SESN2 (sestrin 2) - Rat Genome Database

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Gene: SESN2 (sestrin 2) Homo sapiens
Analyze
Symbol: SESN2
Name: sestrin 2
RGD ID: 1346813
HGNC Page HGNC:20746
Description: Enables several functions, including L-leucine binding activity; protein sequestering activity; and sulfiredoxin activity. Involved in several processes, including DNA damage response, signal transduction by p53 class mediator; regulation of TORC1 signaling; and regulation of protein metabolic process. Located in cytoplasm. Part of Atg1/ULK1 kinase complex. Is active in lysosomal membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DKFZp761M0212; DKFZp761M02121; HI95; hypoxia induced gene 95; hypoxia-induced; SES2; SEST2; sestrin-2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38128,259,518 - 28,282,491 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl128,259,518 - 28,282,491 (+)Ensemblhg38GRCh38
GRCh37128,586,029 - 28,609,002 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36128,458,593 - 28,481,589 (+)NCBIBuild 36Build 36hg18NCBI36
Build 34128,270,147 - 28,293,143NCBI
Celera126,981,763 - 27,004,758 (+)NCBICelera
Cytogenetic Map1p35.3NCBI
HuRef126,842,331 - 26,865,372 (+)NCBIHuRef
CHM1_1128,701,469 - 28,724,501 (+)NCBICHM1_1
T2T-CHM13v2.0128,101,353 - 28,124,325 (+)NCBIT2T-CHM13v2.0
JBrowse:




Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(-)-demecolcine  (EXP)
(1->4)-beta-D-glucan  (ISO)
(E)-thiamethoxam  (ISO)
(S)-naringenin  (EXP)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (EXP)
17beta-estradiol  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-acetamidofluorene  (ISO)
2-amino-2-deoxy-D-galactopyranose  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-aminobenzohydrazide  (EXP)
4-hydroxynon-2-enal  (ISO)
4-hydroxyphenyl retinamide  (ISO)
4-phenylbutyric acid  (ISO)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
acrylamide  (EXP)
actinomycin D  (EXP)
aflatoxin B1  (EXP,ISO)
Aflatoxin B2 alpha  (EXP)
aldehydo-D-glucose  (EXP)
alternariol  (ISO)
AM-251  (EXP)
amino acid  (ISO)
amiodarone  (EXP)
amitrole  (ISO)
antimycin A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
azathioprine  (EXP)
azoxystrobin  (ISO)
benzalkonium chloride  (ISO)
benzene  (EXP)
benzene-1,2,4-triol  (EXP)
benzethonium chloride  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (ISO)
benzo[b]fluoranthene  (ISO)
beta-lapachone  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bromobenzene  (ISO)
bromuconazole  (ISO)
butanal  (EXP)
butylated hydroxyanisole  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
camptothecin  (EXP)
cannabidiol  (EXP)
carbamazepine  (EXP)
chloroprene  (ISO)
chlorpyrifos  (ISO)
chromium(6+)  (EXP)
chrysene  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
cobalt dichloride  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
Cuprizon  (ISO)
cycloheximide  (ISO)
cyclophosphamide  (EXP)
cyclosporin A  (EXP,ISO)
D-glucose  (EXP)
DDE  (EXP)
decabromodiphenyl ether  (ISO)
deguelin  (EXP)
desferrioxamine B  (EXP)
diallyl disulfide  (ISO)
diarsenic trioxide  (EXP)
dibenz[a,h]anthracene  (ISO)
dibenziodolium  (EXP)
dichloromethane  (EXP)
Didecyldimethylammonium  (EXP)
dimethyl-(phenylmethyl)-[2-[2-[4-(2,4,4-trimethylpentan-2-yl)phenoxy]ethoxy]ethyl]ammonium  (EXP)
dimethylarsinous acid  (EXP)
dioxygen  (ISO)
disodium selenite  (EXP)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
erastin  (EXP,ISO)
ethanol  (EXP,ISO)
ethyl methanesulfonate  (EXP)
ethylbenzene  (EXP)
fenamidone  (ISO)
fenpyroximate  (EXP)
ferrostatin-1  (EXP)
fluoranthene  (ISO)
flutamide  (ISO)
folic acid  (EXP)
formaldehyde  (EXP)
fulvestrant  (EXP)
furan  (ISO)
gamma-hexachlorocyclohexane  (EXP)
genistein  (EXP,ISO)
gentamycin  (ISO)
glucose  (EXP)
glutathione  (EXP,ISO)
glyphosate  (ISO)
hemin  (EXP,ISO)
hydrogen peroxide  (EXP,ISO)
hydroquinone  (EXP)
imidacloprid  (ISO)
indole-3-methanol  (ISO)
indoline  (ISO)
irinotecan  (EXP)
iron dichloride  (EXP)
isorhamnetin  (EXP)
L-ascorbic acid  (EXP)
leflunomide  (EXP)
levofloxacin  (ISO)
Licochalcone B  (EXP)
lipopolysaccharide  (EXP,ISO)
luteolin  (EXP,ISO)
manganese atom  (EXP)
manganese(0)  (EXP)
manganese(II) chloride  (EXP,ISO)
mercury dibromide  (EXP)
metformin  (ISO)
methamphetamine  (ISO)
methimazole  (ISO)
methotrexate  (EXP)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
mono(2-ethylhexyl) phthalate  (EXP)
motexafin gadolinium  (EXP)
N(4)-hydroxycytidine  (ISO)
N-acetyl-L-cysteine  (EXP)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
N-methyl-4-phenylpyridinium  (EXP,ISO)
N-nitrosodiethylamine  (ISO)
nefazodone  (ISO)
nimesulide  (ISO)
Nutlin-3  (EXP)
o-xylene  (EXP)
ochratoxin A  (EXP)
okadaic acid  (EXP)
oxaliplatin  (ISO)
ozone  (EXP)
p-chloromercuribenzoic acid  (EXP)
paracetamol  (EXP,ISO)
peptidoglycan  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (EXP)
phenobarbital  (EXP)
phenylhydrazine  (ISO)
phenylmercury acetate  (EXP)
picoxystrobin  (EXP)
pifithrin-alpha hydrobromide  (EXP,ISO)
pirinixic acid  (ISO)
poly(I:C)  (ISO)
progesterone  (EXP)
propanal  (EXP)
pterostilbene  (EXP,ISO)
pyrimidifen  (EXP)
quercetin  (EXP)
resveratrol  (EXP)
rotenone  (EXP,ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
S-butyl-DL-homocysteine (S,R)-sulfoximine  (EXP)
SB 203580  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP,ISO)
silver atom  (EXP)
silver(0)  (EXP)
simvastatin  (ISO)
sinapic acid  (ISO)
sirolimus  (EXP)
sodium arsenite  (EXP,ISO)
sorafenib  (EXP)
sunitinib  (EXP)
tert-butyl hydroperoxide  (ISO)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
tetraphene  (ISO)
thapsigargin  (EXP)
thiabendazole  (ISO)
thiamethoxam  (ISO)
thiazoles  (ISO)
thifluzamide  (EXP)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
toluene  (EXP)
topotecan  (ISO)
trichloroethene  (EXP,ISO)
trichostatin A  (EXP)
triphenyl phosphate  (EXP)
tris(2-butoxyethyl) phosphate  (EXP)
troglitazone  (EXP)
tunicamycin  (EXP,ISO)
urethane  (EXP)
valdecoxib  (ISO)
valproic acid  (EXP)
vincristine  (EXP)
zinc acetate  (EXP)
zinc atom  (EXP)
zinc sulfate  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
activation of protein kinase activity  (ISO)
cellular oxidant detoxification  (IDA,IMP)
cellular response to amino acid starvation  (IEA,IMP)
cellular response to amino acid stimulus  (IEA,IMP)
cellular response to glucose starvation  (IEA,IMP)
cellular response to L-leucine  (IBA,IDA,IMP)
cellular response to leucine starvation  (IBA,IDA,IMP)
cellular response to nutrient levels  (IDA)
cellular response to oxidative stress  (IEA,ISS)
D-glucose import  (IEA)
DNA damage response, signal transduction by p53 class mediator  (IEA,IMP)
fatty acid beta-oxidation  (IEA)
glucose homeostasis  (IEA)
mitochondrial DNA metabolic process  (IEA)
mitochondrion organization  (IEA)
negative regulation of cell growth  (IEA,ISS)
negative regulation of TORC1 signaling  (IBA,IDA,IEA,IMP)
negative regulation of translation in response to endoplasmic reticulum stress  (IEA,IMP)
positive regulation of lipophagy  (IEA)
positive regulation of macroautophagy  (IBA,IMP)
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction  (IEA)
positive regulation of protein localization to nucleus  (IMP)
positive regulation of TORC1 signaling  (IDA)
protein K6-linked ubiquitination  (IDA)
protein K63-linked ubiquitination  (IDA)
reactive oxygen species metabolic process  (IDA,IMP)
regulation of cAMP/PKA signal transduction  (IEA)
regulation of gluconeogenesis  (IEA)
regulation of protein phosphorylation  (IDA,ISO)
regulation of response to reactive oxygen species  (IEA)
regulation of TORC1 signaling  (IDA)
response to glucose  (IEA)
response to insulin  (IEA)
triglyceride homeostasis  (IEA)

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Amino Acid Sensing by mTORC1: Intracellular Transporters Mark the Spot. Goberdhan DC, etal., Cell Metab. 2016 Apr 12;23(4):580-9. doi: 10.1016/j.cmet.2016.03.013.
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11230166   PMID:11256614   PMID:12203114   PMID:12477932   PMID:12607115   PMID:14702039   PMID:15105503   PMID:15489334   PMID:16344560   PMID:18692468   PMID:19113821   PMID:19377293  
PMID:21418191   PMID:21536039   PMID:21873635   PMID:21988832   PMID:22363791   PMID:22450766   PMID:22749810   PMID:22982090   PMID:23238567   PMID:23274085   PMID:23383273   PMID:23916134  
PMID:24046361   PMID:24453475   PMID:24825887   PMID:24838122   PMID:24947615   PMID:25024286   PMID:25040165   PMID:25263562   PMID:25378405   PMID:25457612   PMID:25572852   PMID:25692450  
PMID:25716320   PMID:25778901   PMID:25802279   PMID:25819761   PMID:25962159   PMID:26133704   PMID:26186194   PMID:26313705   PMID:26449471   PMID:26586190   PMID:26612684   PMID:26771712  
PMID:26913956   PMID:26972053   PMID:27010498   PMID:27171279   PMID:27337507   PMID:27463837   PMID:27567861   PMID:27649739   PMID:27705803   PMID:27840318   PMID:28065597   PMID:28118855  
PMID:28199306   PMID:28199315   PMID:28215577   PMID:28514442   PMID:28525387   PMID:28639842   PMID:28707664   PMID:28723563   PMID:29294217   PMID:29330382   PMID:29518770   PMID:30043734  
PMID:30099048   PMID:30145827   PMID:30258193   PMID:30311444   PMID:30387690   PMID:30770985   PMID:30909713   PMID:31000199   PMID:31059702   PMID:31073887   PMID:31091453   PMID:31173218  
PMID:31292858   PMID:31323261   PMID:31476315   PMID:31586034   PMID:31598652   PMID:31781313   PMID:31915252   PMID:31929511   PMID:32020222   PMID:32287270   PMID:32323727   PMID:32358171  
PMID:32407927   PMID:32423001   PMID:32513696   PMID:32626541   PMID:32670435   PMID:32694731   PMID:32854424   PMID:32859642   PMID:32888126   PMID:33048307   PMID:33080218   PMID:33198738  
PMID:33231566   PMID:33285232   PMID:33359262   PMID:33359748   PMID:33451752   PMID:33742100   PMID:33961781   PMID:34271014   PMID:34344352   PMID:34369648   PMID:34399004   PMID:34429398  
PMID:34803916   PMID:34979914   PMID:35008922   PMID:35114100   PMID:35195231   PMID:35821438   PMID:35831510   PMID:35881902   PMID:36040980   PMID:36066109   PMID:36215168   PMID:36346966  
PMID:36528027   PMID:36620877   PMID:36688959   PMID:36841824   PMID:36902310   PMID:36980973   PMID:37827155   PMID:37918578   PMID:38031041   PMID:38165565   PMID:38331008   PMID:38379215  
PMID:38780907   PMID:39388305   PMID:39443993   PMID:39501047  


Genomics

Comparative Map Data
SESN2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38128,259,518 - 28,282,491 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl128,259,518 - 28,282,491 (+)Ensemblhg38GRCh38
GRCh37128,586,029 - 28,609,002 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36128,458,593 - 28,481,589 (+)NCBIBuild 36Build 36hg18NCBI36
Build 34128,270,147 - 28,293,143NCBI
Celera126,981,763 - 27,004,758 (+)NCBICelera
Cytogenetic Map1p35.3NCBI
HuRef126,842,331 - 26,865,372 (+)NCBIHuRef
CHM1_1128,701,469 - 28,724,501 (+)NCBICHM1_1
T2T-CHM13v2.0128,101,353 - 28,124,325 (+)NCBIT2T-CHM13v2.0
Sesn2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394132,220,115 - 132,237,767 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl4132,219,343 - 132,237,812 (-)EnsemblGRCm39 EnsemblGRCm39
GRCm384132,492,804 - 132,510,456 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4132,492,032 - 132,510,501 (-)Ensemblmm10GRCm38
MGSCv374132,048,719 - 132,066,371 (-)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv364131,764,880 - 131,782,532 (-)NCBIMGSCv36mm8
Celera4130,652,973 - 130,670,713 (-)NCBICelera
Cytogenetic Map4D2.3NCBI
cM Map465.45NCBI
Sesn2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85149,986,304 - 150,005,255 (-)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl5149,986,317 - 150,005,255 (-)EnsemblGRCr8
mRatBN7.25144,702,287 - 144,721,241 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5144,701,530 - 144,721,260 (-)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx5147,402,085 - 147,420,950 (-)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.05149,171,647 - 149,190,510 (-)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.05149,160,251 - 149,179,202 (-)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.05150,684,891 - 150,703,846 (-)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5150,684,133 - 150,704,117 (-)Ensemblrn6Rnor6.0
Rnor_5.05154,351,297 - 154,370,252 (-)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.45152,639,951 - 152,655,828 (+)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera5143,128,904 - 143,147,855 (-)NCBICelera
Cytogenetic Map5q36NCBI
Sesn2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554527,393,007 - 7,417,304 (+)Ensembl
ChiLan1.0NW_0049554527,392,644 - 7,417,204 (+)NCBIChiLan1.0ChiLan1.0
SESN2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21198,572,508 - 198,596,064 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11197,689,417 - 197,712,997 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0127,518,248 - 27,541,264 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1128,555,072 - 28,577,931 (+)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl128,555,072 - 28,577,931 (+)EnsemblpanPan2panpan1.1
SESN2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1272,151,464 - 72,168,861 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl272,151,868 - 72,168,492 (-)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha268,729,379 - 68,746,724 (-)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.0272,711,672 - 72,729,070 (-)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl272,712,076 - 72,729,237 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1269,539,438 - 69,556,777 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0270,549,353 - 70,566,759 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0271,546,019 - 71,563,428 (-)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Sesn2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505846,591,898 - 46,611,063 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647412,416,652 - 12,436,814 (+)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_00493647412,416,652 - 12,436,799 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SESN2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl685,324,228 - 85,348,032 (+)EnsemblsusScr11Sscrofa11.1
Sscrofa11.1685,321,982 - 85,348,044 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2679,065,763 - 79,087,496 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SESN2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.120104,521,131 - 104,544,161 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl20104,521,132 - 104,544,001 (-)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_02366603311,936,607 - 11,959,826 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Sesn2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476412,087,858 - 12,120,914 (+)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_00462476412,087,901 - 12,135,145 (+)NCBIHetGla 1.0HetGla 1.0hetGla2

Variants

.
Variants in SESN2
55 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1p36.11-35.2(chr1:26963045-32279045)x3 copy number gain See cases [RCV000051801] Chr1:26963045..32279045 [GRCh38]
Chr1:27289536..32744646 [GRCh37]
Chr1:27162123..32517233 [NCBI36]
Chr1:1p36.11-35.2		 pathogenic
NM_031459.4(SESN2):c.757G>A (p.Glu253Lys) single nucleotide variant Malignant melanoma [RCV000064706] Chr1:28273364 [GRCh38]
Chr1:28599875 [GRCh37]
Chr1:28472462 [NCBI36]
Chr1:1p35.3		 not provided
GRCh38/hg38 1p35.3(chr1:27919199-28607226)x3 copy number gain See cases [RCV000137584] Chr1:27919199..28607226 [GRCh38]
Chr1:28245710..28933738 [GRCh37]
Chr1:28118297..28806325 [NCBI36]
Chr1:1p35.3		 uncertain significance
GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3 copy number gain See cases [RCV000138891] Chr1:24381206..41401517 [GRCh38]
Chr1:24707696..41886350 [GRCh37]
Chr1:24580283..41658937 [NCBI36]
Chr1:1p36.11-34.2		 pathogenic
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12		 likely benign
GRCh37/hg19 1p35.3(chr1:28292253-28969539)x3 copy number gain See cases [RCV000240431] Chr1:28292253..28969539 [GRCh37]
Chr1:1p35.3		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_031459.5(SESN2):c.215C>T (p.Ser72Phe) single nucleotide variant not specified [RCV004301115] Chr1:28271732 [GRCh38]
Chr1:28598243 [GRCh37]
Chr1:1p35.3		 uncertain significance
GRCh37/hg19 1p35.3(chr1:28517625-28633254)x1 copy number loss not provided [RCV000684558] Chr1:28517625..28633254 [GRCh37]
Chr1:1p35.3		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_031459.5(SESN2):c.259C>T (p.Pro87Ser) single nucleotide variant not provided [RCV000894666] Chr1:28271776 [GRCh38]
Chr1:28271776..28271777 [GRCh38]
Chr1:28598287 [GRCh37]
Chr1:28598287..28598288 [GRCh37]
Chr1:1p35.3		 benign
NM_031459.5(SESN2):c.958A>G (p.Thr320Ala) single nucleotide variant not provided [RCV000892007] Chr1:28274096 [GRCh38]
Chr1:28600607 [GRCh37]
Chr1:1p35.3		 benign
NM_031459.5(SESN2):c.901+5A>G single nucleotide variant not provided [RCV000905183] Chr1:28273513 [GRCh38]
Chr1:28600024 [GRCh37]
Chr1:1p35.3		 likely benign
NM_031459.5(SESN2):c.780G>A (p.Ala260=) single nucleotide variant not provided [RCV000894098] Chr1:28273387 [GRCh38]
Chr1:28599898 [GRCh37]
Chr1:1p35.3		 benign
NM_031459.5(SESN2):c.106C>T (p.Arg36Trp) single nucleotide variant not provided [RCV000894630] Chr1:28269198 [GRCh38]
Chr1:28595709 [GRCh37]
Chr1:1p35.3		 likely benign
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1		 uncertain significance
NM_031459.5(SESN2):c.834G>A (p.Thr278=) single nucleotide variant not provided [RCV000883658] Chr1:28273441 [GRCh38]
Chr1:28599952 [GRCh37]
Chr1:1p35.3		 benign
NM_031459.5(SESN2):c.201G>A (p.Leu67=) single nucleotide variant not provided [RCV000963751] Chr1:28271718 [GRCh38]
Chr1:28598229 [GRCh37]
Chr1:1p35.3		 benign
NM_031459.5(SESN2):c.843G>A (p.Glu281=) single nucleotide variant not provided [RCV000974831] Chr1:28273450 [GRCh38]
Chr1:28599961 [GRCh37]
Chr1:1p35.3		 benign
NM_031459.5(SESN2):c.1092T>C (p.Asp364=) single nucleotide variant not provided [RCV000974832] Chr1:28274896 [GRCh38]
Chr1:28601407 [GRCh37]
Chr1:1p35.3		 benign
NM_031459.5(SESN2):c.925C>T (p.His309Tyr) single nucleotide variant not provided [RCV000961268] Chr1:28274063 [GRCh38]
Chr1:28600574 [GRCh37]
Chr1:1p35.3		 benign
NM_031459.5(SESN2):c.901+8G>A single nucleotide variant not provided [RCV000911633] Chr1:28273516 [GRCh38]
Chr1:28600027 [GRCh37]
Chr1:1p35.3		 likely benign
GRCh37/hg19 1p35.3(chr1:28493687-29242679)x1 copy number loss not provided [RCV001836514] Chr1:28493687..29242679 [GRCh37]
Chr1:1p35.3		 uncertain significance
GRCh37/hg19 1p36.11-35.1(chr1:27543877-32819121) copy number gain not specified [RCV002052559] Chr1:27543877..32819121 [GRCh37]
Chr1:1p36.11-35.1		 uncertain significance
NM_031459.5(SESN2):c.76T>A (p.Ser26Thr) single nucleotide variant not specified [RCV004144059] Chr1:28259923 [GRCh38]
Chr1:28586434 [GRCh37]
Chr1:1p35.3		 uncertain significance
NM_031459.5(SESN2):c.7G>T (p.Val3Leu) single nucleotide variant not specified [RCV004149594] Chr1:28259854 [GRCh38]
Chr1:28586365 [GRCh37]
Chr1:1p35.3		 uncertain significance
NM_031459.5(SESN2):c.1021G>A (p.Asp341Asn) single nucleotide variant not specified [RCV004162508] Chr1:28274825 [GRCh38]
Chr1:28601336 [GRCh37]
Chr1:1p35.3		 uncertain significance
NM_031459.5(SESN2):c.1013G>A (p.Arg338Gln) single nucleotide variant not specified [RCV004084023] Chr1:28274151 [GRCh38]
Chr1:28600662 [GRCh37]
Chr1:1p35.3		 uncertain significance
NM_031459.5(SESN2):c.284G>C (p.Arg95Pro) single nucleotide variant not specified [RCV004207233] Chr1:28271801 [GRCh38]
Chr1:28598312 [GRCh37]
Chr1:1p35.3		 uncertain significance
NM_031459.5(SESN2):c.554G>C (p.Gly185Ala) single nucleotide variant not specified [RCV004220005] Chr1:28272597 [GRCh38]
Chr1:28599108 [GRCh37]
Chr1:1p35.3		 uncertain significance
NM_031459.5(SESN2):c.112C>G (p.Arg38Gly) single nucleotide variant not specified [RCV004203157] Chr1:28269204 [GRCh38]
Chr1:28595715 [GRCh37]
Chr1:1p35.3		 uncertain significance
NM_031459.5(SESN2):c.779C>T (p.Ala260Val) single nucleotide variant not specified [RCV004197127] Chr1:28273386 [GRCh38]
Chr1:28599897 [GRCh37]
Chr1:1p35.3		 uncertain significance
NM_031459.5(SESN2):c.1342C>T (p.Arg448Cys) single nucleotide variant not specified [RCV004074374] Chr1:28279227 [GRCh38]
Chr1:28605738 [GRCh37]
Chr1:1p35.3		 uncertain significance
NM_031459.5(SESN2):c.1322A>G (p.Asn441Ser) single nucleotide variant not specified [RCV004159847] Chr1:28279207 [GRCh38]
Chr1:28605718 [GRCh37]
Chr1:1p35.3		 uncertain significance
NM_031459.5(SESN2):c.1198G>A (p.Val400Ile) single nucleotide variant not specified [RCV004184138] Chr1:28275002 [GRCh38]
Chr1:28601513 [GRCh37]
Chr1:1p35.3		 uncertain significance
NM_031459.5(SESN2):c.1343G>A (p.Arg448His) single nucleotide variant not specified [RCV004206011] Chr1:28279228 [GRCh38]
Chr1:28605739 [GRCh37]
Chr1:1p35.3		 uncertain significance
NM_031459.5(SESN2):c.964G>A (p.Gly322Arg) single nucleotide variant not specified [RCV004179290] Chr1:28274102 [GRCh38]
Chr1:28600613 [GRCh37]
Chr1:1p35.3		 uncertain significance
NM_031459.5(SESN2):c.1435A>G (p.Met479Val) single nucleotide variant not specified [RCV004204782] Chr1:28280794 [GRCh38]
Chr1:28607305 [GRCh37]
Chr1:1p35.3		 uncertain significance
NM_031459.5(SESN2):c.820C>T (p.Arg274Trp) single nucleotide variant not specified [RCV004232582] Chr1:28273427 [GRCh38]
Chr1:28599938 [GRCh37]
Chr1:1p35.3		 uncertain significance
NM_031459.5(SESN2):c.745T>G (p.Ser249Ala) single nucleotide variant not specified [RCV004161520] Chr1:28272788 [GRCh38]
Chr1:28599299 [GRCh37]
Chr1:1p35.3		 uncertain significance
NM_031459.5(SESN2):c.481G>A (p.Glu161Lys) single nucleotide variant not specified [RCV004129881] Chr1:28272410 [GRCh38]
Chr1:28598921 [GRCh37]
Chr1:1p35.3		 uncertain significance
NM_031459.5(SESN2):c.1385C>T (p.Ala462Val) single nucleotide variant not specified [RCV004080854] Chr1:28280744 [GRCh38]
Chr1:28607255 [GRCh37]
Chr1:1p35.3		 uncertain significance
NM_031459.5(SESN2):c.76T>C (p.Ser26Pro) single nucleotide variant not specified [RCV004198022] Chr1:28259923 [GRCh38]
Chr1:28586434 [GRCh37]
Chr1:1p35.3		 likely benign
NM_031459.5(SESN2):c.29C>T (p.Ala10Val) single nucleotide variant not specified [RCV004106096] Chr1:28259876 [GRCh38]
Chr1:28586387 [GRCh37]
Chr1:1p35.3		 uncertain significance
NM_031459.5(SESN2):c.827A>C (p.Glu276Ala) single nucleotide variant not specified [RCV004270001] Chr1:28273434 [GRCh38]
Chr1:28599945 [GRCh37]
Chr1:1p35.3		 uncertain significance
NM_031459.5(SESN2):c.61G>T (p.Gly21Cys) single nucleotide variant not specified [RCV004288427] Chr1:28259908 [GRCh38]
Chr1:28586419 [GRCh37]
Chr1:1p35.3		 uncertain significance
NM_031459.5(SESN2):c.284G>A (p.Arg95His) single nucleotide variant not specified [RCV004250271] Chr1:28271801 [GRCh38]
Chr1:28598312 [GRCh37]
Chr1:1p35.3		 uncertain significance
NM_031459.5(SESN2):c.791G>A (p.Arg264His) single nucleotide variant not specified [RCV004265230] Chr1:28273398 [GRCh38]
Chr1:28599909 [GRCh37]
Chr1:1p35.3		 uncertain significance
NM_031459.5(SESN2):c.365G>A (p.Arg122His) single nucleotide variant not specified [RCV004347334] Chr1:28272294 [GRCh38]
Chr1:28598805 [GRCh37]
Chr1:1p35.3		 uncertain significance
NM_031459.5(SESN2):c.468G>A (p.Leu156=) single nucleotide variant not provided [RCV003413002] Chr1:28272397 [GRCh38]
Chr1:28598908 [GRCh37]
Chr1:1p35.3		 likely benign
GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3 copy number gain Trisomy 12p [RCV003447845] Chr1:99125..34026935 [GRCh38]
Chr1:1p36.33-35.1		 pathogenic
NM_031459.5(SESN2):c.113G>A (p.Arg38Gln) single nucleotide variant not specified [RCV004455430] Chr1:28269205 [GRCh38]
Chr1:28595716 [GRCh37]
Chr1:1p35.3		 uncertain significance
NM_031459.5(SESN2):c.1174G>T (p.Ala392Ser) single nucleotide variant not specified [RCV004455433] Chr1:28274978 [GRCh38]
Chr1:28601489 [GRCh37]
Chr1:1p35.3		 uncertain significance
NM_031459.5(SESN2):c.38A>C (p.Lys13Thr) single nucleotide variant not specified [RCV004455436] Chr1:28259885 [GRCh38]
Chr1:28586396 [GRCh37]
Chr1:1p35.3		 uncertain significance
NM_031459.5(SESN2):c.680C>T (p.Ala227Val) single nucleotide variant not specified [RCV004455437] Chr1:28272723 [GRCh38]
Chr1:28599234 [GRCh37]
Chr1:1p35.3		 uncertain significance
NM_031459.5(SESN2):c.995A>G (p.Gln332Arg) single nucleotide variant not specified [RCV004455439] Chr1:28274133 [GRCh38]
Chr1:28600644 [GRCh37]
Chr1:1p35.3		 uncertain significance
NM_031459.5(SESN2):c.1144A>C (p.Ser382Arg) single nucleotide variant not specified [RCV004455431] Chr1:28274948 [GRCh38]
Chr1:28601459 [GRCh37]
Chr1:1p35.3		 uncertain significance
NM_031459.5(SESN2):c.1148G>C (p.Gly383Ala) single nucleotide variant not specified [RCV004455432] Chr1:28274952 [GRCh38]
Chr1:28601463 [GRCh37]
Chr1:1p35.3		 uncertain significance
NM_031459.5(SESN2):c.128G>A (p.Gly43Glu) single nucleotide variant not specified [RCV004455434] Chr1:28269220 [GRCh38]
Chr1:28595731 [GRCh37]
Chr1:1p35.3		 uncertain significance
NM_031459.5(SESN2):c.943T>C (p.Phe315Leu) single nucleotide variant not specified [RCV004455438] Chr1:28274081 [GRCh38]
Chr1:28600592 [GRCh37]
Chr1:1p35.3		 uncertain significance
NM_031459.5(SESN2):c.997G>C (p.Ala333Pro) single nucleotide variant not specified [RCV004455440] Chr1:28274135 [GRCh38]
Chr1:28600646 [GRCh37]
Chr1:1p35.3		 uncertain significance
NM_031459.5(SESN2):c.1367A>G (p.Asn456Ser) single nucleotide variant not specified [RCV004667157] Chr1:28280726 [GRCh38]
Chr1:28607237 [GRCh37]
Chr1:1p35.3		 uncertain significance
NM_031459.5(SESN2):c.1162G>A (p.Val388Met) single nucleotide variant not specified [RCV004666040] Chr1:28274966 [GRCh38]
Chr1:28601477 [GRCh37]
Chr1:1p35.3		 likely benign
NM_031459.5(SESN2):c.479G>A (p.Ser160Asn) single nucleotide variant not specified [RCV004666041] Chr1:28272408 [GRCh38]
Chr1:28598919 [GRCh37]
Chr1:1p35.3		 uncertain significance
NM_031459.5(SESN2):c.712A>G (p.Ser238Gly) single nucleotide variant not specified [RCV004666042] Chr1:28272755 [GRCh38]
Chr1:28599266 [GRCh37]
Chr1:1p35.3		 uncertain significance
NM_031459.5(SESN2):c.767G>A (p.Arg256His) single nucleotide variant not specified [RCV004856359] Chr1:28273374 [GRCh38]
Chr1:28599885 [GRCh37]
Chr1:1p35.3		 uncertain significance
NM_031459.5(SESN2):c.62G>A (p.Gly21Asp) single nucleotide variant not specified [RCV004856360] Chr1:28259909 [GRCh38]
Chr1:28586420 [GRCh37]
Chr1:1p35.3		 uncertain significance
NM_031459.5(SESN2):c.334C>T (p.Arg112Cys) single nucleotide variant not specified [RCV005273530] Chr1:28271851 [GRCh38]
Chr1:28598362 [GRCh37]
Chr1:1p35.3		 uncertain significance
NM_031459.5(SESN2):c.389G>A (p.Gly130Asp) single nucleotide variant not specified [RCV005273534] Chr1:28272318 [GRCh38]
Chr1:28598829 [GRCh37]
Chr1:1p35.3		 uncertain significance
NM_031459.5(SESN2):c.1421C>T (p.Ala474Val) single nucleotide variant not specified [RCV005273533] Chr1:28280780 [GRCh38]
Chr1:28607291 [GRCh37]
Chr1:1p35.3		 uncertain significance
NM_031459.5(SESN2):c.1045T>A (p.Tyr349Asn) single nucleotide variant not specified [RCV005273537] Chr1:28274849 [GRCh38]
Chr1:28601360 [GRCh37]
Chr1:1p35.3		 uncertain significance
NM_031459.5(SESN2):c.397A>G (p.Met133Val) single nucleotide variant not specified [RCV005273532] Chr1:28272326 [GRCh38]
Chr1:28598837 [GRCh37]
Chr1:1p35.3		 uncertain significance
NM_031459.5(SESN2):c.767G>T (p.Arg256Leu) single nucleotide variant not specified [RCV005273531] Chr1:28273374 [GRCh38]
Chr1:28599885 [GRCh37]
Chr1:1p35.3		 uncertain significance
NM_031459.5(SESN2):c.137C>T (p.Ala46Val) single nucleotide variant not specified [RCV005273536] Chr1:28269229 [GRCh38]
Chr1:28595740 [GRCh37]
Chr1:1p35.3		 uncertain significance
NM_031459.5(SESN2):c.790C>T (p.Arg264Cys) single nucleotide variant not specified [RCV005273529] Chr1:28273397 [GRCh38]
Chr1:28599908 [GRCh37]
Chr1:1p35.3		 uncertain significance
NM_031459.5(SESN2):c.1112A>G (p.Tyr371Cys) single nucleotide variant not specified [RCV005273538] Chr1:28274916 [GRCh38]
Chr1:28601427 [GRCh37]
Chr1:1p35.3		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:1075
Count of miRNA genes:681
Interacting mature miRNAs:764
Transcripts:ENST00000253063
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1576329MYI9_HMyocardial infarction susceptibility QTL 9 (human)12Myocardial infarction susceptibilityearly-onset1758550333585503Human
597349214GWAS1445288_Hurate measurement QTL GWAS1445288 (human)1e-08urate measurementblood uric acid level (CMO:0000501)12827177628271777Human
597143072GWAS1239146_Hhigh density lipoprotein cholesterol measurement QTL GWAS1239146 (human)0.0000009blood HDL cholesterol amount (VT:0000184)blood high density lipoprotein cholesterol level (CMO:0000052)12827177628271777Human
597207043GWAS1303117_Hurate measurement QTL GWAS1303117 (human)1e-09urate measurementblood uric acid level (CMO:0000501)12827177628271777Human
597117180GWAS1213254_Huric acid measurement QTL GWAS1213254 (human)8e-09blood uric acid amount (VT:0010302)blood uric acid level (CMO:0000501)12827177628271777Human
597160795GWAS1256869_Huric acid measurement QTL GWAS1256869 (human)9e-11blood uric acid amount (VT:0010302)blood uric acid level (CMO:0000501)12827177628271777Human
1576325MYI1_HMyocardial infarction susceptibility QTL 1 (human)11.681e-12Myocardial infarction susceptibilityearly-onset1758550333585503Human
1643380BW316_HBody weight QTL 316 (human)2.620.0002Body weightBMI1758550333585503Human

Markers in Region
D1S1445  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37128,598,623 - 28,598,873UniSTSGRCh37
Build 36128,471,210 - 28,471,460RGDNCBI36
Celera126,994,380 - 26,994,630RGD
Cytogenetic Map1p35.3UniSTS
HuRef126,854,993 - 26,855,243UniSTS
D1S1786E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37128,607,783 - 28,607,912UniSTSGRCh37
Build 36128,480,370 - 28,480,499RGDNCBI36
Celera127,003,539 - 27,003,668RGD
Cytogenetic Map1p35.3UniSTS
HuRef126,864,153 - 26,864,282UniSTS
GeneMap99-GB4 RH Map195.57UniSTS
D1S2365  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37128,607,782 - 28,607,961UniSTSGRCh37
Build 36128,480,369 - 28,480,548RGDNCBI36
Celera127,003,538 - 27,003,717RGD
Cytogenetic Map1p35.3UniSTS
HuRef126,864,152 - 26,864,331UniSTS
TNG Radiation Hybrid Map113575.0UniSTS
GeneMap99-GB4 RH Map192.86UniSTS
GeneMap99-GB4 RH Map192.73UniSTS
Whitehead-RH Map191.7UniSTS
Whitehead-YAC Contig Map1 UniSTS
NCBI RH Map1142.5UniSTS
SHGC-74473  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37128,607,976 - 28,608,244UniSTSGRCh37
Build 36128,480,563 - 28,480,831RGDNCBI36
Celera127,003,732 - 27,004,000RGD
Cytogenetic Map1p35.3UniSTS
HuRef126,864,346 - 26,864,614UniSTS
TNG Radiation Hybrid Map113575.0UniSTS
GeneMap99-GB4 RH Map192.86UniSTS
NCBI RH Map1142.5UniSTS
A001Z14  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37128,608,743 - 28,608,892UniSTSGRCh37
Build 36128,481,330 - 28,481,479RGDNCBI36
Celera127,004,499 - 27,004,648RGD
Cytogenetic Map1p35.3UniSTS
HuRef126,865,113 - 26,865,262UniSTS
TNG Radiation Hybrid Map113579.0UniSTS
GeneMap99-GB4 RH Map195.4UniSTS
NCBI RH Map1142.5UniSTS
D1S1788E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37128,608,888 - 28,608,960UniSTSGRCh37
Build 36128,481,475 - 28,481,547RGDNCBI36
Celera127,004,644 - 27,004,716RGD
Cytogenetic Map1p35.3UniSTS
HuRef126,865,258 - 26,865,330UniSTS
GeneMap99-GB4 RH Map195.57UniSTS
RH12617  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37128,608,824 - 28,608,951UniSTSGRCh37
Build 36128,481,411 - 28,481,538RGDNCBI36
Celera127,004,580 - 27,004,707RGD
Cytogenetic Map1p35.3UniSTS
HuRef126,865,194 - 26,865,321UniSTS
GeneMap99-GB4 RH Map195.57UniSTS
NCBI RH Map1142.5UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4973 1726 2351 6 624 1950 465 2269 7305 6471 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_031459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_946773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK025640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL353622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY123223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY538253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI912024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB094914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000253063   ⟹   ENSP00000253063
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl128,259,518 - 28,282,491 (+)Ensembl
RefSeq Acc Id: NM_031459   ⟹   NP_113647
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38128,259,518 - 28,282,491 (+)NCBI
GRCh37128,585,963 - 28,609,002 (+)ENTREZGENE
Build 36128,458,593 - 28,481,589 (+)NCBI Archive
Celera126,981,763 - 27,004,758 (+)RGD
HuRef126,842,331 - 26,865,372 (+)ENTREZGENE
CHM1_1128,701,469 - 28,724,501 (+)NCBI
T2T-CHM13v2.0128,101,353 - 28,124,325 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047431519   ⟹   XP_047287475
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38128,259,518 - 28,275,015 (+)NCBI
RefSeq Acc Id: XM_054338981   ⟹   XP_054194956
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0128,101,353 - 28,116,850 (+)NCBI
RefSeq Acc Id: NP_113647   ⟸   NM_031459
- UniProtKB: Q5T7D0 (UniProtKB/Swiss-Prot),   Q96SI5 (UniProtKB/Swiss-Prot),   P58004 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000253063   ⟸   ENST00000253063
RefSeq Acc Id: XP_047287475   ⟸   XM_047431519
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054194956   ⟸   XM_054338981
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P58004-F1-model_v2 AlphaFold P58004 1-480 view protein structure

Promoters
RGD ID:6854726
Promoter ID:EPDNEW_H528
Type:initiation region
Name:SESN2_1
Description:sestrin 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38128,259,524 - 28,259,584EPDNEW
RGD ID:6786829
Promoter ID:HG_KWN:1627
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:NM_031459
Position:
Human AssemblyChrPosition (strand)Source
Build 36128,458,411 - 28,458,911 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:20746 AgrOrtholog
COSMIC SESN2 COSMIC
Ensembl Genes ENSG00000130766 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000285069 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000253063 ENTREZGENE
  ENST00000253063.4 UniProtKB/Swiss-Prot
  ENST00000645231.2 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.1290.10 UniProtKB/Swiss-Prot
GTEx ENSG00000130766 GTEx
  ENSG00000285069 GTEx
HGNC ID HGNC:20746 ENTREZGENE
Human Proteome Map SESN2 Human Proteome Map
InterPro AhpD-like UniProtKB/Swiss-Prot
  Sestrin UniProtKB/Swiss-Prot
KEGG Report hsa:83667 UniProtKB/Swiss-Prot
NCBI Gene 83667 ENTREZGENE
OMIM 607767 OMIM
PANTHER PTHR12474 UniProtKB/Swiss-Prot
  SESTRIN-2 UniProtKB/Swiss-Prot
Pfam PA26 UniProtKB/Swiss-Prot
PharmGKB PA134882791 PharmGKB
Superfamily-SCOP SSF69118 UniProtKB/Swiss-Prot
UniProt P58004 ENTREZGENE
  Q5T7D0 ENTREZGENE
  Q96SI5 ENTREZGENE
  SESN2_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q5T7D0 UniProtKB/Swiss-Prot
  Q96SI5 UniProtKB/Swiss-Prot