium bromate  (ISO)
potassium dichromate  (EXP)
Pranoprofen  (EXP)
procymidone  (EXP)
promethazine  (ISO)
propiconazole  (ISO)
propylparaben  (EXP)
protein kinase inhibitor  (EXP)
pterostilbene  (EXP,ISO)
pyrene  (EXP)
pyrimethamine  (EXP)
pyrrolidine dithiocarbamate  (EXP)
quercetin  (EXP,ISO)
quizartinib  (EXP)
rac-1,2-dichloropropane  (EXP,ISO)
razoxane  (ISO)
reactive oxygen species  (ISO)
remdesivir  (EXP)
resorcinol  (EXP)
resveratrol  (EXP,ISO)
Retrorsine  (EXP)
ribavirin  (EXP)
riddelliine  (EXP,ISO)
romidepsin  (EXP)
rotenone  (EXP,ISO)
rubimaillin  (EXP,ISO)
rucaparib  (EXP)
ruxolitinib  (EXP)
Salinomycin  (EXP)
Satratoxin H  (ISO)
selenium atom  (EXP)
selenocystine  (EXP,ISO)
selinexor  (EXP)
senecionine  (EXP)
seneciphylline  (EXP)
Senkirkine  (EXP)
silibinin  (EXP)
silicon dioxide  (EXP,ISO)
silver atom  (EXP)
silver(0)  (EXP)
simvastatin  (EXP)
sirolimus  (EXP)
sodium arsenite  (EXP,ISO)
sodium chromate  (EXP,ISO)
sodium dichromate  (ISO)
sodium fluoride  (ISO)
sodium nitrite  (ISO)
Sodium salicylate  (EXP)
sterigmatocystin  (EXP)
sulindac  (EXP)
sunitinib  (EXP)
T-2 toxin  (EXP)
temozolomide  (EXP,ISO)
TEMPO  (ISO)
terbufos  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone  (EXP,ISO)
tetrachloromethane  (ISO)
tetraphene  (EXP)
thallium(I) acetate  (EXP)
thapsigargin  (EXP)
Theaflavin 3,3'-digallate  (EXP)
thioacetamide  (ISO)
thymidine  (EXP)
thymoquinone  (EXP)
Tiron  (EXP)
titanium dioxide  (ISO)
Tomentosin  (EXP)
topotecan  (EXP,ISO)
toxaphene  (ISO)
triadimefon  (ISO)
tributylstannane  (EXP,ISO)
trichloroethene  (EXP,ISO)
trichostatin A  (EXP,ISO)
triciribine  (EXP)
trimellitic anhydride  (ISO)
triphenyl phosphate  (EXP,ISO)
Triptolide  (EXP,ISO)
troglitazone  (EXP)
trovafloxacin  (EXP,ISO)
UDP  (EXP)
usnic acid  (EXP)
UTP  (EXP)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
veliparib  (EXP)
versicolorin A  (EXP)
vincristine  (EXP)
vorinostat  (EXP)
wogonin  (EXP)
wortmannin  (EXP)
Xanthatin  (EXP)
yttrium chloride  (ISO)
zearalenone  (ISO)
zebularine  (EXP)
zidovudine  (EXP)
zinc atom  (EXP,ISO)
zinc dichloride  (EXP)
zinc oxide  (ISO)
zinc(0)  (EXP,ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Pressure overload regulates expression of cytokines, gammaH2AX, and growth arrest- and DNA-damage inducible protein 153 via glycogen synthase kinase-3beta in ischemic-reperfused hearts. Baban B, etal., Hypertension. 2013 Jan;61(1):95-104. doi: 10.1161/HYPERTENSIONAHA.111.00028. Epub 2012 Oct 29.
2. ATM protein kinase: the linchpin of cellular defenses to stress. Bhatti S, etal., Cell Mol Life Sci. 2011 Sep;68(18):2977-3006. doi: 10.1007/s00018-011-0683-9. Epub 2011 May 2.
3. Cyclosporine-assisted adipose-derived mesenchymal stem cell therapy to mitigate acute kidney ischemia-reperfusion injury. Chen YT, etal., Stem Cell Res Ther. 2013 May 31;4(3):62.
4. Hepatoprotective effect of 2,3-dehydrosilybin on carbon tetrachloride-induced liver injury in rats. Cho BO, etal., Food Chem. 2013 May 1;138(1):107-15. doi: 10.1016/j.foodchem.2012.10.026. Epub 2012 Nov 6.
5. Phosphorylation of histone H2A.X as an early marker of neuronal endangerment following seizures in the adult rat brain. Crowe SL, etal., J Neurosci. 2011 May 25;31(21):7648-56. doi: 10.1523/JNEUROSCI.0092-11.2011.
6. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
7. Pretreatment of liver grafts in vivo by gamma-aminobutyric acid receptor regulation reduces cold ischemia/warm reperfusion injury in rat. Hori T, etal., Ann Transplant. 2013 Jun 17;18:299-313. doi: 10.12659/AOT.883955.
8. Involvement of multiple cell cycle aberrations in early preneoplastic liver cell lesions by tumor promotion with thioacetamide in a two-stage rat hepatocarcinogenesis model. Kimura M, etal., Exp Toxicol Pathol. 2013 Nov;65(7-8):979-88. doi: 10.1016/j.etp.2013.01.012. Epub 2013 Mar 7.
9. BRCA1 shields vascular smooth muscle cells from oxidative stress. Lovren F, etal., J Thorac Cardiovasc Surg. 2014 Jun;147(6):1946-55, 1955.e1. doi: 10.1016/j.jtcvs.2013.09.060. Epub 2013 Nov 13.
10. Every amino acid matters: essential contributions of histone variants to mammalian development and disease. Maze I, etal., Nat Rev Genet. 2014 Apr;15(4):259-71. doi: 10.1038/nrg3673. Epub 2014 Mar 11.
11. Push back to respond better: regulatory inhibition of the DNA double-strand break response. Panier S and Durocher D, Nat Rev Mol Cell Biol. 2013 Oct;14(10):661-72. doi: 10.1038/nrm3659. Epub 2013 Sep 4.
12. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
13. Role of Rac1 GTPase in NADPH oxidase activation and cognitive impairment following cerebral ischemia in the rat. Raz L, etal., PLoS One. 2010 Sep 7;5(9):e12606. doi: 10.1371/journal.pone.0012606.
14. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
15. Disparate impact of butyroyloxymethyl diethylphosphate (AN-7), a histone deacetylase inhibitor, and doxorubicin in mice bearing a mammary tumor. Tarasenko N, etal., PLoS One. 2012;7(2):e31393. doi: 10.1371/journal.pone.0031393. Epub 2012 Feb 23.
16. Expression of DNA doublestrand repair proteins in oral leukoplakia and the risk of malignant transformation. Zhu M, etal., Oncol Lett. 2018 Jun;15(6):9827-9835. doi: 10.3892/ol.2018.8574. Epub 2018 Apr 25.
Additional References at PubMed
PMID:2587254   PMID:7769017   PMID:7929075   PMID:8076949   PMID:9488723   PMID:9566873   PMID:10477747   PMID:10734083   PMID:10959836   PMID:11080476   PMID:11110662   PMID:11331621  
PMID:11571274   PMID:11673449   PMID:11689053   PMID:11893489   PMID:11927591   PMID:12033261   PMID:12220643   PMID:12372432   PMID:12419185   PMID:12447390   PMID:12475977   PMID:12477932  
PMID:12485996   PMID:12551934   PMID:12556884   PMID:12607005   PMID:12660252   PMID:12689589   PMID:12697768   PMID:12792649   PMID:12915485   PMID:12926989   PMID:14519663   PMID:14627815  
PMID:14657027   PMID:15059890   PMID:15064416   PMID:15149599   PMID:15201865   PMID:15279782   PMID:15364958   PMID:15389585   PMID:15485898   PMID:15489221   PMID:15489334   PMID:15574327  
PMID:15604234   PMID:15613478   PMID:15655354   PMID:15707990   PMID:15723802   PMID:15733840   PMID:15816840   PMID:15870294   PMID:15905198   PMID:16046194   PMID:16153602   PMID:16169070  
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PMID:18206537   PMID:18285460   PMID:18328813   PMID:18344987   PMID:18397884   PMID:18406329   PMID:18457664   PMID:18536151   PMID:18583988   PMID:18614045   PMID:18616816   PMID:18622584  
PMID:18638378   PMID:18656236   PMID:18727058   PMID:18758438   PMID:18829552   PMID:18955500   PMID:19005492   PMID:19020308   PMID:19064695   PMID:19092802   PMID:19107196   PMID:19146767  
PMID:19180575   PMID:19202324   PMID:19234442   PMID:19265496   PMID:19273588   PMID:19305155   PMID:19338747   PMID:19351884   PMID:19377482   PMID:19377486   PMID:19397442   PMID:19401347  
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PMID:19805520   PMID:19845771   PMID:19859659   PMID:19861731   PMID:19895790   PMID:19903578   PMID:19910469   PMID:19952118   PMID:19996277   PMID:20000738   PMID:20023412   PMID:20023697  
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PMID:30072594   PMID:30096372   PMID:30110629   PMID:30126387   PMID:30165463   PMID:30185813   PMID:30196744   PMID:30275188   PMID:30344095   PMID:30349055   PMID:30425250   PMID:30462294  
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PMID:31045206   PMID:31101118   PMID:31127894   PMID:31176019   PMID:31180492   PMID:31217297   PMID:31332168   PMID:31445935   PMID:31501894   PMID:31504778   PMID:31533041   PMID:31552812  
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PMID:32246795   PMID:32424115   PMID:32466590   PMID:32518374   PMID:32552912   PMID:32759388   PMID:32778572   PMID:32780723   PMID:32811647   PMID:32879387   PMID:32928367   PMID:32963243  
PMID:33001583   PMID:33022573   PMID:33080218   PMID:33188943   PMID:33264433   PMID:33306668   PMID:33400798   PMID:33441544   PMID:33590416   PMID:33691101   PMID:33903120   PMID:33903655  
PMID:33924684   PMID:33961781   PMID:34067339   PMID:34079125   PMID:34133714   PMID:34321665   PMID:34348893   PMID:34375710   PMID:34393157   PMID:34537242   PMID:34688844   PMID:34921745  
PMID:35013556   PMID:35048565   PMID:35061896   PMID:35235704   PMID:35271311   PMID:35598681   PMID:35652658   PMID:35831314   PMID:35849344   PMID:35944360   PMID:36057605   PMID:36147463  
PMID:36180920   PMID:36215168   PMID:36232890   PMID:36300783   PMID:36565298   PMID:36597993   PMID:36607699   PMID:36634849   PMID:36906594   PMID:37248865   PMID:37827155   PMID:37866880  


Genomics

Comparative Map Data
H2AX
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811119,093,874 - 119,095,465 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11119,093,874 - 119,095,465 (-)EnsemblGRCh38hg38GRCh38
GRCh3711118,964,584 - 118,966,175 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3611118,469,794 - 118,471,387 (-)NCBINCBI36Build 36hg18NCBI36
Build 3411118,469,796 - 118,471,387NCBI
Celera11116,121,998 - 116,123,592 (-)NCBICelera
Cytogenetic Map11q23.3NCBI
HuRef11114,904,032 - 114,905,625 (-)NCBIHuRef
CHM1_111118,850,886 - 118,852,479 (-)NCBICHM1_1
T2T-CHM13v2.011119,114,257 - 119,115,848 (-)NCBIT2T-CHM13v2.0
H2ax
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39944,246,012 - 44,247,374 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl944,245,991 - 44,247,374 (+)EnsemblGRCm39 Ensembl
GRCm38944,334,715 - 44,336,077 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl944,334,694 - 44,336,077 (+)EnsemblGRCm38mm10GRCm38
MGSCv37944,142,798 - 44,144,160 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36944,085,710 - 44,087,072 (+)NCBIMGSCv36mm8
Celera941,589,440 - 41,590,802 (+)NCBICelera
Cytogenetic Map9A5.2NCBI
cM Map924.84NCBI
H2ax
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8853,568,718 - 53,570,072 (+)NCBIGRCr8
mRatBN7.2844,671,907 - 44,673,262 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl844,671,786 - 44,673,239 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx850,167,819 - 50,169,136 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0848,446,535 - 48,447,852 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0846,316,913 - 46,318,230 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0848,665,652 - 48,666,981 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl848,665,652 - 48,666,981 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0847,284,623 - 47,285,952 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4847,312,609 - 47,313,938 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera844,258,161 - 44,259,490 (+)NCBICelera
Cytogenetic Map8q22NCBI
LOC102025775
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541220,203,772 - 20,204,203 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541220,203,173 - 20,204,714 (-)NCBIChiLan1.0ChiLan1.0
LOC100994157
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v29119,798,667 - 119,800,274 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan111120,902,366 - 120,903,972 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v011113,932,078 - 113,933,679 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.111117,862,383 - 117,862,841 (-)NCBIpanpan1.1PanPan1.1panPan2
H2AX
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1514,765,625 - 14,766,590 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl514,766,126 - 14,766,557 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha514,819,023 - 14,819,714 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0514,709,362 - 14,710,053 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl514,709,465 - 14,709,896 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1514,847,404 - 14,848,095 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0514,751,426 - 14,752,116 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0514,791,799 - 14,792,490 (+)NCBIUU_Cfam_GSD_1.0
LOC101966907
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947101,125,524 - 101,127,552 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365424,047,915 - 4,048,346 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365424,046,930 - 4,049,017 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
H2AX
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl946,309,653 - 46,310,084 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1946,308,824 - 46,310,494 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2951,343,962 - 51,345,644 (-)NCBISscrofa10.2Sscrofa10.2susScr3
H2AFX
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11110,466,692 - 110,468,776 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1110,467,775 - 110,468,206 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604315,565,922 - 15,567,520 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
LOC101701891
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462478414,476,730 - 14,477,161 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462478414,475,813 - 14,477,269 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in H2AX
1 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 copy number gain See cases [RCV000050331] Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3 copy number gain See cases [RCV000050627] Chr11:113444446..120648921 [GRCh38]
Chr11:113315168..120519630 [GRCh37]
Chr11:112820378..120024840 [NCBI36]
Chr11:11q23.2-23.3
pathogenic
GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3 copy number gain See cases [RCV000051213] Chr11:118789765..134998513 [GRCh38]
Chr11:118660474..134868407 [GRCh37]
Chr11:118165684..134373617 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3 copy number gain See cases [RCV000053638] Chr11:100348599..135040246 [GRCh38]
Chr11:100219331..134910140 [GRCh37]
Chr11:99724541..134415350 [NCBI36]
Chr11:11q22.1-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3 copy number gain See cases [RCV000134064] Chr11:116851372..134998526 [GRCh38]
Chr11:116722088..134868420 [GRCh37]
Chr11:116227298..134373630 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3 copy number gain See cases [RCV000137582] Chr11:112864326..131189315 [GRCh38]
Chr11:112832130..131059210 [GRCh37]
Chr11:112240259..130564420 [NCBI36]
Chr11:11q23.2-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3 copy number gain See cases [RCV000137453] Chr11:116868935..135075271 [GRCh38]
Chr11:116739651..134945165 [GRCh37]
Chr11:116244861..134450377 [NCBI36]
Chr11:11q23.3-25
pathogenic|conflicting data from submitters
GRCh38/hg38 11q23.3(chr11:118933083-119215291)x3 copy number gain See cases [RCV000137489] Chr11:118933083..119215291 [GRCh38]
Chr11:118803792..119086001 [GRCh37]
Chr11:118309002..118591211 [NCBI36]
Chr11:11q23.3
likely benign
GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3 copy number gain See cases [RCV000138307] Chr11:116806268..135075271 [GRCh38]
Chr11:116676984..134945165 [GRCh37]
Chr11:116182194..134450377 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3 copy number gain See cases [RCV000139362] Chr11:117333952..127709156 [GRCh38]
Chr11:117204668..127579051 [GRCh37]
Chr11:116709878..127084261 [NCBI36]
Chr11:11q23.3-24.2
pathogenic
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 copy number gain See cases [RCV000148276] Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3(chr11:115215434-120559928)x3 copy number gain See cases [RCV000240308] Chr11:115215434..120559928 [GRCh37]
Chr11:11q23.3
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116700253-134904063) copy number gain not provided [RCV000767816] Chr11:116700253..134904063 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000449449] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116684163-134938470)x3 copy number gain See cases [RCV000447848] Chr11:116684163..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000512291] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain not provided [RCV000683373] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3(chr11:116669751-120979377)x3 copy number gain not provided [RCV000683365] Chr11:116669751..120979377 [GRCh37]
Chr11:11q23.3
likely pathogenic
Single allele deletion Short stature [RCV001003892] Chr11:114433313..131230466 [GRCh37]
Chr11:11q23.2-25
likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
Single allele duplication Schizophrenia [RCV000754124] Chr11:118989374..135076622 [GRCh38]
Chr11:11q23.3-25
likely pathogenic
GRCh37/hg19 11q23.3-25(chr11:116697066-134934063)x3 copy number gain not provided [RCV000737686] Chr11:116697066..134934063 [GRCh37]
Chr11:11q23.3-25
pathogenic
NC_000011.9:g.(?_117856768)_(118972385_?)del deletion Combined immunodeficiency due to CD3gamma deficiency [RCV001382626]|Immunodeficiency 18 [RCV001389243]|Immunodeficiency 19 [RCV001031688]|Inflammatory bowel disease 28 [RCV001386823] Chr11:117856768..118972385 [GRCh37]
Chr11:11q23.3
pathogenic
NC_000011.9:g.(?_117856768)_(118972385_?)dup duplication Glucose-6-phosphate transport defect [RCV001031254]|Immunodeficiency 18 [RCV001338286] Chr11:117856768..118972385 [GRCh37]
Chr11:11q23.3
uncertain significance
GRCh37/hg19 11q23.3-25(chr11:116691675-134889485) copy number gain not provided [RCV000767667] Chr11:116691675..134889485 [GRCh37]
Chr11:11q23.3-25
pathogenic
NC_000011.9:g.(?_118007722)_(119170511_?)del deletion Long QT syndrome 10 [RCV000816632] Chr11:118007722..119170511 [GRCh37]
Chr11:11q23.3
uncertain significance
GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3 copy number gain not provided [RCV000848151] Chr11:117830263..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
NC_000011.10:g.119095811C>T single nucleotide variant not provided [RCV001720918] Chr11:119095811 [GRCh38]
Chr11:118966521 [GRCh37]
Chr11:11q23.3
benign
GRCh37/hg19 11q23.3(chr11:118280670-119650105)x3 copy number gain not provided [RCV001006451] Chr11:118280670..119650105 [GRCh37]
Chr11:11q23.3
uncertain significance
NC_000011.9:g.(?_118895600)_(118972385_?)dup duplication Glucose-6-phosphate transport defect [RCV001031316] Chr11:118895600..118972385 [GRCh37]
Chr11:11q23.3
uncertain significance
NC_000011.9:g.(?_117856768)_(118972385_?)dup duplication Combined immunodeficiency due to CD3gamma deficiency [RCV001313154]|Glucose-6-phosphate transport defect [RCV001031254]|Immunodeficiency 18 [RCV001338286]|Immunodeficiency 19 [RCV001322413]|Inflammatory bowel disease 28 [RCV001304384] Chr11:117856768..118972385 [GRCh37]
Chr11:11q23.3
uncertain significance
NC_000011.9:g.(?_118007722)_(119170511_?)del deletion Long QT syndrome 10 [RCV001309948] Chr11:118007722..119170511 [GRCh37]
Chr11:11q23.3
uncertain significance
NC_000011.9:g.104288964_134937416dup duplication Distal trisomy 11q [RCV001250234] Chr11:104288964..134937416 [GRCh37]
Chr11:11q22.3-25
pathogenic
NC_000011.9:g.(?_116691583)_(121500272_?)dup duplication Combined immunodeficiency due to CD3gamma deficiency [RCV003119252]|Immunodeficiency 18 [RCV003109226]|Immunodeficiency 19 [RCV003109224]|Inflammatory bowel disease 28 [RCV003109225]|Isolated microphthalmia 5 [RCV003119251]|RASopathy [RCV003119250] Chr11:116691583..121500272 [GRCh37]
Chr11:11q23.3-24.1
uncertain significance
GRCh37/hg19 11q23.3(chr11:118849155-119067781)x3 copy number gain not provided [RCV001836501] Chr11:118849155..119067781 [GRCh37]
Chr11:11q23.3
uncertain significance
GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3 copy number gain not provided [RCV001829187] Chr11:112375478..128785742 [GRCh37]
Chr11:11q23.1-24.3
pathogenic
NC_000011.9:g.(?_116660844)_(121500272_?)dup duplication not provided [RCV003107886] Chr11:116660844..121500272 [GRCh37]
Chr11:11q23.3-24.1
uncertain significance
NC_000011.9:g.(?_118007742)_(119170491_?)dup duplication DPAGT1-congenital disorder of glycosylation [RCV001975773] Chr11:118007742..119170491 [GRCh37]
Chr11:11q23.3
uncertain significance
NC_000011.9:g.(?_117209303)_(120133495_?)dup duplication not provided [RCV003122151] Chr11:117209303..120133495 [GRCh37]
Chr11:11q23.3
uncertain significance
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25
pathogenic
Single allele duplication not provided [RCV003448710] Chr11:102134973..134945611 [GRCh37]
Chr11:11q22.2-25
pathogenic
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR328hsa-miR-328-3pMirtarbaseexternal_infoReporter assay;Western blot;qRT-PCRFunctional MTI19377482
MIR24-2hsa-miR-24-3pMirtarbaseexternal_infoReporter assay;Western blot;qRT-PCRFunctional MTI19377482
MIR138-2hsa-miR-138-5pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI21693595
MIR138-1hsa-miR-138-5pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI21693595
MIR138-2hsa-miR-138-5pOncomiRDBexternal_infoNANA21693595
MIR138-1hsa-miR-138-5pOncomiRDBexternal_infoNANA21693595
MIR24-1hsa-miR-24-3pMirtarbaseexternal_infoReporter assay;Western blot;qRT-PCRFunctional MTI19377482

Predicted Target Of
Summary Value
Count of predictions:1192
Count of miRNA genes:437
Interacting mature miRNAs:484
Transcripts:ENST00000375167, ENST00000530167
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
STS-M95623  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,964,406 - 118,964,654UniSTSGRCh37
Build 3611118,469,616 - 118,469,864RGDNCBI36
Celera11116,121,820 - 116,122,068RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,903,854 - 114,904,102UniSTS
GeneMap99-GB4 RH Map11385.48UniSTS
D11S4378  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,964,823 - 118,964,944UniSTSGRCh37
Build 3611118,470,033 - 118,470,154RGDNCBI36
Celera11116,122,237 - 116,122,358RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,904,271 - 114,904,392UniSTS
GeneMap99-GB4 RH Map11385.17UniSTS
Whitehead-RH Map11538.9UniSTS
RH70756  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,965,160 - 118,965,250UniSTSGRCh37
Build 3611118,470,370 - 118,470,460RGDNCBI36
Celera11116,122,574 - 116,122,664RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,904,608 - 114,904,698UniSTS
RH80367  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,965,975 - 118,966,092UniSTSGRCh37
Build 3611118,471,185 - 118,471,302RGDNCBI36
Celera11116,123,390 - 116,123,507RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,905,423 - 114,905,540UniSTS
GeneMap99-GB4 RH Map11385.69UniSTS
G15876  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,965,403 - 118,965,631UniSTSGRCh37
Build 3611118,470,613 - 118,470,841RGDNCBI36
Celera11116,122,817 - 116,123,047RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,904,851 - 114,905,079UniSTS
H2AFX_1240  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,964,443 - 118,965,250UniSTSGRCh37
Build 3611118,469,653 - 118,470,460RGDNCBI36
Celera11116,121,857 - 116,122,664RGD
HuRef11114,903,891 - 114,904,698UniSTS
DPAGT1_8310  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,967,063 - 118,967,720UniSTSGRCh37
Build 3611118,472,273 - 118,472,930RGDNCBI36
Celera11116,124,478 - 116,125,135RGD
HuRef11114,906,512 - 114,907,169UniSTS
STS-R55620  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,967,314 - 118,967,516UniSTSGRCh37
Build 3611118,472,524 - 118,472,726RGDNCBI36
Celera11116,124,729 - 116,124,931RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,906,763 - 114,906,965UniSTS
GeneMap99-GB4 RH Map11386.42UniSTS
A004Z11  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,964,835 - 118,964,988UniSTSGRCh37
Build 3611118,470,045 - 118,470,198RGDNCBI36
Celera11116,122,249 - 116,122,402RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,904,283 - 114,904,436UniSTS
GeneMap99-GB4 RH Map11383.6UniSTS
Whitehead-RH Map11535.4UniSTS
H2AFX  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,965,733 - 118,965,885UniSTSGRCh37
Build 3611118,470,943 - 118,471,095RGDNCBI36
Celera11116,123,148 - 116,123,300RGD
HuRef11114,905,181 - 114,905,333UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1 4
Medium 2371 2070 1497 380 1664 244 3700 1384 3708 338 1453 1602 153 1 1054 2265 6 2
Low 68 921 229 244 285 221 657 813 25 81 3 11 22 150 523
Below cutoff 1

Sequence


RefSeq Acc Id: ENST00000375167   ⟹   ENSP00000364310
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11119,093,879 - 119,095,449 (-)Ensembl
RefSeq Acc Id: ENST00000530167   ⟹   ENSP00000434024
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11119,093,874 - 119,095,465 (-)Ensembl
RefSeq Acc Id: NM_002105   ⟹   NP_002096
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811119,093,874 - 119,095,465 (-)NCBI
GRCh3711118,964,580 - 118,966,177 (-)NCBI
Build 3611118,469,794 - 118,471,387 (-)NCBI Archive
HuRef11114,904,032 - 114,905,625 (-)ENTREZGENE
CHM1_111118,850,886 - 118,852,479 (-)NCBI
T2T-CHM13v2.011119,114,257 - 119,115,848 (-)NCBI
Sequence:
RefSeq Acc Id: NP_002096   ⟸   NM_002105
- UniProtKB: Q4ZGJ7 (UniProtKB/Swiss-Prot),   Q6IAS5 (UniProtKB/Swiss-Prot),   P16104 (UniProtKB/Swiss-Prot),   B2R5B3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000434024   ⟸   ENST00000530167
RefSeq Acc Id: ENSP00000364310   ⟸   ENST00000375167

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P16104-F1-model_v2 AlphaFold P16104 1-143 view protein structure

Promoters
RGD ID:6788977
Promoter ID:HG_KWN:14363
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000375167
Position:
Human AssemblyChrPosition (strand)Source
Build 3611118,470,381 - 118,471,367 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4739 AgrOrtholog
COSMIC H2AX COSMIC
Ensembl Genes ENSG00000188486 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000375167.1 UniProtKB/Swiss-Prot
  ENST00000530167 ENTREZGENE
  ENST00000530167.2 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.20.10 UniProtKB/Swiss-Prot
GTEx ENSG00000188486 GTEx
HGNC ID HGNC:4739 ENTREZGENE
Human Proteome Map H2AX Human Proteome Map
InterPro Histone-fold UniProtKB/Swiss-Prot
  Histone_H2A UniProtKB/Swiss-Prot
  Histone_H2A/H2B/H3 UniProtKB/Swiss-Prot
  Histone_H2A_C UniProtKB/Swiss-Prot
  Histone_H2A_CS UniProtKB/Swiss-Prot
KEGG Report hsa:3014 UniProtKB/Swiss-Prot
NCBI Gene 3014 ENTREZGENE
OMIM 601772 OMIM
PANTHER HISTONE H2AX UniProtKB/Swiss-Prot
  PTHR23430 UniProtKB/Swiss-Prot
Pfam Histone UniProtKB/Swiss-Prot
  Histone_H2A_C UniProtKB/Swiss-Prot
PharmGKB PA29116 PharmGKB
PRINTS HISTONEH2A UniProtKB/Swiss-Prot
PROSITE HISTONE_H2A UniProtKB/Swiss-Prot
SMART H2A UniProtKB/Swiss-Prot
Superfamily-SCOP SSF47113 UniProtKB/Swiss-Prot
UniProt B2R5B3 ENTREZGENE
  H2AX_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q4ZGJ7 ENTREZGENE
  Q6IAS5 ENTREZGENE
UniProt Secondary Q4ZGJ7 UniProtKB/Swiss-Prot
  Q6IAS5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-07-30 H2AX  H2A.X variant histone  H2AFX  H2A histone family member X  Symbol and/or name change 5135510 APPROVED
2015-11-24 H2AFX  H2A histone family member X  H2AFX  H2A histone family, member X  Symbol and/or name change 5135510 APPROVED