NT5E (5'-nucleotidase ecto) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: NT5E (5'-nucleotidase ecto) Homo sapiens
Analyze
Symbol: NT5E
Name: 5'-nucleotidase ecto
RGD ID: 734028
HGNC Page HGNC:8021
Description: Enables several functions, including 5'-deoxynucleotidase activity; 5'-nucleotidase activity; and zinc ion binding activity. Involved in ATP metabolic process; leukocyte cell-cell adhesion; and response to ATP. Located in cytosol; membrane; and nucleoplasm. Is active in plasma membrane. Implicated in hereditary arterial and articular multiple calcification syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 5 nucleotidase; 5' nucleotidase (CD73); 5'-deoxynucleotidase; 5'-NT; 5'-nucleotidase; 5'-nucleotidase, ecto (CD73); CALJA; CD73; E5NT; ecto-5'-nucleotidase; eN; eNT; IMP-specific 5'-nucleotidase; NT; NT5; NTE; Purine 5-Prime-Nucleotidase; thymidylate 5'-phosphatase
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
GRCh38685,450,083 - 85,495,784 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl685,449,584 - 85,495,791 (+)EnsemblGRCh38hg38GRCh38
GRCh37686,159,801 - 86,205,502 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36686,216,528 - 86,262,215 (+)NCBINCBI36Build 36hg18NCBI36
Build 34686,216,527 - 86,262,215NCBI
Celera686,586,482 - 86,632,679 (+)NCBICelera
Cytogenetic Map6q14.3NCBI
HuRef683,383,590 - 83,429,793 (+)NCBIHuRef
CHM1_1686,257,244 - 86,303,451 (+)NCBICHM1_1
T2T-CHM13v2.0686,666,882 - 86,712,587 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(-)-demecolcine  (EXP)
(1->4)-beta-D-glucan  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-nitropyrene  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,4-dinitrobenzenesulfonic acid  (ISO)
2-palmitoylglycerol  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3,3',5-triiodo-L-thyronine  (ISO)
3,4-dichloroaniline  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
3-chloropropane-1,2-diol  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
5-azacytidine  (EXP)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
adenosine  (ISO)
ADP  (EXP)
aflatoxin B1  (ISO)
all-trans-retinoic acid  (EXP)
antimycin A  (ISO)
aripiprazole  (EXP)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
beta-naphthoflavone  (EXP)
betalain  (ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol AF  (EXP)
Bisphenol B  (EXP)
bisphenol F  (EXP,ISO)
bortezomib  (EXP)
bucladesine  (EXP)
buspirone  (ISO)
cadmium dichloride  (EXP)
caffeine  (ISO)
cannabidiol  (EXP)
carbon nanotube  (ISO)
cerium trichloride  (ISO)
chloropicrin  (EXP)
choline  (ISO)
chromium(6+)  (EXP)
ciguatoxin CTX1B  (ISO)
cis-caffeic acid  (ISO)
cobalt dichloride  (EXP,ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) chloride  (EXP)
coumestrol  (EXP)
crocidolite asbestos  (EXP,ISO)
Cuprizon  (ISO)
cyclosporin A  (EXP)
deguelin  (EXP)
dexamethasone  (ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
diclofenac  (ISO)
dicrotophos  (EXP)
dimethylarsinic acid  (ISO)
dioxygen  (EXP,ISO)
disulfiram  (EXP)
diuron  (EXP,ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
endosulfan  (ISO)
Enterolactone  (EXP)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
furan  (ISO)
genistein  (EXP,ISO)
gentamycin  (ISO)
glafenine  (ISO)
homocysteine  (ISO)
hydrogen cyanide  (ISO)
indometacin  (EXP,ISO)
ivermectin  (EXP)
L-methionine  (ISO)
lead diacetate  (EXP)
lipopolysaccharide  (EXP)
medroxyprogesterone acetate  (EXP)
mercury dibromide  (EXP)
mercury dichloride  (ISO)
methapyrilene  (ISO)
methylarsonic acid  (ISO)
methylisothiazolinone  (EXP)
N-nitrosodiethylamine  (ISO)
nefazodone  (ISO)
nickel atom  (EXP)
nimesulide  (ISO)
nitrites  (ISO)
oxaliplatin  (ISO)
ozone  (EXP,ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (EXP,ISO)
potassium chromate  (EXP)
potassium cyanide  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP,ISO)
quercetin  (EXP,ISO)
rotenone  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
silicon dioxide  (ISO)
sodium arsenate  (EXP,ISO)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
sotorasib  (EXP)
streptozocin  (ISO)
temozolomide  (EXP)
tenofovir disoproxil fumarate  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
thalidomide  (ISO)
thioacetamide  (ISO)
thiram  (EXP)
trametinib  (EXP)
trans-caffeic acid  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (EXP)
triptonide  (ISO)
tris(2-butoxyethyl) phosphate  (EXP)
troglitazone  (ISO)
uranium atom  (EXP)
valproic acid  (EXP)
vincristine  (EXP)
withaferin A  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

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

References - curated
# Reference Title Reference Citation
1. Evidence for the involvement of cytosolic 5'-nucleotidase (cN-II) in the synthesis of guanine nucleotides from xanthosine. Barsotti C, etal., J Biol Chem. 2005 Apr 8;280(14):13465-9. Epub 2005 Feb 6.
2. Dynamic changes in the expression pattern of ecto-5'-nucleotidase in the rat model of cortical stab injury. Bjelobaba I, etal., J Neurosci Res. 2011 Jun;89(6):862-73. doi: 10.1002/jnr.22599. Epub 2011 Feb 17.
3. Ontogenetic profile of ectonucleotidase activities from brain synaptosomes of pilocarpine-treated rats. de Paula Cognato G, etal., Int J Dev Neurosci. 2005 Dec;23(8):703-9. Epub 2005 Nov 4.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
6. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
7. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
8. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
9. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
10. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
11. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
12. Ectonucleotidase and acetylcholinesterase activities in synaptosomes from the cerebral cortex of streptozotocin-induced diabetic rats and treated with resveratrol. Schmatz R, etal., Brain Res Bull. 2009 Dec 16;80(6):371-6. Epub 2009 Aug 31.
Additional References at PubMed
PMID:819433   PMID:2129526   PMID:2137649   PMID:2173922   PMID:2848759   PMID:3036115   PMID:7595232   PMID:8000038   PMID:8566797   PMID:8781432   PMID:9015312   PMID:9113412  
PMID:9169488   PMID:9238677   PMID:9361795   PMID:9553767   PMID:9651114   PMID:10470109   PMID:10570953   PMID:10898423   PMID:11004484   PMID:11046060   PMID:11067892   PMID:11149913  
PMID:11163406   PMID:12000134   PMID:12030367   PMID:12170585   PMID:12477932   PMID:12774669   PMID:12892649   PMID:14578500   PMID:16303743   PMID:16344560   PMID:16709165   PMID:16718268  
PMID:16735966   PMID:17065075   PMID:17487388   PMID:17671792   PMID:17911479   PMID:18029348   PMID:18062933   PMID:18566412   PMID:18636315   PMID:18787389   PMID:18924612   PMID:19008478  
PMID:19056867   PMID:19536092   PMID:19581412   PMID:19956800   PMID:20392501   PMID:20458337   PMID:20476579   PMID:20628624   PMID:20874842   PMID:20977463   PMID:21057730   PMID:21092450  
PMID:21280222   PMID:21288095   PMID:21346249   PMID:21362503   PMID:21638125   PMID:21677139   PMID:21732280   PMID:21873635   PMID:21886157   PMID:21933152   PMID:21998208   PMID:22040959  
PMID:22184407   PMID:22287455   PMID:22454080   PMID:22553809   PMID:22833450   PMID:22939629   PMID:22997138   PMID:23094051   PMID:23122642   PMID:23142347   PMID:23192044   PMID:23288168  
PMID:23315321   PMID:23333304   PMID:23423261   PMID:23508889   PMID:23533145   PMID:23569336   PMID:23584256   PMID:23625284   PMID:23653114   PMID:23729294   PMID:23737488   PMID:23880765  
PMID:24043462   PMID:24310606   PMID:24707115   PMID:24798880   PMID:24816252   PMID:24887587   PMID:25205101   PMID:25298403   PMID:25402681   PMID:25486201   PMID:25644539   PMID:25675814  
PMID:25677906   PMID:25770019   PMID:26040919   PMID:26178434   PMID:26186194   PMID:26226423   PMID:26253870   PMID:26258883   PMID:26363007   PMID:26629888   PMID:26642367   PMID:26691441  
PMID:26708311   PMID:26854859   PMID:26884147   PMID:27044834   PMID:27281619   PMID:27377895   PMID:27557512   PMID:27650530   PMID:27670764   PMID:27684187   PMID:27705752   PMID:27718302  
PMID:27732656   PMID:27899277   PMID:27906615   PMID:27906627   PMID:28060732   PMID:28158983   PMID:28193736   PMID:28202050   PMID:28212442   PMID:28389406   PMID:28404888   PMID:28464916  
PMID:28514442   PMID:28592560   PMID:28652244   PMID:28825389   PMID:28916770   PMID:28947420   PMID:28950987   PMID:29047106   PMID:29103803   PMID:29155108   PMID:29202855   PMID:29273916  
PMID:29278640   PMID:29305710   PMID:29367423   PMID:29377887   PMID:29509190   PMID:29514610   PMID:29551673   PMID:29568061   PMID:29663369   PMID:29916747   PMID:30056298   PMID:30089695  
PMID:30097462   PMID:30097533   PMID:30100409   PMID:30117104   PMID:30184475   PMID:30211969   PMID:30281919   PMID:30295112   PMID:30301599   PMID:30409763   PMID:30417547   PMID:30548323  
PMID:30591485   PMID:30663116   PMID:30664812   PMID:30676071   PMID:30696359   PMID:30927045   PMID:30932882   PMID:30954629   PMID:30957676   PMID:30971294   PMID:30985656   PMID:30992388  
PMID:31014364   PMID:31280863   PMID:31309149   PMID:31404305   PMID:31461341   PMID:31527615   PMID:31586073   PMID:31652269   PMID:31672844   PMID:31770109   PMID:31868071   PMID:31873309  
PMID:31879272   PMID:31980601   PMID:32017200   PMID:32024555   PMID:32067282   PMID:32205841   PMID:32266820   PMID:32289379   PMID:32296183   PMID:32345959   PMID:32362028   PMID:32375544  
PMID:32401115   PMID:32419582   PMID:32446352   PMID:32450615   PMID:32473077   PMID:32522903   PMID:32548862   PMID:32585229   PMID:32590342   PMID:32643277   PMID:32676968   PMID:32707842  
PMID:32777746   PMID:32780723   PMID:32847938   PMID:32970317   PMID:32970335   PMID:33037085   PMID:33177176   PMID:33194618   PMID:33222670   PMID:33268695   PMID:33416944   PMID:33433704  
PMID:33434633   PMID:33609609   PMID:33660365   PMID:33727591   PMID:33744914   PMID:33788714   PMID:33961781   PMID:34019179   PMID:34031899   PMID:34097876   PMID:34265363   PMID:34299260  
PMID:34302921   PMID:34403084   PMID:34508993   PMID:34526098   PMID:34610532   PMID:34637682   PMID:34650224   PMID:34741235   PMID:34831141   PMID:34961895   PMID:35013218   PMID:35163489  
PMID:35199627   PMID:35227662   PMID:35235138   PMID:35273100   PMID:35325005   PMID:35485681   PMID:35568845   PMID:35598361   PMID:35622118   PMID:35657703   PMID:35941108   PMID:35997119  
PMID:36048381   PMID:36091055   PMID:36131912   PMID:36168628   PMID:36215168   PMID:36314527   PMID:36608132   PMID:36628293   PMID:36720042   PMID:36776866   PMID:36778123   PMID:36870289  
PMID:36899373   PMID:36958430   PMID:37055675   PMID:37059175   PMID:37261423   PMID:37402102   PMID:37511518   PMID:37517292   PMID:37620936   PMID:37851808   PMID:37874500   PMID:37910505  
PMID:38227654   PMID:38245532   PMID:38266969   PMID:38275742   PMID:38941889   PMID:38978304   PMID:39090604   PMID:39423241   PMID:39499777  


Genomics

Comparative Map Data
NT5E
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38685,450,083 - 85,495,784 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl685,449,584 - 85,495,791 (+)EnsemblGRCh38hg38GRCh38
GRCh37686,159,801 - 86,205,502 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36686,216,528 - 86,262,215 (+)NCBINCBI36Build 36hg18NCBI36
Build 34686,216,527 - 86,262,215NCBI
Celera686,586,482 - 86,632,679 (+)NCBICelera
Cytogenetic Map6q14.3NCBI
HuRef683,383,590 - 83,429,793 (+)NCBIHuRef
CHM1_1686,257,244 - 86,303,451 (+)NCBICHM1_1
T2T-CHM13v2.0686,666,882 - 86,712,587 (+)NCBIT2T-CHM13v2.0
Nt5e
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39988,209,662 - 88,254,142 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl988,209,250 - 88,254,145 (+)EnsemblGRCm39 Ensembl
GRCm38988,327,609 - 88,372,089 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl988,327,197 - 88,372,092 (+)EnsemblGRCm38mm10GRCm38
MGSCv37988,222,447 - 88,266,927 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36988,125,533 - 88,169,982 (+)NCBIMGSCv36mm8
Celera985,354,734 - 85,399,137 (+)NCBICelera
Cytogenetic Map9E3.1NCBI
cM Map947.24NCBI
Nt5e
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8898,150,925 - 98,195,646 (+)NCBIGRCr8
mRatBN7.2889,271,046 - 89,314,918 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl889,270,696 - 89,314,881 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx894,940,630 - 94,984,431 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0893,139,844 - 93,183,642 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0890,998,970 - 91,042,930 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0895,969,002 - 96,012,733 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl895,968,652 - 96,012,696 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0895,464,591 - 95,508,322 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4893,591,630 - 93,635,481 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1893,610,734 - 93,654,911 (+)NCBI
Celera888,841,425 - 88,885,302 (+)NCBICelera
Cytogenetic Map8q31NCBI
Nt5e
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541112,891,236 - 12,948,406 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541112,891,236 - 12,946,324 (+)NCBIChiLan1.0ChiLan1.0
NT5E
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v25105,532,410 - 105,584,140 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan16103,429,147 - 103,478,675 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0683,333,428 - 83,379,585 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1686,615,409 - 86,661,594 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl686,615,409 - 86,661,601 (+)Ensemblpanpan1.1panPan2
NT5E
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11245,491,028 - 45,520,019 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1245,491,733 - 45,518,405 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1245,289,507 - 45,334,783 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01246,244,000 - 46,289,219 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1246,243,992 - 46,289,217 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11245,577,415 - 45,622,655 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01245,506,318 - 45,551,536 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01245,693,314 - 45,738,560 (+)NCBIUU_Cfam_GSD_1.0
Nt5e
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494680,624,771 - 80,673,677 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365105,797,212 - 5,846,124 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365105,797,218 - 5,846,118 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NT5E
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl154,400,810 - 54,448,742 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1154,400,786 - 54,450,743 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2160,831,831 - 60,881,527 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NT5E
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11310,115,591 - 10,162,178 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1310,116,161 - 10,160,414 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666040186,303,608 - 186,348,855 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nt5e
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247998,765,711 - 8,845,778 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247998,766,608 - 8,845,296 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NT5E
72 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002526.4(NT5E):c.1608dup (p.Val537fs) duplication Hereditary arterial and articular multiple calcification syndrome [RCV000022535]|NT5E-related disorder [RCV004549385] Chr6:85493884..85493885 [GRCh38]
Chr6:86203602..86203603 [GRCh37]
Chr6:6q14.3		 pathogenic|likely pathogenic
NM_002526.4(NT5E):c.662C>A (p.Ser221Ter) single nucleotide variant Hereditary arterial and articular multiple calcification syndrome [RCV000022533] Chr6:85471336 [GRCh38]
Chr6:86181054 [GRCh37]
Chr6:6q14.3		 pathogenic
NM_002526.4(NT5E):c.1073G>A (p.Cys358Tyr) single nucleotide variant Hereditary arterial and articular multiple calcification syndrome [RCV000022534] Chr6:85487458 [GRCh38]
Chr6:86197176 [GRCh37]
Chr6:6q14.3		 pathogenic
GRCh38/hg38 6q14.1-16.1(chr6:82569098-93753476)x1 copy number loss See cases [RCV000052192] Chr6:82569098..93753476 [GRCh38]
Chr6:83278815..94463194 [GRCh37]
Chr6:83335534..94519915 [NCBI36]
Chr6:6q14.1-16.1		 pathogenic
GRCh38/hg38 6q14.2-16.1(chr6:83838303-98822313)x1 copy number loss See cases [RCV000135773] Chr6:83838303..98822313 [GRCh38]
Chr6:84548022..99270189 [GRCh37]
Chr6:84604741..99376910 [NCBI36]
Chr6:6q14.2-16.1		 pathogenic
GRCh38/hg38 6q14.3-15(chr6:85370716-90669793)x1 copy number loss See cases [RCV000136757] Chr6:85370716..90669793 [GRCh38]
Chr6:86080434..91379512 [GRCh37]
Chr6:86137153..91436233 [NCBI36]
Chr6:6q14.3-15		 pathogenic
GRCh38/hg38 6q14.3-15(chr6:84926864-87365441)x1 copy number loss See cases [RCV000137766] Chr6:84926864..87365441 [GRCh38]
Chr6:85636582..88075159 [GRCh37]
Chr6:85693301..88131878 [NCBI36]
Chr6:6q14.3-15		 likely pathogenic
GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3 copy number gain See cases [RCV000139729] Chr6:74382807..142040500 [GRCh38]
Chr6:75092523..142361637 [GRCh37]
Chr6:75149243..142403330 [NCBI36]
Chr6:6q13-24.1		 pathogenic
GRCh38/hg38 6q14.1-16.1(chr6:75926199-92710793)x1 copy number loss See cases [RCV000143505] Chr6:75926199..92710793 [GRCh38]
Chr6:76635916..93420511 [GRCh37]
Chr6:76692636..93477232 [NCBI36]
Chr6:6q14.1-16.1		 pathogenic
GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)x1 copy number loss See cases [RCV000445666] Chr6:85988428..120548687 [GRCh37]
Chr6:6q14.3-22.31		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6q14.3(chr6:85770403-87222520)x3 copy number gain See cases [RCV000510653] Chr6:85770403..87222520 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_002526.4(NT5E):c.1253G>A (p.Gly418Glu) single nucleotide variant Inborn genetic diseases [RCV003299278] Chr6:85490550 [GRCh38]
Chr6:86200268 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_002526.4(NT5E):c.1661G>A (p.Cys554Tyr) single nucleotide variant Inborn genetic diseases [RCV003291512] Chr6:85493940 [GRCh38]
Chr6:86203658 [GRCh37]
Chr6:6q14.3		 uncertain significance
GRCh37/hg19 6q14.1-16.1(chr6:81261418-97796269)x3 copy number gain not provided [RCV000682688] Chr6:81261418..97796269 [GRCh37]
Chr6:6q14.1-16.1		 pathogenic
GRCh37/hg19 6q14.3(chr6:86066198-86195452)x1 copy number loss not provided [RCV000682691] Chr6:86066198..86195452 [GRCh37]
Chr6:6q14.3		 likely benign
Single allele deletion not provided [RCV000677932] Chr6:83319012..91907669 [GRCh37]
Chr6:6q14.1-15		 pathogenic
NM_002526.4(NT5E):c.1126A>G (p.Thr376Ala) single nucleotide variant Hereditary arterial and articular multiple calcification syndrome [RCV001788579]|not specified [RCV001530115] Chr6:85489515 [GRCh38]
Chr6:86199233 [GRCh37]
Chr6:6q14.3		 benign
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
NM_002526.4(NT5E):c.76G>T (p.Ala26Ser) single nucleotide variant NT5E-related disorder [RCV004551723]|not provided [RCV000901605] Chr6:85450215 [GRCh38]
Chr6:86159933 [GRCh37]
Chr6:6q14.3		 likely benign
NM_002526.4(NT5E):c.1368T>C (p.His456=) single nucleotide variant not provided [RCV000924919] Chr6:85491984 [GRCh38]
Chr6:86201702 [GRCh37]
Chr6:6q14.3		 likely benign
NM_002526.4(NT5E):c.832G>A (p.Val278Ile) single nucleotide variant Hereditary arterial and articular multiple calcification syndrome [RCV003132129]|NT5E-related disorder [RCV004553455]|not provided [RCV000964415] Chr6:85485315 [GRCh38]
Chr6:86195033 [GRCh37]
Chr6:6q14.3		 likely benign|uncertain significance
NM_002526.4(NT5E):c.1588A>G (p.Thr530Ala) single nucleotide variant not provided [RCV000903752] Chr6:85493867 [GRCh38]
Chr6:86203585 [GRCh37]
Chr6:6q14.3		 benign
GRCh37/hg19 6q14.3-15(chr6:86024761-90023713)x1 copy number loss not provided [RCV001005826] Chr6:86024761..90023713 [GRCh37]
Chr6:6q14.3-15		 pathogenic
NM_002526.4(NT5E):c.966A>G (p.Ala322=) single nucleotide variant not provided [RCV000925114] Chr6:85487351 [GRCh38]
Chr6:86197069 [GRCh37]
Chr6:6q14.3		 likely benign
NM_002526.4(NT5E):c.1439G>T (p.Arg480Leu) single nucleotide variant Inborn genetic diseases [RCV003255466] Chr6:85492055 [GRCh38]
Chr6:86201773 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_002526.4(NT5E):c.778G>C (p.Ala260Pro) single nucleotide variant Inborn genetic diseases [RCV003277894] Chr6:85485261 [GRCh38]
Chr6:86194979 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_002526.4(NT5E):c.569A>C (p.Asn190Thr) single nucleotide variant Inborn genetic diseases [RCV003266698] Chr6:85471243 [GRCh38]
Chr6:86180961 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_002526.4(NT5E):c.42C>T (p.Leu14=) single nucleotide variant not provided [RCV000922534] Chr6:85450181 [GRCh38]
Chr6:86159899 [GRCh37]
Chr6:6q14.3		 benign
NM_002526.4(NT5E):c.342A>G (p.Ala114=) single nucleotide variant not provided [RCV000965018] Chr6:85467062 [GRCh38]
Chr6:86176780 [GRCh37]
Chr6:6q14.3		 benign
NM_002526.4(NT5E):c.924T>C (p.Ile308=) single nucleotide variant not provided [RCV000932049] Chr6:85485407 [GRCh38]
Chr6:86195125 [GRCh37]
Chr6:6q14.3		 likely benign
NM_002526.4(NT5E):c.1207A>C (p.Asn403His) single nucleotide variant NT5E-related disorder [RCV004551805]|not provided [RCV000914306] Chr6:85489596 [GRCh38]
Chr6:86199314 [GRCh37]
Chr6:6q14.3		 benign|likely benign
GRCh37/hg19 6q14.3(chr6:86155642-86252892)x1 copy number loss not provided [RCV000849417] Chr6:86155642..86252892 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_002526.4(NT5E):c.444G>A (p.Gly148=) single nucleotide variant not provided [RCV000932286] Chr6:85467164 [GRCh38]
Chr6:86176882 [GRCh37]
Chr6:6q14.3		 likely benign
NM_002526.4(NT5E):c.1539T>C (p.Asp513=) single nucleotide variant not provided [RCV000910998] Chr6:85492155 [GRCh38]
Chr6:86201873 [GRCh37]
Chr6:6q14.3		 likely benign
NM_002526.4(NT5E):c.1221C>G (p.Thr407=) single nucleotide variant not provided [RCV000974552] Chr6:85490518 [GRCh38]
Chr6:86200236 [GRCh37]
Chr6:6q14.3		 benign
NM_002526.4(NT5E):c.457C>G (p.Gln153Glu) single nucleotide variant NT5E-related disorder [RCV004553363]|not provided [RCV000938678] Chr6:85467177 [GRCh38]
Chr6:86176895 [GRCh37]
Chr6:6q14.3		 benign|likely benign
NM_002526.4(NT5E):c.897C>T (p.Asn299=) single nucleotide variant not provided [RCV000954101] Chr6:85485380 [GRCh38]
Chr6:86195098 [GRCh37]
Chr6:6q14.3		 benign
GRCh37/hg19 6q14.3(chr6:85852930-86514050)x4 copy number gain Intellectual disability [RCV001250264] Chr6:85852930..86514050 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_002526.4(NT5E):c.528C>T (p.Tyr176=) single nucleotide variant not provided [RCV000890101] Chr6:85467248 [GRCh38]
Chr6:86176966 [GRCh37]
Chr6:6q14.3		 benign
NM_002526.4(NT5E):c.1055C>A (p.Ser352Ter) single nucleotide variant Calcification of joints and arteries [RCV001335042] Chr6:85487440 [GRCh38]
Chr6:86197158 [GRCh37]
Chr6:6q14.3		 pathogenic
NM_002526.4(NT5E):c.1271T>G (p.Val424Gly) single nucleotide variant not provided [RCV001794603] Chr6:85490568 [GRCh38]
Chr6:86200286 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_002526.4(NT5E):c.1387C>T (p.Arg463Ter) single nucleotide variant NT5E-related disorder [RCV001825323] Chr6:85492003 [GRCh38]
Chr6:86201721 [GRCh37]
Chr6:6q14.3		 not provided
GRCh37/hg19 6q14.1-15(chr6:83141523-88023466)x1 copy number loss not provided [RCV001829074] Chr6:83141523..88023466 [GRCh37]
Chr6:6q14.1-15		 pathogenic
GRCh37/hg19 6q12-16.1(chr6:69938252-94379210) copy number gain not specified [RCV002053581] Chr6:69938252..94379210 [GRCh37]
Chr6:6q12-16.1		 pathogenic
GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687) copy number loss not specified [RCV002053595] Chr6:85988428..120548687 [GRCh37]
Chr6:6q14.3-22.31		 pathogenic
NC_000006.11:g.(?_84765038)_(86267798_?)del deletion not provided [RCV003123071] Chr6:84765038..86267798 [GRCh37]
Chr6:6q14.2-14.3		 uncertain significance
NM_002526.4(NT5E):c.451G>C (p.Ala151Pro) single nucleotide variant Inborn genetic diseases [RCV003255448] Chr6:85467171 [GRCh38]
Chr6:86176889 [GRCh37]
Chr6:6q14.3		 uncertain significance
GRCh37/hg19 6q14.1-16.1(chr6:78911022-98909173)x1 copy number loss See cases [RCV002292710] Chr6:78911022..98909173 [GRCh37]
Chr6:6q14.1-16.1		 uncertain significance
GRCh37/hg19 6q14.3-15(chr6:86098133-88663964)x3 copy number gain not provided [RCV002474634] Chr6:86098133..88663964 [GRCh37]
Chr6:6q14.3-15		 uncertain significance
NM_002526.4(NT5E):c.28G>C (p.Ala10Pro) single nucleotide variant Inborn genetic diseases [RCV002772567] Chr6:85450167 [GRCh38]
Chr6:86159885 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_002526.4(NT5E):c.1186T>C (p.Ser396Pro) single nucleotide variant Inborn genetic diseases [RCV002734604] Chr6:85489575 [GRCh38]
Chr6:86199293 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_002526.4(NT5E):c.838G>T (p.Ala280Ser) single nucleotide variant Inborn genetic diseases [RCV002778777] Chr6:85485321 [GRCh38]
Chr6:86195039 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_002526.4(NT5E):c.1309C>G (p.His437Asp) single nucleotide variant Inborn genetic diseases [RCV002991305] Chr6:85490606 [GRCh38]
Chr6:86200324 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_002526.4(NT5E):c.463T>A (p.Ser155Thr) single nucleotide variant Inborn genetic diseases [RCV002849178] Chr6:85467183 [GRCh38]
Chr6:86176901 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_002526.4(NT5E):c.172A>G (p.Met58Val) single nucleotide variant Inborn genetic diseases [RCV002911251] Chr6:85450311 [GRCh38]
Chr6:86160029 [GRCh37]
Chr6:6q14.3		 likely benign
NM_002526.4(NT5E):c.10C>G (p.Arg4Gly) single nucleotide variant Inborn genetic diseases [RCV002869626] Chr6:85450149 [GRCh38]
Chr6:86159867 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_002526.4(NT5E):c.35T>G (p.Leu12Arg) single nucleotide variant Inborn genetic diseases [RCV002987560] Chr6:85450174 [GRCh38]
Chr6:86159892 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_002526.4(NT5E):c.1220C>T (p.Thr407Ile) single nucleotide variant Inborn genetic diseases [RCV002789243] Chr6:85490517 [GRCh38]
Chr6:86200235 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_002526.4(NT5E):c.1388G>A (p.Arg463Gln) single nucleotide variant Inborn genetic diseases [RCV002956271] Chr6:85492004 [GRCh38]
Chr6:86201722 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_002526.4(NT5E):c.938G>A (p.Ser313Asn) single nucleotide variant Inborn genetic diseases [RCV003006914] Chr6:85485421 [GRCh38]
Chr6:86195139 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_002526.4(NT5E):c.47T>G (p.Leu16Arg) single nucleotide variant Inborn genetic diseases [RCV002827267] Chr6:85450186 [GRCh38]
Chr6:86159904 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_002526.4(NT5E):c.979T>C (p.Trp327Arg) single nucleotide variant Inborn genetic diseases [RCV002718074] Chr6:85487364 [GRCh38]
Chr6:86197082 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_002526.4(NT5E):c.1208A>G (p.Asn403Ser) single nucleotide variant Inborn genetic diseases [RCV002808255] Chr6:85489597 [GRCh38]
Chr6:86199315 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_002526.4(NT5E):c.1345T>C (p.Phe449Leu) single nucleotide variant Inborn genetic diseases [RCV002878348] Chr6:85490642 [GRCh38]
Chr6:86200360 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_002526.4(NT5E):c.31A>G (p.Thr11Ala) single nucleotide variant Inborn genetic diseases [RCV002724380] Chr6:85450170 [GRCh38]
Chr6:86159888 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_002526.4(NT5E):c.207G>T (p.Gln69His) single nucleotide variant Inborn genetic diseases [RCV003195377] Chr6:85450346 [GRCh38]
Chr6:86160064 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_002526.4(NT5E):c.823G>C (p.Val275Leu) single nucleotide variant Inborn genetic diseases [RCV003206005] Chr6:85485306 [GRCh38]
Chr6:86195024 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_002526.4(NT5E):c.100A>G (p.Thr34Ala) single nucleotide variant Inborn genetic diseases [RCV003376183] Chr6:85450239 [GRCh38]
Chr6:86159957 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_002526.4(NT5E):c.1428C>A (p.Cys476Ter) single nucleotide variant NT5E-related disorder [RCV004552466] Chr6:85492044 [GRCh38]
Chr6:86201762 [GRCh37]
Chr6:6q14.3		 likely pathogenic
NM_002526.4(NT5E):c.1264G>T (p.Asp422Tyr) single nucleotide variant NT5E-related disorder [RCV004550599] Chr6:85490561 [GRCh38]
Chr6:86200279 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_002526.4(NT5E):c.965C>T (p.Ala322Val) single nucleotide variant Hereditary arterial and articular multiple calcification syndrome [RCV003486176] Chr6:85487350 [GRCh38]
Chr6:86197068 [GRCh37]
Chr6:6q14.3		 uncertain significance
GRCh37/hg19 6q14.3(chr6:85747869-86181066)x3 copy number gain not specified [RCV003986653] Chr6:85747869..86181066 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_002526.4(NT5E):c.840C>A (p.Ala280=) single nucleotide variant NT5E-related disorder [RCV004552782] Chr6:85485323 [GRCh38]
Chr6:86195041 [GRCh37]
Chr6:6q14.3		 likely benign
NM_002526.4(NT5E):c.1446C>T (p.Pro482=) single nucleotide variant NT5E-related disorder [RCV004552855] Chr6:85492062 [GRCh38]
Chr6:86201780 [GRCh37]
Chr6:6q14.3		 likely benign
NM_002526.4(NT5E):c.18G>C (p.Ala6=) single nucleotide variant NT5E-related disorder [RCV004552837] Chr6:85450157 [GRCh38]
Chr6:86159875 [GRCh37]
Chr6:6q14.3		 likely benign
NM_002526.4(NT5E):c.1278A>G (p.Leu426=) single nucleotide variant NT5E-related disorder [RCV004552729] Chr6:85490575 [GRCh38]
Chr6:86200293 [GRCh37]
Chr6:6q14.3		 likely benign
NM_002526.4(NT5E):c.19C>G (p.Arg7Gly) single nucleotide variant Inborn genetic diseases [RCV004495927] Chr6:85450158 [GRCh38]
Chr6:86159876 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_002526.4(NT5E):c.313A>G (p.Met105Val) single nucleotide variant Inborn genetic diseases [RCV004495928] Chr6:85450452 [GRCh38]
Chr6:86160170 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_002526.4(NT5E):c.1123C>A (p.His375Asn) single nucleotide variant Inborn genetic diseases [RCV004495923] Chr6:85489512 [GRCh38]
Chr6:86199230 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_002526.4(NT5E):c.1465A>T (p.Met489Leu) single nucleotide variant Inborn genetic diseases [RCV004495926] Chr6:85492081 [GRCh38]
Chr6:86201799 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_002526.4(NT5E):c.1246C>T (p.Pro416Ser) single nucleotide variant Inborn genetic diseases [RCV004495925] Chr6:85490543 [GRCh38]
Chr6:86200261 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_002526.4(NT5E):c.326G>T (p.Arg109Leu) single nucleotide variant Inborn genetic diseases [RCV004638775] Chr6:85450465 [GRCh38]
Chr6:86160183 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_002526.4(NT5E):c.1578C>T (p.Asn526=) single nucleotide variant NT5E-related disorder [RCV004737724] Chr6:85493857 [GRCh38]
Chr6:86203575 [GRCh37]
Chr6:6q14.3		 likely benign
NM_002526.4(NT5E):c.1507A>T (p.Asn503Tyr) single nucleotide variant Inborn genetic diseases [RCV004652541] Chr6:85492123 [GRCh38]
Chr6:86201841 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_002526.4(NT5E):c.1210+12G>C single nucleotide variant Hereditary arterial and articular multiple calcification syndrome [RCV001788577]|not specified [RCV001528336] Chr6:85489611 [GRCh38]
Chr6:86199329 [GRCh37]
Chr6:6q14.3		 benign
NM_002526.4(NT5E):c.223G>T (p.Glu75Ter) single nucleotide variant NT5E-related disorder [RCV001825322] Chr6:85450362 [GRCh38]
Chr6:86160080 [GRCh37]
Chr6:6q14.3		 not provided
GRCh37/hg19 6q14.1-14.3(chr6:82840207-86522229)x1 copy number loss See cases [RCV003222551] Chr6:82840207..86522229 [GRCh37]
Chr6:6q14.1-14.3		 pathogenic
NM_002526.4(NT5E):c.1503G>A (p.Leu501=) single nucleotide variant NT5E-related disorder [RCV004554437] Chr6:85492119 [GRCh38]
Chr6:86201837 [GRCh37]
Chr6:6q14.3		 likely benign
NM_002526.4(NT5E):c.1192A>C (p.Ile398Leu) single nucleotide variant Inborn genetic diseases [RCV004495924] Chr6:85489581 [GRCh38]
Chr6:86199299 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_002526.4(NT5E):c.745T>C (p.Tyr249His) single nucleotide variant Inborn genetic diseases [RCV004495930] Chr6:85471419 [GRCh38]
Chr6:86181137 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_002526.4(NT5E):c.1607A>G (p.Lys536Arg) single nucleotide variant Inborn genetic diseases [RCV004652536] Chr6:85493886 [GRCh38]
Chr6:86203604 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_002526.4(NT5E):c.830T>C (p.Val277Ala) single nucleotide variant Inborn genetic diseases [RCV004652538] Chr6:85485313 [GRCh38]
Chr6:86195031 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_002526.4(NT5E):c.1403G>T (p.Arg468Ile) single nucleotide variant Inborn genetic diseases [RCV004652539] Chr6:85492019 [GRCh38]
Chr6:86201737 [GRCh37]
Chr6:6q14.3		 uncertain significance
NM_002526.4(NT5E):c.406A>G (p.Lys136Glu) single nucleotide variant Inborn genetic diseases [RCV004652540] Chr6:85467126 [GRCh38]
Chr6:86176844 [GRCh37]
Chr6:6q14.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1660
Count of miRNA genes:692
Interacting mature miRNAs:776
Transcripts:ENST00000257770, ENST00000369646, ENST00000369651, ENST00000416334, ENST00000437581
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298426BFD3_HBody fluid distribution QTL 3 (human)2.790.01Body fluid distributionimpedance ratio684873647110873647Human

Markers in Region
STS-X55740  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37686,205,090 - 86,205,256UniSTSGRCh37
Build 36686,261,809 - 86,261,975RGDNCBI36
Celera686,632,271 - 86,632,437RGD
Cytogenetic Map6q14-q21UniSTS
HuRef683,429,374 - 83,429,540UniSTS
GeneMap99-GB4 RH Map6370.8UniSTS
NCBI RH Map61089.6UniSTS
RH99003  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37686,161,640 - 86,161,793UniSTSGRCh37
Build 36686,218,359 - 86,218,512RGDNCBI36
Celera686,588,820 - 86,588,973RGD
Cytogenetic Map6q14-q21UniSTS
HuRef683,385,928 - 83,386,081UniSTS
GeneMap99-GB4 RH Map6384.23UniSTS
SHGC-80786  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37686,192,424 - 86,192,769UniSTSGRCh37
Build 36686,249,143 - 86,249,488RGDNCBI36
Celera686,619,605 - 86,619,950RGD
Cytogenetic Map6q14-q21UniSTS
HuRef683,416,712 - 83,417,057UniSTS
TNG Radiation Hybrid Map640806.0UniSTS
SHGC-81763  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37686,169,720 - 86,170,014UniSTSGRCh37
Build 36686,226,439 - 86,226,733RGDNCBI36
Celera686,596,900 - 86,597,194RGD
Cytogenetic Map6q14-q21UniSTS
HuRef683,394,008 - 83,394,302UniSTS
TNG Radiation Hybrid Map640791.0UniSTS
RH46710  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37686,205,345 - 86,205,467UniSTSGRCh37
Build 36686,262,064 - 86,262,186RGDNCBI36
Celera686,632,526 - 86,632,648RGD
Cytogenetic Map6q14-q21UniSTS
HuRef683,429,629 - 83,429,751UniSTS
GeneMap99-GB4 RH Map6382.29UniSTS
D6S1847  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37686,203,796 - 86,203,905UniSTSGRCh37
Build 36686,260,515 - 86,260,624RGDNCBI36
Celera686,630,977 - 86,631,086RGD
Cytogenetic Map6q14-q21UniSTS
HuRef683,428,080 - 83,428,189UniSTS
Stanford-G3 RH Map63742.0UniSTS
GeneMap99-G3 RH Map64048.0UniSTS
WI-20546  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37686,204,668 - 86,204,966UniSTSGRCh37
Build 36686,261,387 - 86,261,685RGDNCBI36
Celera686,631,849 - 86,632,147RGD
Cytogenetic Map6q14-q21UniSTS
HuRef683,428,952 - 83,429,250UniSTS
GeneMap99-GB4 RH Map6382.12UniSTS
Whitehead-RH Map6562.8UniSTS


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
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2431 2788 2243 4966 1725 2327 3 622 1875 465 2268 7227 6397 44 3728 852 1738 1593 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_028214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001204813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF069067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL135903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL589666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY351432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ019358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ782997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA574510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ186653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JC231864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U21730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X55740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000257770   ⟹   ENSP00000257770
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl685,450,083 - 85,495,784 (+)Ensembl
Ensembl Acc Id: ENST00000369646   ⟹   ENSP00000358660
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl685,450,091 - 85,471,599 (+)Ensembl
Ensembl Acc Id: ENST00000369651   ⟹   ENSP00000358665
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl685,449,584 - 85,495,791 (+)Ensembl
Ensembl Acc Id: ENST00000416334   ⟹   ENSP00000414674
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl685,471,381 - 85,492,161 (+)Ensembl
Ensembl Acc Id: ENST00000437581   ⟹   ENSP00000387630
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl685,485,397 - 85,491,325 (+)Ensembl
RefSeq Acc Id: NM_001204813   ⟹   NP_001191742
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38685,450,083 - 85,495,784 (+)NCBI
GRCh37686,159,302 - 86,205,509 (+)ENTREZGENE
HuRef683,383,590 - 83,429,793 (+)ENTREZGENE
CHM1_1686,257,244 - 86,303,451 (+)NCBI
T2T-CHM13v2.0686,666,882 - 86,712,587 (+)NCBI
Sequence:
RefSeq Acc Id: NM_002526   ⟹   NP_002517
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38685,450,083 - 85,495,784 (+)NCBI
GRCh37686,159,302 - 86,205,509 (+)ENTREZGENE
Build 36686,216,528 - 86,262,215 (+)NCBI Archive
HuRef683,383,590 - 83,429,793 (+)ENTREZGENE
CHM1_1686,257,244 - 86,303,451 (+)NCBI
T2T-CHM13v2.0686,666,882 - 86,712,587 (+)NCBI
Sequence:
RefSeq Acc Id: NP_002517   ⟸   NM_002526
- Peptide Label: isoform 1 preproprotein
- UniProtKB: O75520 (UniProtKB/Swiss-Prot),   B3KQI8 (UniProtKB/Swiss-Prot),   Q5W116 (UniProtKB/Swiss-Prot),   P21589 (UniProtKB/Swiss-Prot),   B2RBH2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001191742   ⟸   NM_001204813
- Peptide Label: isoform 2 preproprotein
- UniProtKB: B2RBH2 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000257770   ⟸   ENST00000257770
Ensembl Acc Id: ENSP00000414674   ⟸   ENST00000416334
Ensembl Acc Id: ENSP00000358660   ⟸   ENST00000369646
Ensembl Acc Id: ENSP00000358665   ⟸   ENST00000369651
Ensembl Acc Id: ENSP00000387630   ⟸   ENST00000437581
Protein Domains
5'-Nucleotidase C-terminal   Calcineurin-like phosphoesterase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P21589-F1-model_v2 AlphaFold P21589 1-574 view protein structure

Promoters
RGD ID:7208617
Promoter ID:EPDNEW_H10054
Type:initiation region
Name:NT5E_1
Description:5'-nucleotidase ecto
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
GRCh38685,450,083 - 85,450,143EPDNEW
RGD ID:6804056
Promoter ID:HG_KWN:54255
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:ENST00000369647,   NM_002526,   UC003PKN.2,   UC010KBR.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36686,216,051 - 86,216,612 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8021 AgrOrtholog
COSMIC NT5E COSMIC
Ensembl Genes ENSG00000135318 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000257770 ENTREZGENE
  ENST00000257770.8 UniProtKB/Swiss-Prot
  ENST00000369646.7 UniProtKB/TrEMBL
  ENST00000369651 ENTREZGENE
  ENST00000369651.7 UniProtKB/Swiss-Prot
  ENST00000416334.5 UniProtKB/TrEMBL
  ENST00000437581.1 UniProtKB/TrEMBL
Gene3D-CATH 3.60.21.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.90.780.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000135318 GTEx
HGNC ID HGNC:8021 ENTREZGENE
Human Proteome Map NT5E Human Proteome Map
InterPro 5'-Nucleotdase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  5'-Nucleotdase_C_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  5'-Nucleotdase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  5_nucleotidase/apyrase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Calcineurin-like_PHP_ApaH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Metallo-depent_PP-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4907 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 4907 ENTREZGENE
OMIM 129190 OMIM
PANTHER 5'-NUCLEOTIDASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11575 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam 5_nucleotid_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Metallophos UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB NT5E RGD, PharmGKB
PRINTS APYRASEFAMLY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE 5_NUCLEOTIDASE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  5_NUCLEOTIDASE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF55816 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt 5NTD_HUMAN UniProtKB/Swiss-Prot
  B2RBH2 ENTREZGENE, UniProtKB/TrEMBL
  B3KQI8 ENTREZGENE
  H0Y3X5_HUMAN UniProtKB/TrEMBL
  H0Y7R7_HUMAN UniProtKB/TrEMBL
  O75520 ENTREZGENE
  P21589 ENTREZGENE
  Q53Z63_HUMAN UniProtKB/TrEMBL
  Q5W116 ENTREZGENE
  Q6NZX3_HUMAN UniProtKB/TrEMBL
  Q96B60_HUMAN UniProtKB/TrEMBL
UniProt Secondary B3KQI8 UniProtKB/Swiss-Prot
  O75520 UniProtKB/Swiss-Prot
  Q5W116 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-19 NT5E  5'-nucleotidase ecto    5'-nucleotidase, ecto (CD73)  Symbol and/or name change 5135510 APPROVED