EPHX2 (epoxide hydrolase 2) - Rat Genome Database
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Gene: EPHX2 (epoxide hydrolase 2) Homo sapiens
Analyze
Symbol: EPHX2
Name: epoxide hydrolase 2
RGD ID: 731054
HGNC Page HGNC
Description: Exhibits several functions, including magnesium ion binding activity; phosphatase activity; and protein homodimerization activity. Involved in several processes, including cholesterol homeostasis; phospholipid dephosphorylation; and stilbene catabolic process. Localizes to cytosol and peroxisome. Implicated in coronary artery disease; familial hypercholesterolemia; and hypertension.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ABHD20; bifunctional epoxide hydrolase 2; CEH; cytosolic epoxide hydrolase; epoxide hydratase; epoxide hydrolase 2, cytoplasmic; epoxide hydrolase 2, cytosolic; epoxide hydrolase, soluble; SEH; soluble epoxide hydrolase
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
GRCh38.p13 Ensembl827,490,781 - 27,545,564 (+)EnsemblGRCh38hg38GRCh38
GRCh38827,491,143 - 27,597,559 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37827,348,660 - 27,403,081 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36827,404,562 - 27,458,403 (+)NCBINCBI36hg18NCBI36
Build 34827,404,561 - 27,458,403NCBI
Celera826,308,750 - 26,362,585 (+)NCBI
Cytogenetic Map8p21.2-p21.1NCBI
HuRef825,893,566 - 25,947,482 (+)NCBIHuRef
CHM1_1827,550,382 - 27,604,304 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(2,4,5-trichlorophenoxy)acetic acid  (ISO)
(5Z,8Z,11Z,13E)-15-HETE  (EXP)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
14,15-EET  (ISO)
16-alpha,17-Epoxypregn-4-ene-3,20-dione  (ISO)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrabromodibenzodioxine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-D  (ISO)
2,6-dichloroindophenol  (EXP)
2-(4-chloro-2-methylphenoxy)propanoic acid  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',4,4'-tetrachlorobiphenyl  (ISO)
3-[3-(tert-butylsulfanyl)-1-(4-chlorobenzyl)-5-(propan-2-yl)-1H-indol-2-yl]-2,2-dimethylpropanoic acid  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
3-methylcholanthrene  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5,6-EET  (ISO)
5,6alpha-epoxy-5alpha-cholestan-3beta-ol  (ISO)
8,9-EET  (ISO)
acetylsalicylic acid  (ISO)
aflatoxin B1  (EXP)
ammonium chloride  (ISO)
amphibole asbestos  (EXP)
arachidonic acid  (ISO)
arsenite ion  (ISO)
arsenite(3-)  (ISO)
arsenous acid  (EXP)
aspartame  (ISO)
benzil  (ISO)
benzo[a]pyrene  (EXP,ISO)
bexarotene  (ISO)
bezafibrate  (EXP)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
butylated hydroxyanisole  (ISO)
cadmium dichloride  (ISO)
calcium atom  (ISO)
calcium(0)  (ISO)
captan  (ISO)
carbamazepine  (ISO)
carbonyl cyanide p-trifluoromethoxyphenylhydrazone  (EXP)
cerium trichloride  (EXP)
CGS-21680  (ISO)
chlorobenzene  (EXP)
chlorohydrocarbon  (ISO)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP,ISO)
clofibrate  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP,ISO)
cyfluthrin  (EXP)
cylindrospermopsin  (ISO)
cyproconazole  (ISO)
decabromodiphenyl ether  (ISO)
dexamethasone  (ISO)
diarsenic trioxide  (EXP)
dieldrin  (ISO)
dihydroxyacetone  (EXP)
dinophysistoxin 1  (EXP)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
ebselen  (EXP)
edaravone  (ISO)
elemental selenium  (EXP)
endosulfan  (ISO)
epoxiconazole  (ISO)
ethanol  (ISO)
felbamate  (ISO)
fenofibrate  (EXP,ISO)
fenvalerate  (ISO)
flavonoids  (ISO)
flutamide  (ISO)
folic acid  (ISO)
folpet  (ISO)
furan  (ISO)
gemfibrozil  (EXP)
genistein  (EXP)
gentamycin  (ISO)
glycyrrhizinic acid  (ISO)
glyphosate  (ISO)
GW 7647  (ISO)
Heliotrine  (EXP)
Heptachlor epoxide  (ISO)
hexachlorobenzene  (ISO)
hydrogen peroxide  (EXP,ISO)
icosanoid  (ISO)
indirubin-3'-monoxime  (EXP)
kojic acid  (ISO)
L-ascorbic acid  (EXP)
L-ethionine  (ISO)
lanosterol  (ISO)
lead diacetate  (ISO)
leflunomide  (EXP)
limonin  (ISO)
linsidomine  (ISO)
lipopolysaccharide  (EXP,ISO)
mecoprop  (ISO)
mercury dichloride  (ISO)
methapyrilene  (ISO)
methylmercury chloride  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
monosodium L-glutamate  (ISO)
morphine  (ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
N-ethyl-5'-carboxamidoadenosine  (ISO)
N-nitrosodiethylamine  (ISO)
N-Nitrosopyrrolidine  (EXP)
naphthalene  (EXP)
nickel atom  (EXP)
nomilin  (ISO)
O-methyleugenol  (EXP)
oxycodone  (ISO)
ozone  (EXP,ISO)
p-chloromercuribenzoic acid  (EXP)
paclitaxel  (ISO)
paracetamol  (EXP,ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (EXP,ISO)
phenylephrine  (ISO)
phenylmercury acetate  (EXP)
phenytoin  (ISO)
pirinixic acid  (EXP,ISO)
pravastatin  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
propiconazole  (ISO)
prostaglandin D2  (ISO)
prostaglandin E2  (ISO)
quercetin  (EXP,ISO)
resveratrol  (EXP)
rotenone  (ISO)
SB 431542  (EXP)
selenium atom  (EXP)
senecionine  (EXP)
Senkirkine  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
sodium dichromate  (ISO)
sodium fluoride  (ISO)
stilbene oxide  (ISO)
streptozocin  (ISO)
sulforaphane  (ISO)
tert-butyl hydroperoxide  (ISO)
Tesaglitazar  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
Tridiphane  (ISO)
trimellitic anhydride  (ISO)
troglitazone  (EXP,ISO)
urea  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
zaragozic acid A  (ISO)
zinc pyrithione  (EXP)
zoledronic acid  (EXP)

References

References - curated
1. Corenblum MJ, etal., Hypertension. 2008 Feb;51(2):567-73. Epub 2007 Dec 17.
2. Dorrance AM, etal., J Cardiovasc Pharmacol. 2005 Dec;46(6):842-8.
3. Dreisbach AW, etal., Am J Hypertens. 2005 Oct;18(10):1276-81.
4. Elmarakby AA, etal., Am J Physiol Regul Integr Comp Physiol. 2011 Nov;301(5):R1307-17. Epub 2011 Aug 10.
5. Farin FM, etal., Pharmacogenetics. 2001 Nov;11(8):703-8.
6. Fava C, etal., Pharmacogenet Genomics. 2010 Feb;20(2):94-103.
7. Fornage M, etal., Circulation. 2004 Jan 27;109(3):335-9. Epub 2004 Jan 19.
8. Fornage M, etal., Hum Mol Genet. 2005 Oct 1;14(19):2829-37. Epub 2005 Aug 22.
9. GOA_HUMAN data from the GO Consortium
10. Gschwendtner A, etal., Stroke. 2008 May;39(5):1593-6. Epub 2008 Mar 6.
11. Honetschlagerova Z, etal., J Hypertens. 2011 Aug;29(8):1590-601.
12. Hutchens MP, etal., Resuscitation. 2008 Jan;76(1):89-94. Epub 2007 Aug 28.
13. Imig JD, etal., Hypertension. 2005 Oct;46(4):975-81. Epub 2005 Sep 12.
14. Inceoglu B, etal., Life Sci. 2006 Nov 10;79(24):2311-9. Epub 2006 Aug 2.
15. Iyer A, etal., Exp Diabetes Res. 2012;2012:758614. Epub 2011 Oct 10.
16. Jia Y, etal., Microvasc Res. 2011 Jan;81(1):73-80. Epub 2010 Nov 12.
17. Jung O, etal., PLoS One. 2010 Aug 4;5(8):e11979.
18. KEGG
19. Lee CR, etal., Hum Mol Genet. 2006 May 15;15(10):1640-9. Epub 2006 Apr 4.
20. Li N, etal., J Mol Cell Cardiol. 2009 Dec;47(6):835-45. Epub 2009 Aug 28.
21. Liu JY, etal., Br J Pharmacol. 2009 Jan;156(2):284-96. Epub 2009 Jan 13.
22. Manhiani M, etal., Am J Physiol Renal Physiol. 2009 Sep;297(3):F740-8. Epub 2009 Jun 24.
23. OMIM Disease Annotation Pipeline
24. Pipeline to import KEGG annotations from KEGG into RGD
25. Pipeline to import SMPDB annotations from SMPDB into RGD
26. Qamar W, etal., Toxicology. 2012 Jan 27;291(1-3):25-31. Epub 2011 Oct 25.
27. Revermann M, etal., Arterioscler Thromb Vasc Biol. 2010 May;30(5):909-14. Epub 2010 Mar 11.
28. Revermann M, etal., J Hypertens. 2009 Feb;27(2):322-31.
29. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
30. RGD automated import pipeline for gene-chemical interactions
31. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
32. Wei Q, etal., Atherosclerosis. 2007 Jan;190(1):26-34. Epub 2006 Mar 20.
33. Zhang W, etal., J Cereb Blood Flow Metab. 2009 Aug;29(8):1475-81. Epub 2009 May 27.
Additional References at PubMed
PMID:1349227   PMID:1423213   PMID:1809223   PMID:2329521   PMID:2995393   PMID:3222228   PMID:6185139   PMID:6667124   PMID:7840649   PMID:7868134   PMID:8224376   PMID:8342951  
PMID:8619856   PMID:10862610   PMID:12107410   PMID:12477932   PMID:12574508   PMID:12574510   PMID:14634838   PMID:14673705   PMID:14702039   PMID:15096040   PMID:15196990   PMID:15489334  
PMID:15845398   PMID:16169070   PMID:16314446   PMID:16322563   PMID:16414022   PMID:16957870   PMID:17460077   PMID:17495027   PMID:17498780   PMID:17919073   PMID:18029348   PMID:18078836  
PMID:18216721   PMID:18319271   PMID:18510611   PMID:18513744   PMID:18537101   PMID:18589104   PMID:18632753   PMID:18636124   PMID:18676680   PMID:18775727   PMID:18784359   PMID:18818748  
PMID:18974052   PMID:19019335   PMID:19056867   PMID:19074885   PMID:19170196   PMID:19343046   PMID:19420105   PMID:19527514   PMID:19575027   PMID:19578796   PMID:19625176   PMID:19692168  
PMID:19704161   PMID:19814804   PMID:19913121   PMID:19940276   PMID:20140262   PMID:20178365   PMID:20237496   PMID:20379614   PMID:20485444   PMID:20628086   PMID:20819778   PMID:20888937  
PMID:21044950   PMID:21098312   PMID:21217101   PMID:21281786   PMID:21429967   PMID:21642892   PMID:21704394   PMID:21873635   PMID:21988832   PMID:22199357   PMID:22217705   PMID:22336502  
PMID:22354938   PMID:22387545   PMID:22739108   PMID:22798687   PMID:22986331   PMID:23011468   PMID:23152298   PMID:23160182   PMID:23259602   PMID:23362272   PMID:23376485   PMID:23533145  
PMID:23576437   PMID:23711456   PMID:23999524   PMID:24404629   PMID:24771868   PMID:25056061   PMID:25173047   PMID:25216066   PMID:25388680   PMID:25659109   PMID:25824304   PMID:25839935  
PMID:25947240   PMID:25966114   PMID:26230946   PMID:26341485   PMID:26344197   PMID:26453326   PMID:26976569   PMID:27009944   PMID:27087514   PMID:27266621   PMID:27381900   PMID:28409162  
PMID:28552948   PMID:28835580   PMID:28973302   PMID:29058492   PMID:29193961   PMID:29196978   PMID:29295935   PMID:29568061   PMID:29580941   PMID:29629376   PMID:29665449   PMID:30096423  
PMID:31041817   PMID:31306370   PMID:31536960  


Genomics

Comparative Map Data
EPHX2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl827,490,781 - 27,545,564 (+)EnsemblGRCh38hg38GRCh38
GRCh38827,491,143 - 27,597,559 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37827,348,660 - 27,403,081 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36827,404,562 - 27,458,403 (+)NCBINCBI36hg18NCBI36
Build 34827,404,561 - 27,458,403NCBI
Celera826,308,750 - 26,362,585 (+)NCBI
Cytogenetic Map8p21.2-p21.1NCBI
HuRef825,893,566 - 25,947,482 (+)NCBIHuRef
CHM1_1827,550,382 - 27,604,304 (+)NCBICHM1_1
Ephx2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391466,321,821 - 66,361,971 (-)NCBIGRCm39mm39
GRCm39 Ensembl1466,321,823 - 66,361,949 (-)Ensembl
GRCm381466,084,372 - 66,124,522 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1466,084,374 - 66,124,500 (-)EnsemblGRCm38mm10GRCm38
MGSCv371466,703,214 - 66,743,337 (-)NCBIGRCm37mm9NCBIm37
MGSCv361465,038,487 - 65,078,610 (-)NCBImm8
Celera1463,832,362 - 63,872,496 (-)NCBICelera
Cytogenetic Map14D1NCBI
cM Map1434.36NCBI
Ephx2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21540,289,901 - 40,327,632 (-)NCBI
Rnor_6.0 Ensembl1542,757,235 - 42,794,279 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01542,757,241 - 42,794,211 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01548,799,823 - 48,836,848 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41545,497,660 - 45,556,101 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11545,513,439 - 45,571,881 (-)NCBI
Celera1539,961,087 - 40,000,936 (-)NCBICelera
Cytogenetic Map15p12NCBI
Ephx2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540349,999,563 - 50,041,572 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540349,999,563 - 50,038,800 (+)NCBIChiLan1.0ChiLan1.0
EPHX2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1823,964,094 - 24,017,749 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl823,964,094 - 24,017,749 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0826,761,090 - 26,818,436 (+)NCBIMhudiblu_PPA_v0panPan3
EPHX2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12530,045,040 - 30,107,110 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2530,045,291 - 30,107,110 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2530,631,771 - 30,693,869 (-)NCBI
ROS_Cfam_1.02530,235,290 - 30,297,630 (-)NCBI
UMICH_Zoey_3.12530,165,721 - 30,227,963 (-)NCBI
UNSW_CanFamBas_1.02530,046,546 - 30,108,832 (-)NCBI
UU_Cfam_GSD_1.02530,212,901 - 30,275,213 (-)NCBI
Ephx2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_ltri_2NW_0244049438,193,232 - 8,235,694 (-)NCBI
SpeTri2.0NW_004936675350,357 - 392,919 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EPHX2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1411,216,977 - 11,293,412 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11411,217,125 - 11,293,018 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21412,397,646 - 12,473,595 (+)NCBISscrofa10.2Sscrofa10.2susScr3
EPHX2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1825,603,668 - 25,659,232 (+)NCBI
ChlSab1.1 Ensembl825,603,735 - 25,659,345 (+)Ensembl
Ephx2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462475822,216,462 - 22,252,467 (+)NCBI

Position Markers
D8S1839  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37827,382,561 - 27,382,741UniSTSGRCh37
Build 36827,438,478 - 27,438,658RGDNCBI36
Celera826,342,660 - 26,342,840RGD
Cytogenetic Map8p21UniSTS
HuRef825,927,601 - 25,927,785UniSTS
Marshfield Genetic Map854.28RGD
Marshfield Genetic Map854.28UniSTS
Genethon Genetic Map852.9UniSTS
TNG Radiation Hybrid Map814036.0UniSTS
deCODE Assembly Map846.42UniSTS
Stanford-G3 RH Map81239.0UniSTS
NCBI RH Map8339.8UniSTS
GeneMap99-G3 RH Map81329.0UniSTS
SHGC-85787  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37827,381,924 - 27,382,237UniSTSGRCh37
Build 36827,437,841 - 27,438,154RGDNCBI36
Celera826,342,023 - 26,342,336RGD
Cytogenetic Map8p21UniSTS
HuRef825,926,964 - 25,927,277UniSTS
TNG Radiation Hybrid Map814036.0UniSTS
D8S1569E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37827,402,252 - 27,402,362UniSTSGRCh37
Build 36827,458,169 - 27,458,279RGDNCBI36
Celera826,362,351 - 26,362,461RGD
Cytogenetic Map8p21UniSTS
HuRef825,947,295 - 25,947,405UniSTS
SHGC-35790  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37827,402,064 - 27,402,263UniSTSGRCh37
Build 36827,457,981 - 27,458,180RGDNCBI36
Celera826,362,163 - 26,362,362RGD
Cytogenetic Map8p21UniSTS
HuRef825,947,107 - 25,947,306UniSTS
Stanford-G3 RH Map81248.0UniSTS
GeneMap99-GB4 RH Map8108.5UniSTS
Whitehead-RH Map8109.8UniSTS
NCBI RH Map8339.8UniSTS
GeneMap99-G3 RH Map81338.0UniSTS
STS-AA011480  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37827,386,081 - 27,386,213UniSTSGRCh37
Build 36827,441,998 - 27,442,130RGDNCBI36
Celera826,346,180 - 26,346,312RGD
Cytogenetic Map8p21UniSTS
HuRef825,931,125 - 25,931,257UniSTS
GeneMap99-GB4 RH Map8108.39UniSTS
NCBI RH Map8337.7UniSTS
STS-L05779  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37827,402,116 - 27,402,240UniSTSGRCh37
Build 36827,458,033 - 27,458,157RGDNCBI36
Celera826,362,215 - 26,362,339RGD
Cytogenetic Map8p21UniSTS
HuRef825,947,159 - 25,947,283UniSTS
GeneMap99-GB4 RH Map8108.6UniSTS
NCBI RH Map8333.4UniSTS
D8S131  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map8p21UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2366
Count of miRNA genes:854
Interacting mature miRNAs:1015
Transcripts:ENST00000380476, ENST00000517536, ENST00000518328, ENST00000518379, ENST00000520623, ENST00000520666, ENST00000521400, ENST00000521684, ENST00000521780, ENST00000521924, ENST00000523326, ENST00000523827
Prediction methods:Microtar, 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.


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
Medium 2129 1310 1670 583 586 437 2917 1005 1690 346 1217 973 151 1 844 1695 1 2
Low 301 1593 52 40 1151 26 1414 1164 2016 62 227 602 24 360 1093 4
Below cutoff 7 87 3 1 157 1 19 17 22 10 11 33

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001745491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF233334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF233335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF233336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF311103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ272362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX103698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA397329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC331720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU584434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L05779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X97024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X97025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X97026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X97027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X97028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X97029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X97030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X97031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X97032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X97033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X97034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X97035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X97036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X97037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X97038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000380476   ⟹   ENSP00000369843
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl827,491,166 - 27,544,913 (+)Ensembl
RefSeq Acc Id: ENST00000517536   ⟹   ENSP00000428875
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl827,491,125 - 27,544,919 (+)Ensembl
RefSeq Acc Id: ENST00000518328   ⟹   ENSP00000430779
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl827,490,781 - 27,505,084 (+)Ensembl
RefSeq Acc Id: ENST00000518379   ⟹   ENSP00000427956
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl827,491,192 - 27,544,892 (+)Ensembl
RefSeq Acc Id: ENST00000520623
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl827,491,125 - 27,539,255 (+)Ensembl
RefSeq Acc Id: ENST00000520666
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl827,491,195 - 27,506,904 (+)Ensembl
RefSeq Acc Id: ENST00000521400   ⟹   ENSP00000430269
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl827,491,143 - 27,545,564 (+)Ensembl
RefSeq Acc Id: ENST00000521684   ⟹   ENSP00000428191
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl827,491,210 - 27,522,509 (+)Ensembl
RefSeq Acc Id: ENST00000521780   ⟹   ENSP00000430302
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl827,491,151 - 27,544,919 (+)Ensembl
RefSeq Acc Id: ENST00000521924
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl827,505,047 - 27,512,100 (+)Ensembl
RefSeq Acc Id: ENST00000523326
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl827,515,463 - 27,522,487 (+)Ensembl
RefSeq Acc Id: ENST00000523827
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl827,492,842 - 27,503,759 (+)Ensembl
RefSeq Acc Id: NM_001256482   ⟹   NP_001243411
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,491,143 - 27,545,564 (+)NCBI
GRCh37827,348,519 - 27,402,439 (+)NCBI
HuRef825,893,566 - 25,947,482 (+)NCBI
CHM1_1827,550,382 - 27,604,304 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001256483   ⟹   NP_001243412
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,491,143 - 27,545,564 (+)NCBI
GRCh37827,348,519 - 27,402,439 (+)NCBI
HuRef825,893,566 - 25,947,482 (+)NCBI
CHM1_1827,550,382 - 27,604,304 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001256484   ⟹   NP_001243413
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,491,143 - 27,545,564 (+)NCBI
GRCh37827,348,519 - 27,402,439 (+)NCBI
HuRef825,893,566 - 25,947,482 (+)NCBI
CHM1_1827,550,548 - 27,604,304 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001979   ⟹   NP_001970
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,491,143 - 27,545,564 (+)NCBI
GRCh37827,348,519 - 27,402,439 (+)NCBI
Build 36827,404,562 - 27,458,403 (+)NCBI Archive
HuRef825,893,566 - 25,947,482 (+)NCBI
CHM1_1827,550,382 - 27,604,304 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013199   ⟹   XP_016868688
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,491,151 - 27,544,920 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013200   ⟹   XP_016868689
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,491,151 - 27,513,913 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001745491
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,491,151 - 27,597,559 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001970   ⟸   NM_001979
- Peptide Label: isoform a
- UniProtKB: P34913 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001243411   ⟸   NM_001256482
- Peptide Label: isoform b
- UniProtKB: P34913 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001243412   ⟸   NM_001256483
- Peptide Label: isoform c
- UniProtKB: P34913 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001243413   ⟸   NM_001256484
- Peptide Label: isoform b
- UniProtKB: P34913 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016868688   ⟸   XM_017013199
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016868689   ⟸   XM_017013200
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000428875   ⟸   ENST00000517536
RefSeq Acc Id: ENSP00000427956   ⟸   ENST00000518379
RefSeq Acc Id: ENSP00000430779   ⟸   ENST00000518328
RefSeq Acc Id: ENSP00000430302   ⟸   ENST00000521780
RefSeq Acc Id: ENSP00000428191   ⟸   ENST00000521684
RefSeq Acc Id: ENSP00000430269   ⟸   ENST00000521400
RefSeq Acc Id: ENSP00000369843   ⟸   ENST00000380476
Protein Domains
AB hydrolase-1

Promoters
RGD ID:6806732
Promoter ID:HG_KWN:60996
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000219954,   UC003XFV.1,   UC010LUT.1,   UC010LUU.1,   UC010LUV.1,   UC010LUW.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36827,404,419 - 27,404,919 (+)MPROMDB
RGD ID:6851758
Promoter ID:EP73684
Type:initiation region
Name:HS_EPHX2
Description:Epoxide hydrolase 2, cytoplasmic.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36827,404,585 - 27,404,645EPD
RGD ID:7212951
Promoter ID:EPDNEW_H12221
Type:multiple initiation site
Name:EPHX2_3
Description:epoxide hydrolase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12222  EPDNEW_H12223  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,488,093 - 27,488,153EPDNEW
RGD ID:7212953
Promoter ID:EPDNEW_H12222
Type:initiation region
Name:EPHX2_2
Description:epoxide hydrolase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12221  EPDNEW_H12223  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,490,766 - 27,490,826EPDNEW
RGD ID:7212955
Promoter ID:EPDNEW_H12223
Type:initiation region
Name:EPHX2_1
Description:epoxide hydrolase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12221  EPDNEW_H12222  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,491,143 - 27,491,203EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001979.6(EPHX2):c.860G>A (p.Arg287Gln) single nucleotide variant Familial hypercholesterolemia 1 [RCV000018074] Chr8:27516348 [GRCh38]
Chr8:27373865 [GRCh37]
Chr8:8p21.1
risk factor
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000050294] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000050297] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.3-21.1
pathogenic
GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3 copy number gain See cases [RCV000050904] Chr8:25832130..48521849 [GRCh38]
Chr8:25689646..49434409 [GRCh37]
Chr8:25745563..49596962 [NCBI36]
Chr8:8p21.2-q11.21
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000050912] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3 copy number gain See cases [RCV000051145] Chr8:12383584..36370018 [GRCh38]
Chr8:12241093..36227536 [GRCh37]
Chr8:12285464..36347088 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3 copy number gain See cases [RCV000051110] Chr8:12728904..41928741 [GRCh38]
Chr8:12586413..41786259 [GRCh37]
Chr8:12630784..41905416 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3 copy number gain See cases [RCV000053630] Chr8:12609975..43336172 [GRCh38]
Chr8:12467484..43191315 [GRCh37]
Chr8:12511855..43310472 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43255410)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|See cases [RCV000053631] Chr8:12609975..43255410 [GRCh38]
Chr8:12467484..43110553 [GRCh37]
Chr8:12511855..43229710 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3 copy number gain See cases [RCV000053632] Chr8:12750796..43532444 [GRCh38]
Chr8:12608305..43387587 [GRCh37]
Chr8:12652676..43506744 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3 copy number gain See cases [RCV000053633] Chr8:12750796..29445409 [GRCh38]
Chr8:12608305..29302926 [GRCh37]
Chr8:12652676..29358845 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3 copy number gain See cases [RCV000053635] Chr8:14940110..47929925 [GRCh38]
Chr8:14797619..48842485 [GRCh37]
Chr8:14841990..49005038 [NCBI36]
Chr8:8p22-q11.21
pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3 copy number gain See cases [RCV000053629] Chr8:12609975..37892000 [GRCh38]
Chr8:12467484..37749518 [GRCh37]
Chr8:12511855..37868676 [NCBI36]
Chr8:8p23.1-11.23
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3 copy number gain See cases [RCV000053599] Chr8:96310..30614703 [GRCh38]
Chr8:46310..30472220 [GRCh37]
Chr8:36310..30591762 [NCBI36]
Chr8:8p23.3-12
pathogenic
GRCh38/hg38 8p21.2-12(chr8:24910364-31210737)x1 copy number loss See cases [RCV000054237] Chr8:24910364..31210737 [GRCh38]
Chr8:24767877..31068253 [GRCh37]
Chr8:24823781..31187795 [NCBI36]
Chr8:8p21.2-12
pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776) copy number gain Abnormality of the fetal cardiovascular system [RCV001291977] Chr8:176814..43396776 [GRCh37]
Chr8:8p23.3-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3 copy number gain See cases [RCV000135786] Chr8:12609975..43673207 [GRCh38]
Chr8:12467484..43528350 [GRCh37]
Chr8:12511855..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3 copy number gain See cases [RCV000135566] Chr8:12383584..43673207 [GRCh38]
Chr8:12241093..43528350 [GRCh37]
Chr8:12285464..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3 copy number gain See cases [RCV000136516] Chr8:12728904..40169194 [GRCh38]
Chr8:12586413..40026713 [GRCh37]
Chr8:12630784..40145870 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p21.2-12(chr8:24910364-31196357)x1 copy number loss See cases [RCV000136120] Chr8:24910364..31196357 [GRCh38]
Chr8:24767877..31053873 [GRCh37]
Chr8:24823781..31173415 [NCBI36]
Chr8:8p21.2-12
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3 copy number gain See cases [RCV000136825] Chr8:12725750..30180521 [GRCh38]
Chr8:12583259..30038037 [GRCh37]
Chr8:12627630..30157579 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3 copy number gain See cases [RCV000137249] Chr8:12182421..43673207 [GRCh38]
Chr8:12039930..43528350 [GRCh37]
Chr8:12077339..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3 copy number gain See cases [RCV000138058] Chr8:12698495..35476082 [GRCh38]
Chr8:12556004..35333600 [GRCh37]
Chr8:12600375..35453142 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p21.2-12(chr8:25171103-31750600)x1 copy number loss See cases [RCV000138081] Chr8:25171103..31750600 [GRCh38]
Chr8:25028618..31608116 [GRCh37]
Chr8:25084535..31727658 [NCBI36]
Chr8:8p21.2-12
pathogenic
GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3 copy number gain See cases [RCV000137807] Chr8:226452..38021728 [GRCh38]
Chr8:176452..37879246 [GRCh37]
Chr8:166452..37998403 [NCBI36]
Chr8:8p23.3-11.23
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3 copy number gain See cases [RCV000138831] Chr8:241605..31091074 [GRCh38]
Chr8:191605..30948590 [GRCh37]
Chr8:181605..31068132 [NCBI36]
Chr8:8p23.3-12
pathogenic
GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3 copy number gain See cases [RCV000138244] Chr8:12382844..28625564 [GRCh38]
Chr8:12240353..28483081 [GRCh37]
Chr8:12284724..28539000 [NCBI36]
Chr8:8p23.1-21.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3 copy number gain See cases [RCV000139891] Chr8:7141697..38695546 [GRCh38]
Chr8:6999219..38553064 [GRCh37]
Chr8:6986629..38672221 [NCBI36]
Chr8:8p23.1-11.22
pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3 copy number gain See cases [RCV000139770] Chr8:12729023..39235934 [GRCh38]
Chr8:12586532..39093453 [GRCh37]
Chr8:12630903..39212610 [NCBI36]
Chr8:8p23.1-11.22
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3 copy number gain See cases [RCV000139796] Chr8:12646123..43686843 [GRCh38]
Chr8:12503632..43541986 [GRCh37]
Chr8:12548003..43661143 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3 copy number gain See cases [RCV000139549] Chr8:11851113..37216333 [GRCh38]
Chr8:11708622..37073851 [GRCh37]
Chr8:11746031..37193009 [NCBI36]
Chr8:8p23.1-11.23
pathogenic
GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3 copy number gain See cases [RCV000141410] Chr8:226452..34491890 [GRCh38]
Chr8:176452..34349408 [GRCh37]
Chr8:166452..34468950 [NCBI36]
Chr8:8p23.3-12
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1 copy number loss See cases [RCV000142516] Chr8:12383584..29033946 [GRCh38]
Chr8:12241093..28891463 [GRCh37]
Chr8:12285464..28947382 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1 copy number loss See cases [RCV000142747] Chr8:18972996..33619264 [GRCh38]
Chr8:18830506..33476782 [GRCh37]
Chr8:18874786..33596324 [NCBI36]
Chr8:8p22-12
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3 copy number gain See cases [RCV000143508] Chr8:12633490..40685533 [GRCh38]
Chr8:12490999..40543052 [GRCh37]
Chr8:12535370..40662209 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000148237] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000148252] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.2-21.1
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000148249] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh37/hg19 8p21.3-12(chr8:20478546-28986438)x3 copy number gain See cases [RCV000203434] Chr8:20478546..28986438 [GRCh37]
Chr8:8p21.3-12
pathogenic
GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3 copy number gain See cases [RCV000511325] Chr8:12528482..39593802 [GRCh37]
Chr8:8p23.1-11.22
pathogenic
GRCh37/hg19 8p23.3-12(chr8:158048-30262760)x3 copy number gain See cases [RCV000449225] Chr8:158048..30262760 [GRCh37]
Chr8:8p23.3-12
pathogenic
GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3 copy number gain See cases [RCV000446588] Chr8:24772064..24813176 [GRCh37]
Chr8:8p21.2-q12.1
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:158048-43786723)x3 copy number gain See cases [RCV000447909] Chr8:158048..43786723 [GRCh37]
Chr8:8p23.3-11.1
pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3 copy number gain See cases [RCV000447913] Chr8:12580132..43388233 [GRCh37]
Chr8:8p23.1-11.1
pathogenic
GRCh37/hg19 8p21.2-12(chr8:24514488-34808438) copy number gain See cases [RCV000448582] Chr8:24514488..34808438 [GRCh37]
Chr8:8p21.2-12
pathogenic
GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1 copy number loss not provided [RCV000509389] Chr8:16992973..32612724 [GRCh37]
Chr8:8p22-12
not provided
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.1-12(chr8:12528482-33684786)x3 copy number gain See cases [RCV000510571] Chr8:12528482..33684786 [GRCh37]
Chr8:8p23.1-12
pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3 copy number gain See cases [RCV000511028] Chr8:11935023..43824035 [GRCh37]
Chr8:8p23.1-11.1
pathogenic
GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3 copy number gain See cases [RCV000510899] Chr8:11945855..34875355 [GRCh37]
Chr8:8p23.1-12
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3 copy number gain not provided [RCV000683043] Chr8:12552775..35935825 [GRCh37]
Chr8:8p23.1-12
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p21.2(chr8:27381918-27390246)x1 copy number loss not provided [RCV000747494] Chr8:27381918..27390246 [GRCh37]
Chr8:8p21.2
benign
GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3 copy number gain not provided [RCV000762735] Chr8:12556004..34374150 [GRCh37]
Chr8:8p23.1-12
likely pathogenic
NM_001979.6(EPHX2):c.1218_1219del (p.Ser407fs) deletion not provided [RCV000999009] Chr8:27536829..27536830 [GRCh38]
Chr8:27394346..27394347 [GRCh37]
Chr8:8p21.1
uncertain significance
NM_001979.6(EPHX2):c.1251A>G (p.Leu417=) single nucleotide variant not provided [RCV000929034] Chr8:27538667 [GRCh38]
Chr8:27396184 [GRCh37]
Chr8:8p21.1
likely benign
Single allele duplication not provided [RCV000768452] Chr8:12546855..35816855 [GRCh37]
Chr8:8p23.1-12
likely pathogenic
NM_001979.6(EPHX2):c.63C>A (p.Gly21=) single nucleotide variant not provided [RCV000960155] Chr8:27491271 [GRCh38]
Chr8:27348788 [GRCh37]
Chr8:8p21.2
benign
NM_001979.6(EPHX2):c.1298C>T (p.Pro433Leu) single nucleotide variant not provided [RCV000999010] Chr8:27540575 [GRCh38]
Chr8:27398092 [GRCh37]
Chr8:8p21.1
uncertain significance
NM_001979.6(EPHX2):c.1650G>A (p.Pro550=) single nucleotide variant not provided [RCV000999012] Chr8:27544504 [GRCh38]
Chr8:27402021 [GRCh37]
Chr8:8p21.1
uncertain significance
NM_001979.6(EPHX2):c.155G>A (p.Arg52Gln) single nucleotide variant not provided [RCV000965444] Chr8:27500979 [GRCh38]
Chr8:27358496 [GRCh37]
Chr8:8p21.1
benign
GRCh37/hg19 8p21.3-21.2(chr8:22442548-27369334)x1 copy number loss not provided [RCV000847074] Chr8:22442548..27369334 [GRCh37]
Chr8:8p21.3-21.2
pathogenic
GRCh37/hg19 8p21.2-21.1(chr8:24305969-28673405)x1 copy number loss not provided [RCV001006090] Chr8:24305969..28673405 [GRCh37]
Chr8:8p21.2-21.1
pathogenic
NM_001979.6(EPHX2):c.910+5G>A single nucleotide variant not provided [RCV000999008] Chr8:27516403 [GRCh38]
Chr8:27373920 [GRCh37]
Chr8:8p21.1
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_001979.6(EPHX2):c.946-5C>T single nucleotide variant not provided [RCV000956580] Chr8:27520878 [GRCh38]
Chr8:27378395 [GRCh37]
Chr8:8p21.1
benign
NM_001979.6(EPHX2):c.1450-4C>A single nucleotide variant not provided [RCV000999011] Chr8:27543745 [GRCh38]
Chr8:27401262 [GRCh37]
Chr8:8p21.1
uncertain significance
GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3 copy number gain not provided [RCV001260030] Chr8:12528482..29886483 [GRCh37]
Chr8:8p23.1-12
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3402 AgrOrtholog
COSMIC EPHX2 COSMIC
Ensembl Genes ENSG00000120915 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000369843 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000427956 UniProtKB/TrEMBL
  ENSP00000428191 UniProtKB/TrEMBL
  ENSP00000428875 UniProtKB/TrEMBL
  ENSP00000430269 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000430302 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000430779 UniProtKB/TrEMBL
Ensembl Transcript ENST00000380476 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000517536 UniProtKB/TrEMBL
  ENST00000518328 UniProtKB/TrEMBL
  ENST00000518379 UniProtKB/TrEMBL
  ENST00000521400 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000521684 UniProtKB/TrEMBL
  ENST00000521780 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.150.240 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.1000 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.1820 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000120915 GTEx
HGNC ID HGNC:3402 ENTREZGENE
Human Proteome Map EPHX2 Human Proteome Map
InterPro AB_hydrolase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AB_hydrolase_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Epox_hydrolase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HAD-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HAD-SF_hydro_IA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HAD-SF_ppase_IA/epoxid_hydro_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HAD_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HAD_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PGP-like_dom2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2053 UniProtKB/Swiss-Prot
NCBI Gene 2053 ENTREZGENE
OMIM 132811 OMIM
  143890 OMIM
Pfam Abhydrolase_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HAD_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27830 PharmGKB
PRINTS ABHYDROLASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EPOXHYDRLASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HADHALOGNASE UniProtKB/TrEMBL
Superfamily-SCOP SSF53474 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56784 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs HAD-1A3-hyp UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HAD-SF-IA-v3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt E5RFH6_HUMAN UniProtKB/TrEMBL
  E5RFU2_HUMAN UniProtKB/TrEMBL
  E5RI53_HUMAN UniProtKB/TrEMBL
  H0YAW7_HUMAN UniProtKB/TrEMBL
  HYES_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B2Z3B1 UniProtKB/Swiss-Prot
  B3KTU8 UniProtKB/Swiss-Prot
  B3KUA0 UniProtKB/Swiss-Prot
  G3V134 UniProtKB/Swiss-Prot
  J3KPH7 UniProtKB/Swiss-Prot
  Q16764 UniProtKB/Swiss-Prot
  Q9HBJ1 UniProtKB/Swiss-Prot
  Q9HBJ2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-26 EPHX2  epoxide hydrolase 2    epoxide hydrolase 2, cytoplasmic  Symbol and/or name change 5135510 APPROVED