IDH2 (isocitrate dehydrogenase (NADP(+)) 2) - Rat Genome Database
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: IDH2 (isocitrate dehydrogenase (NADP(+)) 2) Homo sapiens
Analyze
Symbol: IDH2
Name: isocitrate dehydrogenase (NADP(+)) 2
RGD ID: 1313391
HGNC Page HGNC
Description: Exhibits isocitrate dehydrogenase (NADP+) activity. Predicted to be involved in 2-oxoglutarate metabolic process; NADP metabolic process; and isocitrate metabolic process. Localizes to mitochondrion. Implicated in D-2-hydroxyglutaric aciduria 2; acute myeloid leukemia; hepatocellular clear cell carcinoma; and intrahepatic cholangiocarcinoma. Biomarker of hepatocellular carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: D2HGA2; ICD-M; IDH; IDHM; IDP; IDPM; isocitrate dehydrogenase (NADP(+)) 2, mitochondrial; isocitrate dehydrogenase 2 (NADP+), mitochondrial; isocitrate dehydrogenase [NADP], mitochondrial; isocitrate dehydrogenase, mitochondrial; mNADP-IDH; NADP(+)-specific ICDH; NADP+-specific ICDH; oxalosuccinate decarboxylase
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 Ensembl1590,083,045 - 90,102,477 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl1590,083,045 - 90,102,504 (-)EnsemblGRCh38hg38GRCh38
GRCh381590,083,045 - 90,102,468 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371590,626,277 - 90,645,700 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361588,428,214 - 88,446,712 (-)NCBINCBI36hg18NCBI36
Build 341588,428,217 - 88,446,712NCBI
Celera1567,031,136 - 67,049,657 (-)NCBI
Cytogenetic Map15q26.1NCBI
HuRef1566,738,326 - 66,745,989 (-)NCBIHuRef
CHM1_11590,468,783 - 90,487,361 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(N(omega)-L-arginino)succinic acid  (ISO)
(R)-adrenaline  (ISO)
(R)-carnitine  (ISO)
(R)-pantothenic acid  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2'-deoxycytosine 5'-monophosphate  (ISO)
2'-deoxyguanosine 5'-monophosphate  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-amino-2-deoxy-D-glucopyranose 6-phosphate  (ISO)
2-hydroxyglutaric acid  (ISO)
2-hydroxypropanoic acid  (ISO)
3',5'-cyclic AMP  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-dehydrocarnitine  (ISO)
3-methylcholanthrene  (EXP)
3-phosphoglyceric acid  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-(trimethylammonio)butanoate  (ISO)
5'-S-methyl-5'-thioadenosine  (ISO)
5-(hydroxymethyl)cytosine  (ISO)
7H-xanthine  (ISO)
9H-xanthine  (ISO)
acetamide  (ISO)
aconitic acid  (ISO)
adenosine  (ISO)
ADP  (ISO)
aflatoxin B1  (EXP,ISO)
aldehydo-D-glucosamine 6-phosphate  (ISO)
alendronic acid  (ISO)
alpha-D-glucose 1-phosphate  (ISO)
aluminium atom  (ISO)
aluminium(0)  (ISO)
amiodarone  (ISO)
aristolochic acid  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP,ISO)
aspartame  (ISO)
benzo[a]pyrene  (ISO)
benzo[a]pyrene diol epoxide I  (EXP)
beta-D-fructofuranose 1,6-bisphosphate  (ISO)
bilirubin IXalpha  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bleomycin A2  (ISO)
butan-1-ol  (EXP)
carbon nanotube  (ISO)
choline  (ISO)
chromium(6+)  (ISO)
cisplatin  (EXP)
clobetasol  (ISO)
cobalt dichloride  (EXP)
copper(II) sulfate  (EXP)
creatinine  (ISO)
cyclosporin A  (EXP)
cytidine  (ISO)
D-erythrose 4-phosphate  (ISO)
D-fructofuranose 1,6-bisphosphate  (ISO)
D-glyceric acid  (ISO)
diarsenic trioxide  (EXP,ISO)
diclofenac  (ISO)
dihydroxyacetone phosphate  (ISO)
diuron  (ISO)
doxorubicin  (EXP,ISO)
dTMP  (ISO)
endosulfan  (ISO)
ethanol  (EXP,ISO)
FMN  (ISO)
folic acid  (EXP,ISO)
GDP-alpha-D-glucose  (ISO)
glutathione  (ISO)
glyceric acid  (ISO)
glycerol 1-phosphate  (ISO)
glycine betaine  (ISO)
guanine  (ISO)
hyaluronic acid  (ISO)
hydrogen peroxide  (EXP,ISO)
hydrogen sulfide  (EXP,ISO)
keto-D-fructose 1,6-bisphosphate  (ISO)
L-alanine  (ISO)
L-methionine  (ISO)
lamivudine  (ISO)
malic acid  (ISO)
methapyrilene  (ISO)
methylisothiazolinone  (EXP)
monosodium L-glutamate  (ISO)
N-acetyl-L-cysteine  (ISO)
N-methylnicotinamide  (ISO)
N-nitrosodiethylamine  (ISO)
NAD zwitterion  (ISO)
NAD(+)  (ISO)
NADP zwitterion  (ISO)
NADP(+)  (ISO)
nickel dichloride  (EXP)
O-acetyl-L-carnitine  (ISO)
O-butanoyl-L-carnitine  (ISO)
oxybenzone  (ISO)
paclitaxel  (EXP)
paracetamol  (EXP)
paraquat  (ISO)
perfluorononanoic acid  (EXP)
perfluorooctanoic acid  (ISO)
phenobarbital  (EXP,ISO)
phlorizin  (ISO)
pirinixic acid  (EXP,ISO)
potassium chromate  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
prostaglandin A1  (ISO)
pyruvic acid  (ISO)
rac-lactic acid  (ISO)
raloxifene  (EXP,ISO)
resveratrol  (EXP,ISO)
rotenone  (ISO)
sedoheptulose 1,7-bisphosphate  (ISO)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
sodium fluoride  (ISO)
sodium sulfide (anhydrous)  (ISO)
Soman  (ISO)
spermine  (ISO)
streptozocin  (ISO)
sunitinib  (EXP)
tamoxifen  (EXP)
taurine  (ISO)
tert-butyl hydroperoxide  (EXP)
tetrachloromethane  (ISO)
triazines  (ISO)
trilobatin  (ISO)
trovafloxacin  (ISO)
tunicamycin  (EXP)
UDP  (ISO)
UDP-N-acetyl-alpha-D-glucosamine  (ISO)
uridine  (ISO)
valproic acid  (EXP)
vincaleukoblastine  (EXP)
VX nerve agent  (ISO)
XL147  (ISO)
zidovudine  (ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
1. Gano LB, etal., Free Radic Biol Med. 2018 Aug 1;123:116-124. doi: 10.1016/j.freeradbiomed.2018.05.063. Epub 2018 May 17.
2. GOA_HUMAN data from the GO Consortium
3. Gong F, etal., Biochem Biophys Res Commun. 2019 Jun 30;514(3):593-600. doi: 10.1016/j.bbrc.2019.04.069. Epub 2019 May 4.
4. Han SJ, etal., Redox Biol. 2018 Apr;14:142-153. doi: 10.1016/j.redox.2017.09.003. Epub 2017 Sep 8.
5. Kim H, etal., Biochim Biophys Acta Mol Basis Dis. 2019 Sep 1;1865(9):2333-2341. doi: 10.1016/j.bbadis.2019.05.012. Epub 2019 May 20.
6. Liu WR, etal., J Exp Clin Cancer Res. 2014 Apr 10;33:32. doi: 10.1186/1756-9966-33-32.
7. Marcucci G, etal., J Clin Oncol. 2010 May 10;28(14):2348-55. doi: 10.1200/JCO.2009.27.3730. Epub 2010 Apr 5.
8. OMIM Disease Annotation Pipeline
9. Pan JH, etal., Nutrients. 2018 May 27;10(6). pii: nu10060679. doi: 10.3390/nu10060679.
10. Pipeline to import KEGG annotations from KEGG into RGD
11. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
12. RGD automated import pipeline for gene-chemical interactions
13. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
14. Shang Z, etal., Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2013 Jun;21(3):607-12. doi: 10.7534/j.issn.1009-2137.2013.03.014.
15. Wang F, etal., J Inherit Metab Dis. 2016 Nov;39(6):807-820. doi: 10.1007/s10545-016-9960-y. Epub 2016 Jul 28.
16. Wang P, etal., Oncogene. 2013 Jun 20;32(25):3091-100. doi: 10.1038/onc.2012.315. Epub 2012 Jul 23.
17. Willander K, etal., Biomark Res. 2014 Oct 8;2:18. doi: 10.1186/2050-7771-2-18. eCollection 2014.
18. Zhang H, etal., Med Oncol. 2014 Nov;31(11):278. doi: 10.1007/s12032-014-0278-z. Epub 2014 Oct 22.
Additional References at PubMed
PMID:11969   PMID:564083   PMID:752528   PMID:965003   PMID:970033   PMID:3363531   PMID:8125298   PMID:8707889   PMID:8954790   PMID:12477932   PMID:12665801   PMID:15489334  
PMID:16396496   PMID:17854715   PMID:18029348   PMID:18096511   PMID:18484410   PMID:18806796   PMID:19228619   PMID:19350208   PMID:19469031   PMID:19530255   PMID:19554337   PMID:19667985  
PMID:19765000   PMID:19915015   PMID:19915484   PMID:19933982   PMID:20131059   PMID:20142433   PMID:20160062   PMID:20171147   PMID:20367200   PMID:20376084   PMID:20410924   PMID:20421455  
PMID:20427748   PMID:20465388   PMID:20485375   PMID:20494930   PMID:20508616   PMID:20510884   PMID:20538800   PMID:20567020   PMID:20603105   PMID:20625116   PMID:20659156   PMID:20678218  
PMID:20692206   PMID:20713124   PMID:20833797   PMID:20847235   PMID:20861910   PMID:20877624   PMID:20880116   PMID:20929316   PMID:20929327   PMID:20946881   PMID:20962861   PMID:20962862  
PMID:20972461   PMID:20975057   PMID:21075857   PMID:21079611   PMID:21080178   PMID:21130701   PMID:21173122   PMID:21225914   PMID:21233841   PMID:21284999   PMID:21289278   PMID:21294161  
PMID:21307773   PMID:21319273   PMID:21326614   PMID:21346257   PMID:21383741   PMID:21454467   PMID:21480859   PMID:21504050   PMID:21596855   PMID:21598255   PMID:21625441   PMID:21643842  
PMID:21643985   PMID:21647152   PMID:21647154   PMID:21690245   PMID:21741430   PMID:21867611   PMID:21873635   PMID:21874255   PMID:21885076   PMID:21889589   PMID:21904853   PMID:21988832  
PMID:21996744   PMID:21997850   PMID:22002076   PMID:22020636   PMID:22033490   PMID:22034964   PMID:22057234   PMID:22057236   PMID:22072542   PMID:22106302   PMID:22136423   PMID:22147457  
PMID:22166653   PMID:22180306   PMID:22215888   PMID:22217666   PMID:22270848   PMID:22323113   PMID:22343901   PMID:22360629   PMID:22360810   PMID:22385606   PMID:22397365   PMID:22399191  
PMID:22410704   PMID:22415316   PMID:22416140   PMID:22427879   PMID:22494415   PMID:22503487   PMID:22520341   PMID:22616558   PMID:22683334   PMID:22687971   PMID:22781800   PMID:22790483  
PMID:22825915   PMID:22890969   PMID:22917530   PMID:22922872   PMID:22929312   PMID:23015095   PMID:23038259   PMID:23039322   PMID:23071358   PMID:23074281   PMID:23111198   PMID:23115158  
PMID:23135354   PMID:23187294   PMID:23192014   PMID:23226729   PMID:23232569   PMID:23264629   PMID:23330999   PMID:23361564   PMID:23365461   PMID:23373447   PMID:23391413   PMID:23410661  
PMID:23451940   PMID:23494632   PMID:23512379   PMID:23532369   PMID:23533145   PMID:23598960   PMID:23641016   PMID:23681562   PMID:23689617   PMID:23752268   PMID:23798571   PMID:23874603  
PMID:23877318   PMID:23894344   PMID:23918605   PMID:23996483   PMID:23999441   PMID:24065766   PMID:24104479   PMID:24149775   PMID:24295421   PMID:24311631   PMID:24333121   PMID:24374336  
PMID:24403254   PMID:24418992   PMID:24443894   PMID:24460285   PMID:24478380   PMID:24532263   PMID:24549719   PMID:24569570   PMID:24606448   PMID:24699305   PMID:24722048   PMID:24797263  
PMID:24860178   PMID:24867810   PMID:24868540   PMID:24877111   PMID:24880135   PMID:24887488   PMID:24898068   PMID:24936872   PMID:24993250   PMID:24995286   PMID:25008158   PMID:25040869  
PMID:25043045   PMID:25078896   PMID:25251602   PMID:25315684   PMID:25437307   PMID:25486927   PMID:25495392   PMID:25524848   PMID:25586680   PMID:25651001   PMID:25652153   PMID:25783747  
PMID:25811801   PMID:25818003   PMID:25836588   PMID:25921289   PMID:25987093   PMID:26007236   PMID:26016821   PMID:26046462   PMID:26061753   PMID:26125858   PMID:26147657   PMID:26158269  
PMID:26186194   PMID:26188014   PMID:26189213   PMID:26194445   PMID:26228814   PMID:26268241   PMID:26314843   PMID:26331834   PMID:26338964   PMID:26344197   PMID:26486081   PMID:26496610  
PMID:26545048   PMID:26553362   PMID:26558387   PMID:26562302   PMID:26618866   PMID:26635288   PMID:26646705   PMID:26669865   PMID:26703962   PMID:26761588   PMID:26780338   PMID:26782630  
PMID:26819452   PMID:26834160   PMID:26945349   PMID:26957363   PMID:26960449   PMID:26980223   PMID:26987944   PMID:27005468   PMID:27173435   PMID:27231123   PMID:27245697   PMID:27353503  
PMID:27401888   PMID:27431380   PMID:27435003   PMID:27466503   PMID:27503909   PMID:27528759   PMID:27548812   PMID:27591990   PMID:27624942   PMID:27649069   PMID:27780605   PMID:27913435  
PMID:27956631   PMID:27978414   PMID:27997717   PMID:28084339   PMID:28091987   PMID:28116838   PMID:28148839   PMID:28218607   PMID:28228392   PMID:28297679   PMID:28340142   PMID:28380382  
PMID:28408400   PMID:28443643   PMID:28493366   PMID:28514442   PMID:28536275   PMID:28549927   PMID:28552826   PMID:28561688   PMID:28653623   PMID:28687222   PMID:28748342   PMID:28785587  
PMID:28860121   PMID:28945625   PMID:29016871   PMID:29090344   PMID:29126125   PMID:29128334   PMID:29243965   PMID:29272522   PMID:29288860   PMID:29331416   PMID:29339439   PMID:29367755  
PMID:29465809   PMID:29472349   PMID:29522183   PMID:29543066   PMID:29549529   PMID:29603332   PMID:29633022   PMID:29723602   PMID:29761621   PMID:29863707   PMID:29874711   PMID:29950729  
PMID:29955894   PMID:30115812   PMID:30128035   PMID:30131249   PMID:30176240   PMID:30194083   PMID:30220117   PMID:30299371   PMID:30334576   PMID:30355724   PMID:30425250   PMID:30427756  
PMID:30442662   PMID:30463901   PMID:30506321   PMID:30575818   PMID:30833792   PMID:30948266   PMID:30952970   PMID:31028406   PMID:31068457   PMID:31091453   PMID:31092874   PMID:31134296  
PMID:31215469   PMID:31221981   PMID:31257503   PMID:31418360   PMID:31479414   PMID:31536960   PMID:31542634   PMID:31586073   PMID:31599393   PMID:31607296   PMID:31609487   PMID:31615936  
PMID:31685963   PMID:31706195   PMID:31727977   PMID:31833906   PMID:31876581   PMID:31895700   PMID:32027343   PMID:32089268   PMID:32150688   PMID:32212799   PMID:32222932   PMID:32227259  
PMID:32293336   PMID:32358888   PMID:32367071   PMID:32382048   PMID:32457219   PMID:32457458   PMID:32877691   PMID:32882760   PMID:32955829   PMID:32978444  


Genomics

Comparative Map Data
IDH2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1590,083,045 - 90,102,477 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl1590,083,045 - 90,102,504 (-)EnsemblGRCh38hg38GRCh38
GRCh381590,083,045 - 90,102,468 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371590,626,277 - 90,645,700 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361588,428,214 - 88,446,712 (-)NCBINCBI36hg18NCBI36
Build 341588,428,217 - 88,446,712NCBI
Celera1567,031,136 - 67,049,657 (-)NCBI
Cytogenetic Map15q26.1NCBI
HuRef1566,738,326 - 66,745,989 (-)NCBIHuRef
CHM1_11590,468,783 - 90,487,361 (-)NCBICHM1_1
Idh2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39779,744,594 - 79,768,356 (-)NCBIGRCm39mm39
GRCm39 Ensembl779,744,594 - 79,765,140 (-)Ensembl
GRCm38780,094,845 - 80,118,608 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl780,094,846 - 80,115,392 (-)EnsemblGRCm38mm10GRCm38
MGSCv37787,239,732 - 87,260,236 (-)NCBIGRCm37mm9NCBIm37
MGSCv36779,968,359 - 79,988,834 (-)NCBImm8
Celera777,493,303 - 77,513,823 (-)NCBICelera
Cytogenetic Map7D2NCBI
cM Map745.43NCBI
Idh2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21134,038,644 - 134,057,969 (-)NCBI
Rnor_6.0 Ensembl1141,866,283 - 141,893,705 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01141,874,354 - 141,893,674 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01142,830,040 - 142,849,360 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41135,876,052 - 135,895,373 (-)NCBIRGSC3.4rn4RGSC3.4
Celera1126,099,085 - 126,118,402 (-)NCBICelera
Cytogenetic Map1q31NCBI
Idh2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541615,197,366 - 15,223,363 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541615,197,611 - 15,212,919 (+)NCBIChiLan1.0ChiLan1.0
IDH2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11587,972,883 - 87,991,270 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1587,972,889 - 87,991,276 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01568,771,050 - 68,790,523 (-)NCBIMhudiblu_PPA_v0panPan3
IDH2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1353,070,462 - 53,077,566 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl353,070,695 - 53,087,496 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha355,708,523 - 55,724,976 (-)NCBI
ROS_Cfam_1.0353,486,432 - 53,502,992 (-)NCBI
UMICH_Zoey_3.1353,006,922 - 53,023,434 (-)NCBI
UNSW_CanFamBas_1.0353,217,752 - 53,234,294 (-)NCBI
UU_Cfam_GSD_1.0353,558,279 - 53,574,816 (-)NCBI
Idh2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_ltri_2NW_024408640130,470,218 - 130,488,711 (+)NCBI
SpeTri2.0NW_00493648315,845,777 - 15,864,341 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
IDH2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl755,651,606 - 55,681,426 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1755,654,298 - 55,675,571 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2760,539,333 - 60,549,480 (-)NCBISscrofa10.2Sscrofa10.2susScr3
LOC103231165
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1298,633,429 - 8,650,744 (-)NCBI
ChlSab1.1 Ensembl298,633,715 - 8,650,657 (-)Ensembl
Idh2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476817,094,649 - 17,111,333 (-)NCBI

Position Markers
A009O05  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371590,631,506 - 90,631,608UniSTSGRCh37
Build 361588,432,510 - 88,432,612RGDNCBI36
Celera1567,035,432 - 67,035,534RGD
Cytogenetic Map15q26.1UniSTS
HuRef1566,742,622 - 66,742,724UniSTS
GeneMap99-GB4 RH Map15318.56UniSTS
IDH2_7805  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371590,627,107 - 90,627,542UniSTSGRCh37
Build 361588,428,111 - 88,428,546RGDNCBI36
Celera1567,031,033 - 67,031,468RGD
HuRef1566,738,223 - 66,738,658UniSTS
STS-X69433  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371590,627,245 - 90,627,422UniSTSGRCh37
Build 361588,428,249 - 88,428,426RGDNCBI36
Celera1567,031,171 - 67,031,348RGD
Cytogenetic Map15q26.1UniSTS
HuRef1566,738,361 - 66,738,538UniSTS
GeneMap99-GB4 RH Map15320.51UniSTS
NCBI RH Map15627.9UniSTS
G32697  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371590,631,506 - 90,631,608UniSTSGRCh37
Celera1567,035,432 - 67,035,534UniSTS
Cytogenetic Map15q26.1UniSTS
HuRef1566,742,622 - 66,742,724UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR183hsa-miR-183-5pMirtarbaseexternal_infoImmunocytochemistry//Luciferase reporter assay//qRFunctional MTI23263745

Predicted Target Of
Summary Value
Count of predictions:2701
Count of miRNA genes:909
Interacting mature miRNAs:1083
Transcripts:ENST00000330062, ENST00000539790, ENST00000540499, ENST00000559482, ENST00000560061
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 1 1 1 3 15 1
Medium 2436 2933 1584 624 1896 465 4355 2184 3722 415 1147 1607 175 1 1195 2788 6 2
Low 2 57 142 54 2 13 12 1 298 5 9
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_023302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001289910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001290114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC087284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC092769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC071828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC895649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC898572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY010337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU639652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU639653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU639654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU639655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU639656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU639657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU639658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU639659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU639660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU639661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU639662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU639663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU639664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU639665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU639666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU639667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU639668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU639669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU639670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT746180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X69433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000330062   ⟹   ENSP00000331897
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1590,083,045 - 90,102,468 (-)Ensembl
RefSeq Acc Id: ENST00000540499   ⟹   ENSP00000446147
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1590,084,177 - 90,100,695 (-)Ensembl
RefSeq Acc Id: ENST00000559482   ⟹   ENSP00000453016
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1590,084,014 - 90,102,477 (-)Ensembl
RefSeq Acc Id: ENST00000560061   ⟹   ENSP00000453254
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1590,083,996 - 90,102,468 (-)Ensembl
RefSeq Acc Id: NM_001289910   ⟹   NP_001276839
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381590,083,978 - 90,100,621 (-)NCBI
CHM1_11590,468,783 - 90,485,428 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001290114   ⟹   NP_001277043
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381590,083,045 - 90,102,468 (-)NCBI
CHM1_11590,468,783 - 90,487,361 (-)NCBI
Sequence:
RefSeq Acc Id: NM_002168   ⟹   NP_002159
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381590,083,045 - 90,102,468 (-)NCBI
GRCh371590,626,283 - 90,645,730 (-)NCBI
Build 361588,428,214 - 88,446,712 (-)NCBI Archive
HuRef1566,738,326 - 66,745,989 (-)ENTREZGENE
CHM1_11590,468,783 - 90,487,361 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001276839 (Get FASTA)   NCBI Sequence Viewer  
  NP_001277043 (Get FASTA)   NCBI Sequence Viewer  
  NP_002159 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH09244 (Get FASTA)   NCBI Sequence Viewer  
  AAH71828 (Get FASTA)   NCBI Sequence Viewer  
  AMR60740 (Get FASTA)   NCBI Sequence Viewer  
  AMR60741 (Get FASTA)   NCBI Sequence Viewer  
  AMR60742 (Get FASTA)   NCBI Sequence Viewer  
  AMR60743 (Get FASTA)   NCBI Sequence Viewer  
  AMR60744 (Get FASTA)   NCBI Sequence Viewer  
  AMR60745 (Get FASTA)   NCBI Sequence Viewer  
  AMR60746 (Get FASTA)   NCBI Sequence Viewer  
  AMR60747 (Get FASTA)   NCBI Sequence Viewer  
  AMR60748 (Get FASTA)   NCBI Sequence Viewer  
  AMR60749 (Get FASTA)   NCBI Sequence Viewer  
  AMR60750 (Get FASTA)   NCBI Sequence Viewer  
  AMR60751 (Get FASTA)   NCBI Sequence Viewer  
  AMR60752 (Get FASTA)   NCBI Sequence Viewer  
  AMR60753 (Get FASTA)   NCBI Sequence Viewer  
  AMR60754 (Get FASTA)   NCBI Sequence Viewer  
  AMR60755 (Get FASTA)   NCBI Sequence Viewer  
  AMR60756 (Get FASTA)   NCBI Sequence Viewer  
  AMR60757 (Get FASTA)   NCBI Sequence Viewer  
  AMR60758 (Get FASTA)   NCBI Sequence Viewer  
  BAD96636 (Get FASTA)   NCBI Sequence Viewer  
  BAG35513 (Get FASTA)   NCBI Sequence Viewer  
  BAG57473 (Get FASTA)   NCBI Sequence Viewer  
  BAG61808 (Get FASTA)   NCBI Sequence Viewer  
  BAH14759 (Get FASTA)   NCBI Sequence Viewer  
  CAA49208 (Get FASTA)   NCBI Sequence Viewer  
  CBN62262 (Get FASTA)   NCBI Sequence Viewer  
  CBN63691 (Get FASTA)   NCBI Sequence Viewer  
  EAX02082 (Get FASTA)   NCBI Sequence Viewer  
  EAX02083 (Get FASTA)   NCBI Sequence Viewer  
  P48735 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_002159   ⟸   NM_002168
- Peptide Label: isoform 1 precursor
- UniProtKB: P48735 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001277043   ⟸   NM_001290114
- Peptide Label: isoform 3
- UniProtKB: P48735 (UniProtKB/Swiss-Prot),   B4DSZ6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001276839   ⟸   NM_001289910
- Peptide Label: isoform 2
- UniProtKB: P48735 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000453016   ⟸   ENST00000559482
RefSeq Acc Id: ENSP00000453254   ⟸   ENST00000560061
RefSeq Acc Id: ENSP00000446147   ⟸   ENST00000540499
RefSeq Acc Id: ENSP00000331897   ⟸   ENST00000330062
Protein Domains
Iso_dh

Promoters
RGD ID:6810762
Promoter ID:HG_ACW:28019
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:IDH2.GAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361588,429,296 - 88,429,796 (-)MPROMDB
RGD ID:6815099
Promoter ID:HG_MRA:5611
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:AK294148,   AK316388
Position:
Human AssemblyChrPosition (strand)Source
Build 361588,445,484 - 88,445,984 (-)MPROMDB
RGD ID:6792375
Promoter ID:HG_KWN:22318
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:OTTHUMT00000313426,   UC010BNU.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361588,446,464 - 88,446,964 (-)MPROMDB
RGD ID:7230503
Promoter ID:EPDNEW_H20997
Type:initiation region
Name:IDH2_1
Description:isocitrate dehydrogenase (NADP(+)) 2, mitochondrial
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381590,102,468 - 90,102,528EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001289910.1(IDH2):c.263G>A (p.Arg88Gln) single nucleotide variant Acute myeloid leukemia [RCV000419192]|D-2-hydroxyglutaric aciduria 2 [RCV000015831]|Multiple myeloma [RCV000441454]|Myelodysplastic syndrome [RCV000431189]|Neoplasm of the large intestine [RCV000430530]|Squamous cell carcinoma of the head and neck [RCV000420290]|not provided [RCV000292094] Chr15:90088702 [GRCh38]
Chr15:90631934 [GRCh37]
Chr15:15q26.1
pathogenic|likely pathogenic
NM_001289910.1(IDH2):c.262C>G (p.Arg88Gly) single nucleotide variant D-2-hydroxyglutaric aciduria 2 [RCV000015832] Chr15:90088703 [GRCh38]
Chr15:90631935 [GRCh37]
Chr15:15q26.1
pathogenic
GRCh38/hg38 15q26.1-26.3(chr15:89679237-101978958)x3 copy number gain See cases [RCV000052354] Chr15:89679237..101978958 [GRCh38]
Chr15:90222468..102519161 [GRCh37]
Chr15:88023472..100336684 [NCBI36]
Chr15:15q26.1-26.3
pathogenic
GRCh38/hg38 15q24.2-26.3(chr15:75307767-101723215)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|See cases [RCV000052346] Chr15:75307767..101723215 [GRCh38]
Chr15:75600108..102263418 [GRCh37]
Chr15:73387161..100080941 [NCBI36]
Chr15:15q24.2-26.3
pathogenic
GRCh38/hg38 15q24.3-26.3(chr15:77543797-101843411)x3 copy number gain See cases [RCV000052347] Chr15:77543797..101843411 [GRCh38]
Chr15:77836139..102383614 [GRCh37]
Chr15:75623194..100201137 [NCBI36]
Chr15:15q24.3-26.3
pathogenic
GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3 copy number gain See cases [RCV000052352] Chr15:84169153..101904929 [GRCh38]
Chr15:84837905..102445132 [GRCh37]
Chr15:82628909..100262655 [NCBI36]
Chr15:15q25.2-26.3
pathogenic
NM_001289910.1(IDH2):c.894C>T (p.Thr298=) single nucleotide variant D-2-hydroxyglutaric aciduria 2 [RCV000534348]|not provided [RCV000676984]|not specified [RCV000146092] Chr15:90085305 [GRCh38]
Chr15:90628537 [GRCh37]
Chr15:15q26.1
benign|likely benign
NM_001289910.1(IDH2):c.1148C>T (p.Thr383Met) single nucleotide variant D-2-hydroxyglutaric aciduria 2 [RCV001081553]|not provided [RCV000676983]|not specified [RCV000146093] Chr15:90084321 [GRCh38]
Chr15:90627553 [GRCh37]
Chr15:15q26.1
benign|likely benign
NM_001289910.1(IDH2):c.171G>A (p.Val57=) single nucleotide variant D-2-hydroxyglutaric aciduria 2 [RCV000953565]|not specified [RCV000146094] Chr15:90090525 [GRCh38]
Chr15:90633757 [GRCh37]
Chr15:15q26.1
benign|likely benign|uncertain significance
NM_001289910.1(IDH2):c.218-10G>A single nucleotide variant not specified [RCV000146095] Chr15:90088757 [GRCh38]
Chr15:90631989 [GRCh37]
Chr15:15q26.1
likely benign|uncertain significance
NM_001289910.1(IDH2):c.783A>G (p.Gly261=) single nucleotide variant D-2-hydroxyglutaric aciduria 2 [RCV000967387]|not specified [RCV000146096] Chr15:90087140 [GRCh38]
Chr15:90630372 [GRCh37]
Chr15:15q26.1
benign|likely benign
NM_001289910.1(IDH2):c.837G>A (p.Thr279=) single nucleotide variant D-2-hydroxyglutaric aciduria 2 [RCV000974678]|not specified [RCV000146097] Chr15:90085362 [GRCh38]
Chr15:90628594 [GRCh37]
Chr15:15q26.1
benign|likely benign
NM_001289910.1(IDH2):c.840C>T (p.Ser280=) single nucleotide variant not provided [RCV000676985]|not specified [RCV000146098] Chr15:90085359 [GRCh38]
Chr15:90628591 [GRCh37]
Chr15:15q26.1
benign|likely benign
GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3 copy number gain See cases [RCV000135858] Chr15:83711377..101843270 [GRCh38]
Chr15:84380129..102383473 [GRCh37]
Chr15:82171133..100200996 [NCBI36]
Chr15:15q25.2-26.3
pathogenic
GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3 copy number gain See cases [RCV000135568] Chr15:87904735..101843270 [GRCh38]
Chr15:88447966..102383473 [GRCh37]
Chr15:86248970..100200996 [NCBI36]
Chr15:15q25.3-26.3
pathogenic
GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3 copy number gain See cases [RCV000136849] Chr15:82859676..101810992 [GRCh38]
Chr15:83528428..102351195 [GRCh37]
Chr15:81325482..100168718 [NCBI36]
Chr15:15q25.2-26.3
pathogenic
GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4 copy number gain See cases [RCV000137264] Chr15:85826665..101920998 [GRCh38]
Chr15:86369896..102461201 [GRCh37]
Chr15:84170900..100278724 [NCBI36]
Chr15:15q25.3-26.3
pathogenic
GRCh38/hg38 15q26.1(chr15:89821144-90216589)x1 copy number loss See cases [RCV000138296] Chr15:89821144..90216589 [GRCh38]
Chr15:90364376..90759821 [GRCh37]
Chr15:88165380..88560825 [NCBI36]
Chr15:15q26.1
likely benign
GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3 copy number gain See cases [RCV000141899] Chr15:85397539..101888909 [GRCh38]
Chr15:85940770..102429112 [GRCh37]
Chr15:83741774..100246635 [NCBI36]
Chr15:15q25.3-26.3
pathogenic
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 copy number gain See cases [RCV000142915] Chr15:59828460..101920998 [GRCh38]
Chr15:60120659..102461201 [GRCh37]
Chr15:57907951..100278724 [NCBI36]
Chr15:15q22.2-26.3
pathogenic
GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3 copy number gain See cases [RCV000143019] Chr15:72154949..101920998 [GRCh38]
Chr15:72447290..102461201 [GRCh37]
Chr15:70234344..100278724 [NCBI36]
Chr15:15q23-26.3
pathogenic
GRCh38/hg38 15q26.1-26.3(chr15:88676575-98364743)x3 copy number gain See cases [RCV000142727] Chr15:88676575..98364743 [GRCh38]
Chr15:89219806..98907972 [GRCh37]
Chr15:87020810..96725495 [NCBI36]
Chr15:15q26.1-26.3
pathogenic
NM_001289910.1(IDH2):c.626G>A (p.Arg209His) single nucleotide variant D-2-hydroxyglutaric aciduria 2 [RCV000887014]|not specified [RCV000193667] Chr15:90087472 [GRCh38]
Chr15:90630704 [GRCh37]
Chr15:15q26.1
benign|likely benign
NM_001289910.1(IDH2):c.882C>T (p.Ala294=) single nucleotide variant D-2-hydroxyglutaric aciduria 2 [RCV000891972]|not specified [RCV000194175] Chr15:90085317 [GRCh38]
Chr15:90628549 [GRCh37]
Chr15:15q26.1
benign|uncertain significance
NM_001289910.1(IDH2):c.273G>C (p.Leu91=) single nucleotide variant D-2-hydroxyglutaric aciduria 2 [RCV000967391]|not specified [RCV000194497] Chr15:90088692 [GRCh38]
Chr15:90631924 [GRCh37]
Chr15:15q26.1
benign|likely benign
NM_001289910.1(IDH2):c.517G>A (p.Asp173Asn) single nucleotide variant D-2-hydroxyglutaric aciduria 2 [RCV001084682]|not provided [RCV000439729]|not specified [RCV000192325] Chr15:90088364 [GRCh38]
Chr15:90631596 [GRCh37]
Chr15:15q26.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001289910.1(IDH2):c.1038G>A (p.Leu346=) single nucleotide variant not specified [RCV000192401] Chr15:90084893 [GRCh38]
Chr15:90628125 [GRCh37]
Chr15:15q26.1
uncertain significance
GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3 copy number gain See cases [RCV000511332] Chr15:76061144..102429112 [GRCh37]
Chr15:15q24.2-26.3
pathogenic
GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3 copy number gain See cases [RCV000240602] Chr15:64637227..102509910 [GRCh37]
Chr15:15q22.31-26.3
pathogenic
NM_001289910.1(IDH2):c.1132C>T (p.His378Tyr) single nucleotide variant not provided [RCV000490196] Chr15:90084337 [GRCh38]
Chr15:90627569 [GRCh37]
Chr15:15q26.1
likely pathogenic
NM_001289910.1(IDH2):c.841G>A (p.Val281Ile) single nucleotide variant not provided [RCV000488162] Chr15:90085358 [GRCh38]
Chr15:90628590 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001289910.1(IDH2):c.1000G>C (p.Asp334His) single nucleotide variant Inborn genetic diseases [RCV000622745]|not provided [RCV000523650] Chr15:90085023 [GRCh38]
Chr15:90628255 [GRCh37]
Chr15:15q26.1
uncertain significance
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3 copy number gain not provided [RCV000415836] Chr15:59297293..102480888 [GRCh37]
Chr15:15q22.1-26.3
likely pathogenic
GRCh37/hg19 15q25.2-26.3(chr15:85089467-102495441)x3 copy number gain See cases [RCV000449119] Chr15:85089467..102495441 [GRCh37]
Chr15:15q25.2-26.3
pathogenic
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 copy number gain See cases [RCV000447123] Chr15:41745084..102354798 [GRCh37]
Chr15:15q15.1-26.3
pathogenic
GRCh37/hg19 15q26.1-26.3(chr15:90346994-102354798) copy number loss See cases [RCV000447603] Chr15:90346994..102354798 [GRCh37]
Chr15:15q26.1-26.3
pathogenic
GRCh37/hg19 15q26.1-26.3(chr15:89924847-102429112)x3 copy number gain See cases [RCV000445978] Chr15:89924847..102429112 [GRCh37]
Chr15:15q26.1-26.3
pathogenic
NM_001289910.1(IDH2):c.360G>C (p.Arg120Ser) single nucleotide variant Acute myeloid leukemia [RCV000420486] Chr15:90088605 [GRCh38]
Chr15:90631837 [GRCh37]
Chr15:15q26.1
pathogenic
NM_001289910.1(IDH2):c.262C>T (p.Arg88Trp) single nucleotide variant Acute myeloid leukemia [RCV000421344]|Multiple myeloma [RCV000438997]|Myelodysplastic syndrome [RCV000428106]|Neoplasm of the large intestine [RCV000422389]|Squamous cell carcinoma of the head and neck [RCV000438361] Chr15:90088703 [GRCh38]
Chr15:90631935 [GRCh37]
Chr15:15q26.1
pathogenic|likely pathogenic
NM_001289910.1(IDH2):c.359G>A (p.Arg120Lys) single nucleotide variant Acute myeloid leukemia [RCV000421863]|Brainstem glioma [RCV000445068]|Hepatocellular carcinoma [RCV000426009]|Myelodysplastic syndrome [RCV000432566]|Neoplasm of brain [RCV000431485]|Neoplasm of the large intestine [RCV000444071] Chr15:90088606 [GRCh38]
Chr15:90631838 [GRCh37]
Chr15:15q26.1
pathogenic|likely pathogenic|not provided
NM_001289910.1(IDH2):c.359G>T (p.Arg120Met) single nucleotide variant Acute myeloid leukemia [RCV000431159]|Brainstem glioma [RCV000440790]|Hepatocellular carcinoma [RCV000422933]|Neoplasm of brain [RCV000440163]|Neoplasm of the large intestine [RCV000433618] Chr15:90088606 [GRCh38]
Chr15:90631838 [GRCh37]
Chr15:15q26.1
pathogenic|likely pathogenic
NM_001289910.1(IDH2):c.263G>T (p.Arg88Leu) single nucleotide variant Acute myeloid leukemia [RCV000424921]|Multiple myeloma [RCV000435643]|Myelodysplastic syndrome [RCV000419881]|Neoplasm of the large intestine [RCV000436884]|Squamous cell carcinoma of the head and neck [RCV000426646] Chr15:90088702 [GRCh38]
Chr15:90631934 [GRCh37]
Chr15:15q26.1
pathogenic|likely pathogenic
NM_001289910.1(IDH2):c.358A>G (p.Arg120Gly) single nucleotide variant Acute myeloid leukemia [RCV000429662]|Brainstem glioma [RCV000438062]|Hepatocellular carcinoma [RCV000440787]|Neoplasm of brain [RCV000423117]|Neoplasm of the large intestine [RCV000419393] Chr15:90088607 [GRCh38]
Chr15:90631839 [GRCh37]
Chr15:15q26.1
likely pathogenic
GRCh37/hg19 15q25.1-26.3(chr15:80648093-102429112)x3 copy number gain See cases [RCV000445705] Chr15:80648093..102429112 [GRCh37]
Chr15:15q25.1-26.3
pathogenic
NM_001289910.1(IDH2):c.358A>T (p.Arg120Trp) single nucleotide variant Acute myeloid leukemia [RCV000437853]|Brainstem glioma [RCV000431322]|Hepatocellular carcinoma [RCV000444821]|Neoplasm of brain [RCV000425002]|Neoplasm of the large intestine [RCV000420203] Chr15:90088607 [GRCh38]
Chr15:90631839 [GRCh37]
Chr15:15q26.1
likely pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q25.3-26.3(chr15:86148286-102511616)x3 copy number gain See cases [RCV000448044] Chr15:86148286..102511616 [GRCh37]
Chr15:15q25.3-26.3
pathogenic
GRCh37/hg19 15q25.3-26.1(chr15:88295992-94215607)x1 copy number loss See cases [RCV000448680] Chr15:88295992..94215607 [GRCh37]
Chr15:15q25.3-26.1
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
NM_001289910.1(IDH2):c.204G>A (p.Glu68=) single nucleotide variant D-2-hydroxyglutaric aciduria 2 [RCV000967630]|not specified [RCV000501042] Chr15:90090492 [GRCh38]
Chr15:90633724 [GRCh37]
Chr15:15q26.1
likely benign|uncertain significance
NM_001289910.1(IDH2):c.*10C>T single nucleotide variant not specified [RCV000501151] Chr15:90084256 [GRCh38]
Chr15:90627488 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001289910.1(IDH2):c.734T>C (p.Val245Ala) single nucleotide variant not specified [RCV000504115] Chr15:90087189 [GRCh38]
Chr15:90630421 [GRCh37]
Chr15:15q26.1
likely benign
NM_001289910.1(IDH2):c.539C>T (p.Ala180Val) single nucleotide variant not specified [RCV000499373] Chr15:90087559 [GRCh38]
Chr15:90630791 [GRCh37]
Chr15:15q26.1
likely benign
NM_001289910.1(IDH2):c.109C>T (p.Arg37Cys) single nucleotide variant not provided [RCV000494115] Chr15:90090587 [GRCh38]
Chr15:90633819 [GRCh37]
Chr15:15q26.1
uncertain significance
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
NM_001289910.1(IDH2):c.279dup (p.Thr94fs) duplication not provided [RCV000494496] Chr15:90088685..90088686 [GRCh38]
Chr15:90631917..90631918 [GRCh37]
Chr15:15q26.1
uncertain significance
GRCh37/hg19 15q25.3-26.3(chr15:86899001-98734014)x3 copy number gain See cases [RCV000511629] Chr15:86899001..98734014 [GRCh37]
Chr15:15q25.3-26.3
likely pathogenic
NM_001289910.1(IDH2):c.217+9G>T single nucleotide variant not provided [RCV000648388] Chr15:90090470 [GRCh38]
Chr15:90633702 [GRCh37]
Chr15:15q26.1
likely benign
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3
pathogenic
NM_002168.3(IDH2):c.23T>C (p.Val8Ala) single nucleotide variant D-2-hydroxyglutaric aciduria 2 [RCV000690494]|not provided [RCV000676986] Chr15:90102368 [GRCh38]
Chr15:90645600 [GRCh37]
Chr15:15q26.1
uncertain significance
GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3 copy number gain not provided [RCV000683703] Chr15:71329220..102270758 [GRCh37]
Chr15:15q23-26.3
pathogenic
GRCh37/hg19 15q26.1-26.3(chr15:89743929-102429112)x3 copy number gain not provided [RCV000683718] Chr15:89743929..102429112 [GRCh37]
Chr15:15q26.1-26.3
pathogenic
GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3 copy number gain not provided [RCV000683710] Chr15:77479244..102429112 [GRCh37]
Chr15:15q24.3-26.3
pathogenic
GRCh37/hg19 15q25.3-26.3(chr15:88385150-102461162)x3 copy number gain not provided [RCV000738864] Chr15:88385150..102461162 [GRCh37]
Chr15:15q25.3-26.3
pathogenic
GRCh37/hg19 15q26.1-26.3(chr15:90277151-102376761)x3 copy number gain not provided [RCV000751387] Chr15:90277151..102376761 [GRCh37]
Chr15:15q26.1-26.3
pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
NM_002168.4(IDH2):c.252C>T (p.Leu84=) single nucleotide variant not provided [RCV000937962] Chr15:90090600 [GRCh38]
Chr15:90633832 [GRCh37]
Chr15:15q26.1
likely benign
NM_002168.4(IDH2):c.1146G>A (p.Arg382=) single nucleotide variant not provided [RCV000940025] Chr15:90085033 [GRCh38]
Chr15:90628265 [GRCh37]
Chr15:15q26.1
likely benign
NM_002168.4(IDH2):c.207+9C>T single nucleotide variant not provided [RCV000904157] Chr15:90091544 [GRCh38]
Chr15:90634776 [GRCh37]
Chr15:15q26.1
likely benign
NM_002168.4(IDH2):c.968-8C>T single nucleotide variant not provided [RCV000902649] Chr15:90085395 [GRCh38]
Chr15:90628627 [GRCh37]
Chr15:15q26.1
likely benign
NM_002168.4(IDH2):c.87C>G (p.Pro29=) single nucleotide variant not provided [RCV000897868] Chr15:90102304 [GRCh38]
Chr15:90645536 [GRCh37]
Chr15:15q26.1
likely benign
NM_002168.4(IDH2):c.216G>C (p.Leu72=) single nucleotide variant not provided [RCV000904553] Chr15:90090636 [GRCh38]
Chr15:90633868 [GRCh37]
Chr15:15q26.1
likely benign
NM_002168.4(IDH2):c.276T>C (p.Thr92=) single nucleotide variant D-2-hydroxyglutaric aciduria 2 [RCV000902965] Chr15:90090576 [GRCh38]
Chr15:90633808 [GRCh37]
Chr15:15q26.1
likely benign
NM_002168.4(IDH2):c.1003G>A (p.Val335Ile) single nucleotide variant D-2-hydroxyglutaric aciduria 2 [RCV000972177] Chr15:90085352 [GRCh38]
Chr15:90628584 [GRCh37]
Chr15:15q26.1
likely benign
NM_002168.4(IDH2):c.648C>T (p.Gly216=) single nucleotide variant not provided [RCV000920513] Chr15:90088389 [GRCh38]
Chr15:90631621 [GRCh37]
Chr15:15q26.1
benign
NM_002168.4(IDH2):c.293T>C (p.Ile98Thr) single nucleotide variant D-2-hydroxyglutaric aciduria 2 [RCV001038725] Chr15:90090559 [GRCh38]
Chr15:90633791 [GRCh37]
Chr15:15q26.1
uncertain significance
GRCh37/hg19 15q25.2-26.1(chr15:83883823-92165844) copy number loss not provided [RCV000767759] Chr15:83883823..92165844 [GRCh37]
Chr15:15q25.2-26.1
pathogenic
NM_002168.4(IDH2):c.729A>G (p.Lys243=) single nucleotide variant not provided [RCV000906960] Chr15:90087525 [GRCh38]
Chr15:90630757 [GRCh37]
Chr15:15q26.1
likely benign
NM_002168.4(IDH2):c.759C>G (p.Thr253=) single nucleotide variant not provided [RCV000919874] Chr15:90087495 [GRCh38]
Chr15:90630727 [GRCh37]
Chr15:15q26.1
likely benign
NM_001289910.1(IDH2):c.688A>G (p.Lys230Glu) single nucleotide variant D-2-hydroxyglutaric aciduria 2 [RCV000813854] Chr15:90087235 [GRCh38]
Chr15:90630467 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001289910.1(IDH2):c.973C>T (p.Arg325Cys) single nucleotide variant D-2-hydroxyglutaric aciduria 2 [RCV000795261] Chr15:90085050 [GRCh38]
Chr15:90628282 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_001289910.1(IDH2):c.432C>G (p.Phe144Leu) single nucleotide variant D-2-hydroxyglutaric aciduria 2 [RCV000797829] Chr15:90088449 [GRCh38]
Chr15:90631681 [GRCh37]
Chr15:15q26.1
uncertain significance
GRCh37/hg19 15q25.3-26.3(chr15:87189245-102429112)x1 copy number loss not provided [RCV001006718] Chr15:87189245..102429112 [GRCh37]
Chr15:15q25.3-26.3
pathogenic
GRCh37/hg19 15q26.1-26.3(chr15:90288175-102429112)x3 copy number gain not provided [RCV000846885] Chr15:90288175..102429112 [GRCh37]
Chr15:15q26.1-26.3
pathogenic
NM_002168.4(IDH2):c.120C>T (p.Ala40=) single nucleotide variant D-2-hydroxyglutaric aciduria 2 [RCV000888021] Chr15:90091640 [GRCh38]
Chr15:90634872 [GRCh37]
Chr15:15q26.1
likely benign
NM_002168.4(IDH2):c.1302C>G (p.Thr434=) single nucleotide variant D-2-hydroxyglutaric aciduria 2 [RCV000974773] Chr15:90084323 [GRCh38]
Chr15:90627555 [GRCh37]
Chr15:15q26.1
benign
NM_002168.4(IDH2):c.535-6C>T single nucleotide variant D-2-hydroxyglutaric aciduria 2 [RCV000938749] Chr15:90088508 [GRCh38]
Chr15:90631740 [GRCh37]
Chr15:15q26.1
likely benign
NM_002168.4(IDH2):c.207+4G>A single nucleotide variant D-2-hydroxyglutaric aciduria 2 [RCV000970557] Chr15:90091549 [GRCh38]
Chr15:90634781 [GRCh37]
Chr15:15q26.1
benign
NM_002168.4(IDH2):c.312C>T (p.Thr104=) single nucleotide variant not provided [RCV000895477] Chr15:90090540 [GRCh38]
Chr15:90633772 [GRCh37]
Chr15:15q26.1
benign
NM_002168.4(IDH2):c.141G>A (p.Ala47=) single nucleotide variant D-2-hydroxyglutaric aciduria 2 [RCV000884878] Chr15:90091619 [GRCh38]
Chr15:90634851 [GRCh37]
Chr15:15q26.1
likely benign
NM_002168.4(IDH2):c.427C>T (p.Leu143=) single nucleotide variant not provided [RCV000933883] Chr15:90088694 [GRCh38]
Chr15:90631926 [GRCh37]
Chr15:15q26.1
likely benign
NM_002168.4(IDH2):c.942T>C (p.Asp314=) single nucleotide variant D-2-hydroxyglutaric aciduria 2 [RCV000936055] Chr15:90087137 [GRCh38]
Chr15:90630369 [GRCh37]
Chr15:15q26.1
benign
GRCh37/hg19 15q26.1(chr15:90111672-90671886)x3 copy number gain not provided [RCV001006720] Chr15:90111672..90671886 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_002168.4(IDH2):c.1285G>A (p.Glu429Lys) single nucleotide variant not provided [RCV001093441] Chr15:90084340 [GRCh38]
Chr15:90627572 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_002168.4(IDH2):c.1354C>G (p.Gln452Glu) single nucleotide variant D-2-hydroxyglutaric aciduria 2 [RCV001203124] Chr15:90084271 [GRCh38]
Chr15:90627503 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_002168.4(IDH2):c.207+5T>C single nucleotide variant D-2-hydroxyglutaric aciduria 2 [RCV001196755] Chr15:90091548 [GRCh38]
Chr15:90634780 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_002168.4(IDH2):c.137T>A (p.Val46Glu) single nucleotide variant D-2-hydroxyglutaric aciduria 2 [RCV001036393] Chr15:90091623 [GRCh38]
Chr15:90634855 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_002168.4(IDH2):c.227A>G (p.Asp76Gly) single nucleotide variant D-2-hydroxyglutaric aciduria 2 [RCV001233032] Chr15:90090625 [GRCh38]
Chr15:90633857 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_002168.4(IDH2):c.923G>C (p.Cys308Ser) single nucleotide variant D-2-hydroxyglutaric aciduria 2 [RCV001220415] Chr15:90087156 [GRCh38]
Chr15:90630388 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_002168.4(IDH2):c.723G>C (p.Gln241His) single nucleotide variant D-2-hydroxyglutaric aciduria 2 [RCV001219243] Chr15:90087531 [GRCh38]
Chr15:90630763 [GRCh37]
Chr15:15q26.1
uncertain significance
NM_002168.4(IDH2):c.1039G>A (p.Ala347Thr) single nucleotide variant D-2-hydroxyglutaric aciduria 2 [RCV001028040] Chr15:90085316 [GRCh38]
Chr15:90628548 [GRCh37]
Chr15:15q26.1
likely pathogenic
GRCh37/hg19 15q25.3-26.3(chr15:86962053-102531392)x1 copy number loss See cases [RCV001263026] Chr15:86962053..102531392 [GRCh37]
Chr15:15q25.3-26.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:5383 AgrOrtholog
COSMIC IDH2 COSMIC
Ensembl Genes ENSG00000182054 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000331897 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000446147 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000453016 UniProtKB/TrEMBL
  ENSP00000453254 UniProtKB/TrEMBL
Ensembl Transcript ENST00000330062 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000540499 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000559482 UniProtKB/TrEMBL
  ENST00000560061 UniProtKB/TrEMBL
GTEx ENSG00000182054 GTEx
HGNC ID HGNC:5383 ENTREZGENE
Human Proteome Map IDH2 Human Proteome Map
InterPro IsoCit/isopropylmalate_DH_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Isocitrate_DH_NADP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IsoPropMal-DH-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3418 UniProtKB/Swiss-Prot
NCBI Gene 3418 ENTREZGENE
OMIM 147650 OMIM
  613657 OMIM
PANTHER PTHR11822 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Iso_dh UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29631 PharmGKB
PIRSF IDH_NADP UniProtKB/Swiss-Prot
PROSITE IDH_IMDH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Iso_dh UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs nadp_idh_euk UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1P8A7C0_HUMAN UniProtKB/TrEMBL
  B4DSZ6 ENTREZGENE, UniProtKB/TrEMBL
  H0YL11_HUMAN UniProtKB/TrEMBL
  H0YLL5_HUMAN UniProtKB/TrEMBL
  IDHP_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B2R6L6 UniProtKB/Swiss-Prot
  B4DFL2 UniProtKB/Swiss-Prot
  Q96GT3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-07-16 IDH2  isocitrate dehydrogenase (NADP(+)) 2  IDH2  isocitrate dehydrogenase (NADP(+)) 2, mitochondrial  Symbol and/or name change 5135510 APPROVED
2016-05-03 IDH2  isocitrate dehydrogenase (NADP(+)) 2, mitochondrial  IDH2  isocitrate dehydrogenase 2 (NADP+), mitochondrial  Symbol and/or name change 5135510 APPROVED