ENO2 (enolase 2) - Rat Genome Database

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Gene: ENO2 (enolase 2) Homo sapiens
Analyze
Symbol: ENO2
Name: enolase 2
RGD ID: 733932
HGNC Page HGNC:3353
Description: Predicted to enable enzyme binding activity and phosphopyruvate hydratase activity. Predicted to be involved in glycolytic process. Located in cytosol and plasma membrane. Implicated in prostate cancer. Biomarker of several diseases, including breast carcinoma; hypertension; migraine without aura; neuroendocrine carcinoma; and urinary bladder cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 2-phospho-D-glycerate hydro-lyase; 2-phospho-D-glycerate hydrolyase; enolase 2 (gamma, neuronal); enolase 2, gamma; epididymis secretory protein Li 279; gamma-enolase; HEL-S-279; neural enolase; neuron specific gamma enolase; neuron-specific enolase; neuronal enriched enolase; neurone-specific enolase; NSE
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
GRCh38126,914,580 - 6,923,697 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl126,913,745 - 6,923,698 (+)EnsemblGRCh38hg38GRCh38
GRCh37127,023,744 - 7,032,860 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36126,893,875 - 6,903,120 (+)NCBINCBI36Build 36hg18NCBI36
Build 34126,893,874 - 6,903,120NCBI
Celera128,642,227 - 8,651,475 (+)NCBICelera
Cytogenetic Map12p13.31NCBI
HuRef126,879,463 - 6,888,873 (+)NCBIHuRef
CHM1_1127,022,496 - 7,031,732 (+)NCBICHM1_1
T2T-CHM13v2.0126,925,760 - 6,934,876 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-alpha-phellandrene  (EXP)
1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane  (ISO)
1,1-dichloroethene  (ISO)
1,10-phenanthroline  (EXP)
1,2-dimethylhydrazine  (ISO)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (EXP,ISO)
2-ethoxyethanol  (ISO)
2-hydroxypropanoic acid  (EXP)
2-methoxyethanol  (ISO)
3',5'-cyclic AMP  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3,4-dichloroaniline  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3-methyladenine  (ISO)
3-nitropropanoic acid  (ISO)
4,4'-sulfonyldiphenol  (EXP)
5-aza-2'-deoxycytidine  (EXP)
5-azacytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
acrylamide  (EXP)
actinomycin D  (EXP)
aflatoxin B1  (EXP)
aldehydo-D-glucose  (EXP)
all-trans-retinoic acid  (EXP,ISO)
alpha-phellandrene  (EXP)
alpha-Zearalanol  (ISO)
aluminium atom  (EXP)
aluminium(0)  (EXP)
amitrole  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
aristolochic acids  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
Azaspiracid  (EXP)
azoxystrobin  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
beta-lapachone  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bleomycin A5  (EXP)
bortezomib  (EXP)
bucladesine  (EXP)
butanal  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
caffeine  (EXP)
cannabidiol  (ISO)
capsaicin  (ISO)
carbon monoxide  (EXP)
carbon nanotube  (EXP)
cefaloridine  (ISO)
chloroacetaldehyde  (EXP)
chloroquine  (ISO)
chlorpromazine  (ISO)
chromium(6+)  (EXP)
cidofovir anhydrous  (EXP)
cisplatin  (EXP,ISO)
clodronic acid  (EXP)
cobalt atom  (EXP)
cobalt dichloride  (EXP,ISO)
cobalt(2+) sulfate  (EXP)
cocaine  (EXP)
cyclosporin A  (EXP)
D-glucose  (EXP)
DAPT  (ISO)
deguelin  (EXP)
dexamethasone  (EXP,ISO)
diethyl malate  (EXP)
diethylstilbestrol  (EXP)
dimethylarsinic acid  (ISO)
dinophysistoxin 1  (EXP)
diosmin  (ISO)
dioxygen  (EXP,ISO)
disulfoton  (ISO)
diuron  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
elemental selenium  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
estriol  (EXP)
estrone  (EXP)
ethanol  (EXP,ISO)
ferric oxide  (ISO)
ferroheme b  (ISO)
folic acid  (ISO)
furan  (ISO)
gallic acid  (EXP)
genistein  (EXP)
gentamycin  (ISO)
glucose  (EXP)
heme b  (ISO)
ifosfamide  (EXP)
indometacin  (EXP)
ivermectin  (EXP)
ketamine  (ISO)
leflunomide  (EXP)
Macrosphelide A  (EXP)
maneb  (ISO)
manganese(II) chloride  (ISO)
melatonin  (ISO)
metformin  (ISO)
methamphetamine  (ISO)
methimazole  (ISO)
methotrexate  (EXP)
methyl methanesulfonate  (EXP)
methylglyoxal  (EXP)
methylseleninic acid  (EXP)
mifepristone  (ISO)
N-acetyl-beta-D-glucosamine  (EXP)
N-acetyl-D-glucosamine  (EXP)
N-nitrosodimethylamine  (EXP)
nickel dichloride  (EXP)
nickel sulfate  (EXP)
niclosamide  (EXP)
Nonylphenol  (EXP)
Nutlin-3  (EXP)
ochratoxin A  (ISO)
paracetamol  (ISO)
paraquat  (ISO)
PCB138  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenylephrine  (ISO)
phenylmercury acetate  (EXP)
picoxystrobin  (EXP)
pirinixic acid  (ISO)
potassium chromate  (EXP)
propanal  (EXP)
rac-lactic acid  (EXP)
raloxifene  (EXP)
resorcinol  (EXP)
resveratrol  (EXP,ISO)
Salidroside  (ISO)
sarin  (ISO)
SB 431542  (EXP)
selenium atom  (EXP)
silicon dioxide  (EXP)
sirolimus  (ISO)
sodium arsenate  (EXP)
sodium arsenite  (EXP,ISO)
sotorasib  (EXP)
streptozocin  (ISO)
succimer  (ISO)
sulfadimethoxine  (ISO)
sunitinib  (EXP)
tebufenpyrad  (EXP)
temozolomide  (EXP)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
thimerosal  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trametinib  (EXP)
tremolite asbestos  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
Tungsten carbide  (EXP)
tunicamycin  (EXP)
urethane  (EXP)
valproic acid  (EXP,ISO)
vandetanib  (EXP)
vitamin E  (EXP)
vorinostat  (EXP)
WIN 55212-2  (EXP)
Yessotoxin  (EXP)
zinc dichloride  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Large cell and small cell neuroendocrine bladder carcinoma: immunohistochemical and outcome study in a single institution. Alijo Serrano F, etal., Am J Clin Pathol. 2007 Nov;128(5):733-9.
2. Novel role for gabapentin in neuroprotection of central nervous system in streptozotocine-induced diabetic rats. Baydas G, etal., Acta Pharmacol Sin. 2005 Apr;26(4):417-22.
3. Trajectory analysis of serum biomarker concentrations facilitates outcome prediction after pediatric traumatic and hypoxemic brain injury. Berger RP, etal., Dev Neurosci. 2010;32(5-6):396-405. Epub 2010 Sep 18.
4. Elevation of neuron-specific enolase and S-100beta protein level in experimental acute spinal cord injury. Cao F, etal., J Clin Neurosci. 2008 May;15(5):541-4. Epub 2008 Mar 14.
5. Serum levels of S100B and NSE proteins in Alzheimer's disease patients. Chaves ML, etal., J Neuroinflammation. 2010 Jan 27;7:6.
6. A retrospective immunohistochemical and clinicopathological study of small cell carcinomas of the urinary tract. Chuang CK and Liao SK, Chang Gung Med J. 2003 Jan;26(1):26-33.
7. Proteomic characterization of protein phosphatase 1 complexes in ischemia-reperfusion and ischemic tolerance. Cid C, etal., Proteomics. 2007 Sep;7(17):3207-18.
8. Hippocampal levels of gamma-enolase, C-1-tetrahydrofolate synthase and serotransferrin fluctuate over the estrous cycle in the rat. Diao WF, etal., Neuroscience. 2008 Apr 11;.
9. Zhonghua bing li xue za zhi Chinese journal of pathology Ding HY and Gao LX, Zhonghua Bing Li Xue Za Zhi. 2006 Jan;35(1):13-7.
10. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
11. Increased serum S-100B and neuron specific enolase - Potential markers of early nervous system involvement in essential hypertension. Gonzalez-Quevedo A, etal., Clin Biochem. 2011 Feb;44(2-3):154-9. Epub 2010 Dec 1.
12. Combined large cell neuroendocrine and endometrioid carcinoma of the endometrium. Mulvany NJ and Allen DG, Int J Gynecol Pathol. 2008 Jan;27(1):49-57.
13. Immunophenotype and cytogenetics of mucinous tubular and spindle cell carcinoma of the kidney. Okon K, etal., Pol J Pathol. 2007;58(4):227-33.
14. Biochemical brain markers and purinergic parameters in rat CSF after seizure induced by pentylenetetrazol. Oses JP, etal., Brain Res Bull. 2004 Sep 30;64(3):237-42.
15. Nonspecific increase of systemic neuron-specific enolase after trauma: clinical and experimental findings. Pelinka LE, etal., Shock. 2005 Aug;24(2):119-23.
16. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
17. Response of rat cerebral glycolytic enzymes to hyperammonemic states. Ratnakumari L and Murthy CR, Neurosci Lett. 1993 Oct 14;161(1):37-40.
18. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
19. Monochloroacetic acid inhibits liver gluconeogenesis by inactivating glyceraldehyde-3-phosphate dehydrogenase. Sakai A, etal., Chem Res Toxicol. 2005 Feb;18(2):277-82.
20. Proteomic analysis of striatal proteins in the rat model of L-DOPA-induced dyskinesia. Valastro B, etal., J Neurochem. 2007 Aug;102(4):1395-409. Epub 2007 May 26.
21. Interleukin-6 inhibits the growth of prostate cancer xenografts in mice by the process of neuroendocrine differentiation. Wang Q, etal., Int J Cancer. 2004 Sep 10;111(4):508-13.
22. Comparative study of primary mammary small cell carcinoma, carcinoma with endocrine features and invasive ductal carcinoma. Yamamoto J, etal., Oncol Rep. 2004 Apr;11(4):825-31.
23. Neoplastic and non-neoplastic cell lines from a malignant peripheral nerve sheath tumour of the cervix of a rat. Yamate J, etal., J Comp Pathol. 2007 Jul;137(1):9-21. Epub 2007 May 29.
24. Zhonghua er ke za zhi. Chinese journal of pediatrics Yang XL, etal., Zhonghua Er Ke Za Zhi. 2006 Aug;44(8):583-6.
25. Elevated S100B and neuron specific enolase levels in patients with migraine-without aura: evidence for neurodegeneration? Yilmaz N, etal., Cell Mol Neurobiol. 2011 May;31(4):579-85. Epub 2011 Feb 4.
26. Zhonghua nan ke xue = National journal of andrology Zhao YC, etal., Zhonghua Nan Ke Xue. 2007 Feb;13(2):157-60.
Additional References at PubMed
PMID:2045099   PMID:2249478   PMID:2792767   PMID:3208766   PMID:3385803   PMID:3653393   PMID:3974199   PMID:7682534   PMID:8035205   PMID:8264236   PMID:9074930   PMID:11881792  
PMID:11919335   PMID:11935405   PMID:11983209   PMID:11985791   PMID:12353304   PMID:12477932   PMID:12581805   PMID:12636057   PMID:14631087   PMID:14702039   PMID:15289101   PMID:15489334  
PMID:15592455   PMID:15951569   PMID:16027165   PMID:16169070   PMID:16236267   PMID:16411755   PMID:16978415   PMID:17436063   PMID:17618570   PMID:18063947   PMID:18460190   PMID:18609108  
PMID:18783450   PMID:19074885   PMID:19204726   PMID:19220958   PMID:19221293   PMID:19221847   PMID:19307814   PMID:19405953   PMID:19433310   PMID:19445653   PMID:19540138   PMID:20348052  
PMID:20381070   PMID:20458337   PMID:20495226   PMID:20537424   PMID:20686797   PMID:20873151   PMID:21044950   PMID:21145461   PMID:21149784   PMID:21163940   PMID:21165441   PMID:21319273  
PMID:21358174   PMID:21368691   PMID:21553520   PMID:21587126   PMID:21775743   PMID:21815777   PMID:21824428   PMID:21846577   PMID:21868318   PMID:21873635   PMID:21877195   PMID:21924039  
PMID:21976236   PMID:21994954   PMID:21995595   PMID:22087329   PMID:22088515   PMID:22256771   PMID:22300752   PMID:22360420   PMID:22437160   PMID:22452413   PMID:22551201   PMID:22582497  
PMID:22664934   PMID:22674301   PMID:22863883   PMID:22893673   PMID:22895339   PMID:22932993   PMID:23074103   PMID:23208248   PMID:23212584   PMID:23380091   PMID:23406753   PMID:23438682  
PMID:23533145   PMID:23564292   PMID:23712355   PMID:23713736   PMID:23725171   PMID:23775010   PMID:23796187   PMID:23836424   PMID:23842744   PMID:23846809   PMID:23889347   PMID:23992005  
PMID:23996295   PMID:24104479   PMID:24337577   PMID:24375395   PMID:24470708   PMID:24505052   PMID:24642341   PMID:24659657   PMID:24733614   PMID:24760429   PMID:24796851   PMID:24838548  
PMID:24981860   PMID:25183561   PMID:25211554   PMID:25326085   PMID:25341992   PMID:25416956   PMID:25518864   PMID:25640309   PMID:25686504   PMID:25904356   PMID:25918939   PMID:25921289  
PMID:26040109   PMID:26186194   PMID:26217791   PMID:26299616   PMID:26324761   PMID:26344197   PMID:26355117   PMID:26421286   PMID:26481852   PMID:26514267   PMID:26560853   PMID:26638075  
PMID:26712902   PMID:26719155   PMID:26730601   PMID:26867533   PMID:26886220   PMID:26972711   PMID:27000243   PMID:27072222   PMID:27072263   PMID:27271274   PMID:27433840   PMID:27464303  
PMID:27495086   PMID:27623437   PMID:27653032   PMID:28056586   PMID:28127669   PMID:28514442   PMID:28524877   PMID:28569132   PMID:28571730   PMID:28671048   PMID:28885659   PMID:28931055  
PMID:29145241   PMID:29222857   PMID:29244749   PMID:29247745   PMID:29317049   PMID:29484801   PMID:29689546   PMID:29715546   PMID:29737901   PMID:29845934   PMID:29907848   PMID:29989303  
PMID:30171330   PMID:30185093   PMID:30669174   PMID:30779465   PMID:30838543   PMID:30849967   PMID:30940648   PMID:31091854   PMID:31298480   PMID:31329371   PMID:31402486   PMID:31405213  
PMID:31414742   PMID:31418324   PMID:31501420   PMID:31536960   PMID:31615270   PMID:32013731   PMID:32024492   PMID:32141647   PMID:32235678   PMID:32311993   PMID:32398667   PMID:32473655  
PMID:32513696   PMID:32707033   PMID:33016150   PMID:33072201   PMID:33123300   PMID:33130683   PMID:33135164   PMID:33342344   PMID:33566872   PMID:33709781   PMID:33762435   PMID:33849122  
PMID:33934428   PMID:33961781   PMID:33984366   PMID:34160445   PMID:34286335   PMID:34349018   PMID:34350711   PMID:34428256   PMID:34513079   PMID:34790052   PMID:34819571   PMID:34895236  
PMID:35063084   PMID:35188847   PMID:35190890   PMID:35235311   PMID:35255971   PMID:35271311   PMID:35387700   PMID:35429240   PMID:35446349   PMID:35615727   PMID:35621141   PMID:35665437  
PMID:35944360   PMID:35954207   PMID:36168627   PMID:36215168   PMID:36359803   PMID:36419844   PMID:36517590   PMID:36562383   PMID:36564658   PMID:36588153   PMID:36634849   PMID:36652389  
PMID:36945054   PMID:37071682   PMID:37088873   PMID:37114304   PMID:37117180   PMID:37189072   PMID:38250157   PMID:38302568   PMID:38710213   PMID:38923759  


Genomics

Comparative Map Data
ENO2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38126,914,580 - 6,923,697 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl126,913,745 - 6,923,698 (+)EnsemblGRCh38hg38GRCh38
GRCh37127,023,744 - 7,032,860 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36126,893,875 - 6,903,120 (+)NCBINCBI36Build 36hg18NCBI36
Build 34126,893,874 - 6,903,120NCBI
Celera128,642,227 - 8,651,475 (+)NCBICelera
Cytogenetic Map12p13.31NCBI
HuRef126,879,463 - 6,888,873 (+)NCBIHuRef
CHM1_1127,022,496 - 7,031,732 (+)NCBICHM1_1
T2T-CHM13v2.0126,925,760 - 6,934,876 (+)NCBIT2T-CHM13v2.0
Eno2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm396124,737,018 - 124,746,489 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl6124,737,016 - 124,746,636 (-)EnsemblGRCm39 Ensembl
GRCm386124,760,053 - 124,769,673 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl6124,760,053 - 124,769,673 (-)EnsemblGRCm38mm10GRCm38
MGSCv376124,710,073 - 124,719,527 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv366124,725,674 - 124,735,128 (-)NCBIMGSCv36mm8
Celera6126,441,787 - 126,451,238 (-)NCBICelera
Cytogenetic Map6F2NCBI
cM Map659.17NCBI
Eno2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr84159,258,371 - 159,267,220 (-)NCBIGRCr8
mRatBN7.24157,572,085 - 157,580,971 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl4157,572,088 - 157,580,980 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx4163,794,317 - 163,803,151 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.04159,577,221 - 159,586,060 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.04158,218,791 - 158,227,643 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.04157,285,192 - 157,294,090 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4157,285,179 - 157,294,047 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0 Ensembl920,251,521 - 20,260,505 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04224,302,788 - 224,311,673 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44160,891,003 - 160,897,723 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.14161,135,093 - 161,144,004 (-)NCBI
Celera4146,310,173 - 146,318,990 (-)NCBICelera
Cytogenetic Map4q42NCBI
Eno2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554134,498,625 - 4,506,769 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554134,498,625 - 4,506,769 (+)NCBIChiLan1.0ChiLan1.0
ENO2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21012,477,602 - 12,487,428 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11212,474,935 - 12,484,187 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0127,043,807 - 7,053,178 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1126,958,965 - 6,968,342 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl126,958,960 - 6,968,342 (+)Ensemblpanpan1.1panPan2
ENO2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12738,120,404 - 38,128,543 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2738,119,413 - 38,129,182 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha278,488,257 - 8,496,383 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02738,472,946 - 38,481,067 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2738,472,946 - 38,481,347 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12738,347,347 - 38,355,466 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02738,388,323 - 38,396,440 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0277,966,986 - 7,975,105 (+)NCBIUU_Cfam_GSD_1.0
Eno2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945102,237,098 - 102,245,902 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936709904,031 - 913,451 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936709904,647 - 913,445 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ENO2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl563,799,930 - 63,809,410 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1563,799,927 - 63,809,067 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2566,236,691 - 66,245,741 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ENO2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1116,945,243 - 6,954,959 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl116,945,413 - 6,957,304 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660631,262,744 - 1,272,484 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Eno2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248603,553,947 - 3,564,294 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248603,553,936 - 3,561,343 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ENO2
19 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12p13.33-11.22(chr12:121055-28415184)x1 copy number loss See cases [RCV000052776] Chr12:121055..28415184 [GRCh38]
Chr12:282465..28568117 [GRCh37]
Chr12:100482..28459384 [NCBI36]
Chr12:12p13.33-11.22
pathogenic
GRCh38/hg38 12p13.31(chr12:6728665-7705620)x1 copy number loss See cases [RCV000052779] Chr12:6728665..7705620 [GRCh38]
Chr12:6837831..7858216 [GRCh37]
Chr12:6708092..7749483 [NCBI36]
Chr12:12p13.31
pathogenic
GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3 copy number gain See cases [RCV000053662] Chr12:80412..25470329 [GRCh38]
Chr12:282465..25623263 [GRCh37]
Chr12:59839..25514530 [NCBI36]
Chr12:12p13.33-12.1
pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:121055-7272606)x3 copy number gain See cases [RCV000053663] Chr12:121055..7272606 [GRCh38]
Chr12:282465..7425202 [GRCh37]
Chr12:100482..7316469 [NCBI36]
Chr12:12p13.33-13.31
pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:121255-8361746)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053664]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053664]|See cases [RCV000053664] Chr12:121255..8361746 [GRCh38]
Chr12:282465..8514342 [GRCh37]
Chr12:100682..8405609 [NCBI36]
Chr12:12p13.33-13.31
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4 copy number gain See cases [RCV000053666] Chr12:212976..33926913 [GRCh38]
Chr12:322142..34079848 [GRCh37]
Chr12:192403..33971115 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3 copy number gain See cases [RCV000053660] Chr12:77187..34380176 [GRCh38]
Chr12:282465..34533111 [GRCh37]
Chr12:56614..34424378 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3 copy number gain See cases [RCV000137694] Chr12:2871741..14987348 [GRCh38]
Chr12:2980907..15140282 [GRCh37]
Chr12:2851168..15031549 [NCBI36]
Chr12:12p13.33-12.3
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3 copy number gain See cases [RCV000139052] Chr12:121271..34603261 [GRCh38]
Chr12:282465..34756196 [GRCh37]
Chr12:100698..34647463 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4 copy number gain See cases [RCV000139787] Chr12:54427..34608071 [GRCh38]
Chr12:282465..34761006 [GRCh37]
Chr12:33854..34652273 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3 copy number gain See cases [RCV000141905] Chr12:1258274..20657577 [GRCh38]
Chr12:1367440..20810511 [GRCh37]
Chr12:1237701..20701778 [NCBI36]
Chr12:12p13.33-12.2
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4 copy number gain See cases [RCV000142149] Chr12:64620..34682902 [GRCh38]
Chr12:173786..34835837 [GRCh37]
Chr12:44047..34727104 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4 copy number gain See cases [RCV000240164] Chr12:148034..34178799 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic|likely pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3 copy number gain See cases [RCV000240487] Chr12:89061..34178799 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
NM_001975.3(ENO2):c.1235+2_1235+5dup duplication Hereditary breast ovarian cancer syndrome [RCV001374558] Chr12:6922402..6922403 [GRCh38]
Chr12:7031565..7031566 [GRCh37]
Chr12:12p13.31
uncertain significance
NC_000012.12:g.(1_3750000)_(5250000_9000000)del deletion Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000758697] Chr12:3750000..5250000 [GRCh38]
Chr12:12p13.33-13.31
pathogenic|not provided
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)x3 copy number gain See cases [RCV000449191] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11
pathogenic
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)x3 copy number gain See cases [RCV000449287] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain See cases [RCV000447551] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-12.2(chr12:173786-20026080)x3 copy number gain See cases [RCV000446050] Chr12:173786..20026080 [GRCh37]
Chr12:12p13.33-12.2
pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-8257049)x3 copy number gain See cases [RCV000446749] Chr12:173786..8257049 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150) copy number gain See cases [RCV000446017] Chr12:189578..34756150 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-13.2(chr12:173786-11677456)x3 copy number gain See cases [RCV000510853] Chr12:173786..11677456 [GRCh37]
Chr12:12p13.33-13.2
pathogenic
GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3 copy number gain See cases [RCV000510961] Chr12:173786..28219229 [GRCh37]
Chr12:12p13.33-11.22
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3 copy number gain not provided [RCV000683478] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:191242-8122785)x3 copy number gain not provided [RCV000683477] Chr12:191242..8122785 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain not provided [RCV000683479] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3 copy number gain not provided [RCV000683480] Chr12:173786..37869107 [GRCh37]
Chr12:12p13.33-q11
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-11.21(chr12:191619-31733044)x3 copy number gain not provided [RCV000750245] Chr12:191619..31733044 [GRCh37]
Chr12:12p13.33-11.21
pathogenic
GRCh37/hg19 12p13.31(chr12:6911437-9381254)x3 copy number gain not provided [RCV000750277] Chr12:6911437..9381254 [GRCh37]
Chr12:12p13.31
uncertain significance
NC_000012.11:g.(?_6945914)_(8248706_?)dup duplication Temtamy syndrome [RCV001031096] Chr12:6945914..8248706 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001975.3(ENO2):c.311-9A>C single nucleotide variant not provided [RCV000967251] Chr12:6917572 [GRCh38]
Chr12:7026736 [GRCh37]
Chr12:12p13.31
benign
GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4 copy number gain not provided [RCV001006470] Chr12:274676..37869301 [GRCh37]
Chr12:12p13.33-q11
pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:189216-8185497) copy number gain not provided [RCV000767819] Chr12:189216..8185497 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420) copy number gain not provided [RCV000767817] Chr12:189216..15001420 [GRCh37]
Chr12:12p13.33-12.3
pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:237588-8278292) copy number gain not provided [RCV000767818] Chr12:237588..8278292 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
NC_000012.11:g.(?_6945914)_(9027627_?)dup duplication Temtamy syndrome [RCV000816630] Chr12:6945914..9027627 [GRCh37]
Chr12:12p13.31
uncertain significance
GRCh37/hg19 12p13.33-13.31(chr12:173786-8393815)x3 copy number gain not provided [RCV000846343] Chr12:173786..8393815 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3 copy number gain not provided [RCV000847209] Chr12:173786..34496628 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
NC_000012.11:g.(?_4368352)_(9027607_?)dup duplication Lymphoproliferative syndrome 2 [RCV003105682] Chr12:4368352..9027607 [GRCh37]
Chr12:12p13.32-13.31
uncertain significance
GRCh37/hg19 12p13.33-13.31(chr12:189145-7730395)x3 copy number gain not provided [RCV001537906] Chr12:189145..7730395 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
NC_000012.11:g.(?_6438458)_(7362839_?)dup duplication Peroxisome biogenesis disorder 2B [RCV001031288] Chr12:6438458..7362839 [GRCh37]
Chr12:12p13.31
uncertain significance
NC_000012.11:g.(?_6945914)_(9027627_?)dup duplication Developmental and epileptic encephalopathy, 21 [RCV001325295]|Klippel-Feil syndrome 3, autosomal dominant [RCV001301079]|Temtamy syndrome [RCV000816630]|not provided [RCV001859243] Chr12:6945914..9027627 [GRCh37]
Chr12:12p13.31
uncertain significance|no classifications from unflagged records
NC_000012.11:g.(?_6438478)_(7362819_?)dup duplication Temtamy syndrome [RCV001365174] Chr12:6438478..7362819 [GRCh37]
Chr12:12p13.31
uncertain significance
GRCh37/hg19 12p13.33-13.31(chr12:146240-8330229)x3 copy number gain Obesity [RCV001801197] Chr12:146240..8330229 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
GRCh37/hg19 12p13.31(chr12:6872634-7244086) copy number gain not specified [RCV002052969] Chr12:6872634..7244086 [GRCh37]
Chr12:12p13.31
uncertain significance
NC_000012.11:g.(?_6438478)_(8756953_?)dup duplication not provided [RCV001970781] Chr12:6438478..8756953 [GRCh37]
Chr12:12p13.31
uncertain significance
NC_000012.11:g.(?_6438478)_(8248686_?)dup duplication Temtamy syndrome [RCV003120743]|not provided [RCV001913769] Chr12:6438478..8248686 [GRCh37]
Chr12:12p13.31
uncertain significance|no classifications from unflagged records
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837) copy number gain not specified [RCV002052957] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.31(chr12:6530146-7376398) copy number gain not specified [RCV002052968] Chr12:6530146..7376398 [GRCh37]
Chr12:12p13.31
uncertain significance
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865) copy number gain not specified [RCV002052955] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1
pathogenic
NC_000012.11:g.(?_6978008)_(9010204_?)dup duplication Peroxisome biogenesis disorder 2B [RCV001877402] Chr12:6978008..9010204 [GRCh37]
Chr12:12p13.31
uncertain significance
NC_000012.11:g.(?_6438478)_(9027607_?)dup duplication not provided [RCV001943267] Chr12:6438478..9027607 [GRCh37]
Chr12:12p13.31
uncertain significance
NC_000012.11:g.(?_6945914)_(7362819_?)dup duplication not provided [RCV001943326] Chr12:6945914..7362819 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001975.3(ENO2):c.95G>A (p.Arg32Gln) single nucleotide variant not specified [RCV004290704] Chr12:6916426 [GRCh38]
Chr12:7025590 [GRCh37]
Chr12:12p13.31
uncertain significance
GRCh37/hg19 12p13.33-13.31(chr12:173787-8320544)x3 copy number gain not provided [RCV002472514] Chr12:173787..8320544 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
NM_001975.3(ENO2):c.1118C>T (p.Ser373Leu) single nucleotide variant not specified [RCV004143508] Chr12:6922106 [GRCh38]
Chr12:7031269 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001975.3(ENO2):c.806G>T (p.Arg269Leu) single nucleotide variant not specified [RCV004239945] Chr12:6919704 [GRCh38]
Chr12:7028868 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001975.3(ENO2):c.601G>A (p.Gly201Ser) single nucleotide variant not specified [RCV004170426] Chr12:6918096 [GRCh38]
Chr12:7027260 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001975.3(ENO2):c.534T>G (p.Phe178Leu) single nucleotide variant not specified [RCV004163123] Chr12:6918029 [GRCh38]
Chr12:7027193 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001975.3(ENO2):c.166C>T (p.Arg56Cys) single nucleotide variant not specified [RCV004162045] Chr12:6916497 [GRCh38]
Chr12:7025661 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001975.3(ENO2):c.253G>A (p.Val85Met) single nucleotide variant not specified [RCV004085248] Chr12:6917050 [GRCh38]
Chr12:7026214 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001975.3(ENO2):c.545T>C (p.Met182Thr) single nucleotide variant not specified [RCV004226431] Chr12:6918040 [GRCh38]
Chr12:7027204 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001975.3(ENO2):c.1199G>A (p.Arg400His) single nucleotide variant not specified [RCV004237874] Chr12:6922366 [GRCh38]
Chr12:7031529 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001975.3(ENO2):c.1177A>G (p.Ile393Val) single nucleotide variant not specified [RCV004215813] Chr12:6922344 [GRCh38]
Chr12:7031507 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001975.3(ENO2):c.275A>G (p.Asn92Ser) single nucleotide variant not specified [RCV004216822] Chr12:6917072 [GRCh38]
Chr12:7026236 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001975.3(ENO2):c.717G>T (p.Lys239Asn) single nucleotide variant not specified [RCV004353437] Chr12:6919615 [GRCh38]
Chr12:7028779 [GRCh37]
Chr12:12p13.31
uncertain significance
Single allele duplication not provided [RCV003448692] Chr12:188053..34856694 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3 copy number gain not specified [RCV003986979] Chr12:173786..34835641 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
NM_001975.3(ENO2):c.409C>T (p.Leu137=) single nucleotide variant ENO2-related disorder [RCV003977103] Chr12:6917679 [GRCh38]
Chr12:7026843 [GRCh37]
Chr12:12p13.31
likely benign
NM_001975.3(ENO2):c.426C>T (p.Asp142=) single nucleotide variant ENO2-related disorder [RCV003937149] Chr12:6917696 [GRCh38]
Chr12:7026860 [GRCh37]
Chr12:12p13.31
likely benign
NM_001975.3(ENO2):c.548G>A (p.Arg183Gln) single nucleotide variant not specified [RCV004382790] Chr12:6918043 [GRCh38]
Chr12:7027207 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001975.3(ENO2):c.991G>A (p.Ala331Thr) single nucleotide variant not specified [RCV004382793] Chr12:6921706 [GRCh38]
Chr12:7030869 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001975.3(ENO2):c.806G>A (p.Arg269Gln) single nucleotide variant not specified [RCV004625041] Chr12:6919704 [GRCh38]
Chr12:7028868 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001975.3(ENO2):c.145C>A (p.Leu49Met) single nucleotide variant not specified [RCV004625043] Chr12:6916476 [GRCh38]
Chr12:7025640 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001975.3(ENO2):c.647A>G (p.Asn216Ser) single nucleotide variant not specified [RCV004625040] Chr12:6918142 [GRCh38]
Chr12:7027306 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_001975.3(ENO2):c.569A>G (p.His190Arg) single nucleotide variant not specified [RCV004382791] Chr12:6918064 [GRCh38]
Chr12:7027228 [GRCh37]
Chr12:12p13.31
uncertain significance
GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3 copy number gain See cases [RCV000135350] Chr12:45740..6945196 [GRCh38]
Chr12:147099..7054359 [GRCh37]
Chr12:17360..6924620 [NCBI36]
Chr12:12p13.33-13.31
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3 copy number gain See cases [RCV000136611] Chr12:121255..34603274 [GRCh38]
Chr12:282465..34756209 [GRCh37]
Chr12:100682..34647476 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3 copy number gain See cases [RCV000511580] Chr12:565369..34835837 [GRCh37]
Chr12:12p13.33-11.1
likely pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301) copy number gain not specified [RCV002052958] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4 copy number gain Pallister-Killian syndrome [RCV003154827] Chr12:176047..34179852 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
NM_001975.3(ENO2):c.352G>A (p.Val118Met) single nucleotide variant not specified [RCV004340849] Chr12:6917622 [GRCh38]
Chr12:7026786 [GRCh37]
Chr12:12p13.31
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4927
Count of miRNA genes:959
Interacting mature miRNAs:1222
Transcripts:ENST00000229277, ENST00000441285, ENST00000534977, ENST00000535275, ENST00000535366, ENST00000536199, ENST00000537688, ENST00000537838, ENST00000538763, ENST00000539713, ENST00000541477, ENST00000542509, ENST00000543975, ENST00000544774, ENST00000545045
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
407286922GWAS935898_Hgamma-enolase measurement QTL GWAS935898 (human)2e-37gamma-enolase measurement1269173686917369Human

Markers in Region
D12S1899  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37127,032,183 - 7,032,336UniSTSGRCh37
Build 36126,902,444 - 6,902,597RGDNCBI36
Celera128,650,799 - 8,650,952RGD
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map12p13UniSTS
HuRef126,888,197 - 6,888,350UniSTS
Stanford-G3 RH Map12437.0UniSTS
NCBI RH Map12125.4UniSTS
GeneMap99-G3 RH Map12437.0UniSTS
SHGC-58828  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37127,032,504 - 7,032,595UniSTSGRCh37
Build 36126,902,765 - 6,902,856RGDNCBI36
Celera128,651,120 - 8,651,211RGD
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map12p13UniSTS
HuRef126,888,518 - 6,888,609UniSTS
TNG Radiation Hybrid Map739451.0UniSTS
GDB:214837  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37127,028,209 - 7,028,784UniSTSGRCh37
Build 36126,898,470 - 6,899,045RGDNCBI36
Celera128,646,824 - 8,647,399RGD
Cytogenetic Map12p13UniSTS
HuRef126,884,180 - 6,884,755UniSTS
GDB:384728  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37127,031,505 - 7,031,647UniSTSGRCh37
Build 36126,901,766 - 6,901,908RGDNCBI36
Celera128,650,121 - 8,650,263RGD
Cytogenetic Map12p13UniSTS
HuRef126,887,519 - 6,887,661UniSTS
ENO2_37  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37127,032,168 - 7,032,994UniSTSGRCh37
Build 36126,902,429 - 6,903,255RGDNCBI36
Celera128,650,784 - 8,651,610RGD
HuRef126,888,182 - 6,889,008UniSTS
STS-U72508  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37127,023,232 - 7,023,378UniSTSGRCh37
Build 36126,893,493 - 6,893,639RGDNCBI36
Celera128,641,845 - 8,641,991RGD
Cytogenetic Map12p13UniSTS
HuRef126,879,081 - 6,879,227UniSTS
GeneMap99-GB4 RH Map1245.21UniSTS
NCBI RH Map1294.1UniSTS
G10506  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37127,032,410 - 7,032,624UniSTSGRCh37
Build 36126,902,671 - 6,902,885RGDNCBI36
Celera128,651,026 - 8,651,240RGD
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map12p13UniSTS
HuRef126,888,424 - 6,888,638UniSTS


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 2439 2788 2252 4973 1726 2351 6 622 1951 465 2269 7304 6471 53 3734 852 1744 1616 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK124656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR536582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU794607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC893847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF511186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M22349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M36768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U47924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X13120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X14327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X51956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y00691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000229277   ⟹   ENSP00000229277
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,914,580 - 6,923,697 (+)Ensembl
Ensembl Acc Id: ENST00000441285
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,917,329 - 6,918,150 (+)Ensembl
Ensembl Acc Id: ENST00000534977
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,921,989 - 6,922,918 (+)Ensembl
Ensembl Acc Id: ENST00000535275   ⟹   ENSP00000476096
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,919,574 - 6,922,810 (+)Ensembl
Ensembl Acc Id: ENST00000535366   ⟹   ENSP00000437402
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,915,207 - 6,923,696 (+)Ensembl
Ensembl Acc Id: ENST00000536199
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,914,557 - 6,916,812 (+)Ensembl
Ensembl Acc Id: ENST00000537688   ⟹   ENSP00000445788
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,913,745 - 6,917,107 (+)Ensembl
Ensembl Acc Id: ENST00000537838
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,914,538 - 6,916,735 (+)Ensembl
Ensembl Acc Id: ENST00000538763   ⟹   ENSP00000441490
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,914,589 - 6,923,184 (+)Ensembl
Ensembl Acc Id: ENST00000539713
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,914,594 - 6,917,259 (+)Ensembl
Ensembl Acc Id: ENST00000541477   ⟹   ENSP00000438873
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,914,327 - 6,923,696 (+)Ensembl
Ensembl Acc Id: ENST00000542509
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,914,597 - 6,917,709 (+)Ensembl
Ensembl Acc Id: ENST00000543975   ⟹   ENSP00000476112
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,921,581 - 6,922,885 (+)Ensembl
Ensembl Acc Id: ENST00000545045   ⟹   ENSP00000438062
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,914,610 - 6,923,698 (+)Ensembl
RefSeq Acc Id: NM_001975   ⟹   NP_001966
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,914,580 - 6,923,697 (+)NCBI
GRCh37127,023,614 - 7,032,860 (+)NCBI
Build 36126,893,875 - 6,903,120 (+)NCBI Archive
HuRef126,879,463 - 6,888,873 (+)ENTREZGENE
CHM1_1127,022,496 - 7,031,732 (+)NCBI
T2T-CHM13v2.0126,925,760 - 6,934,876 (+)NCBI
Sequence:
RefSeq Acc Id: NP_001966   ⟸   NM_001975
- UniProtKB: B7Z2X9 (UniProtKB/Swiss-Prot),   Q96J33 (UniProtKB/Swiss-Prot),   P09104 (UniProtKB/Swiss-Prot),   Q6FHV6 (UniProtKB/TrEMBL),   A8K3B0 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000438873   ⟸   ENST00000541477
Ensembl Acc Id: ENSP00000476112   ⟸   ENST00000543975
Ensembl Acc Id: ENSP00000229277   ⟸   ENST00000229277
Ensembl Acc Id: ENSP00000438062   ⟸   ENST00000545045
Ensembl Acc Id: ENSP00000437402   ⟸   ENST00000535366
Ensembl Acc Id: ENSP00000476096   ⟸   ENST00000535275
Ensembl Acc Id: ENSP00000445788   ⟸   ENST00000537688
Ensembl Acc Id: ENSP00000441490   ⟸   ENST00000538763
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P09104-F1-model_v2 AlphaFold P09104 1-434 view protein structure

Promoters
RGD ID:6789892
Promoter ID:HG_KWN:14866
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:UC001QRV.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36126,893,711 - 6,895,147 (+)MPROMDB
RGD ID:6789890
Promoter ID:HG_KWN:14865
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001975,   UC009ZFI.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36126,893,716 - 6,894,216 (+)MPROMDB
RGD ID:7222977
Promoter ID:EPDNEW_H17234
Type:initiation region
Name:ENO2_2
Description:enolase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17235  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,914,438 - 6,914,498EPDNEW
RGD ID:7222979
Promoter ID:EPDNEW_H17235
Type:initiation region
Name:ENO2_1
Description:enolase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17234  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,914,583 - 6,914,643EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3353 AgrOrtholog
COSMIC ENO2 COSMIC
Ensembl Genes ENSG00000111674 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000229277 ENTREZGENE
  ENST00000229277.6 UniProtKB/Swiss-Prot
  ENST00000535275.5 UniProtKB/TrEMBL
  ENST00000535366.5 UniProtKB/Swiss-Prot
  ENST00000537688.5 UniProtKB/TrEMBL
  ENST00000538763.5 UniProtKB/Swiss-Prot
  ENST00000541477.5 UniProtKB/Swiss-Prot
  ENST00000543975.1 UniProtKB/TrEMBL
  ENST00000545045.6 UniProtKB/TrEMBL
Gene3D-CATH 3.20.20.120 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.390.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000111674 GTEx
HGNC ID HGNC:3353 ENTREZGENE
Human Proteome Map ENO2 Human Proteome Map
InterPro Enolase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Enolase-like_C_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Enolase-like_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Enolase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Enolase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Enolase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2026 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2026 ENTREZGENE
OMIM 131360 OMIM
PANTHER GAMMA-ENOLASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11902 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Enolase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Enolase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27788 PharmGKB
PIRSF Enolase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS ENOLASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ENOLASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Enolase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Enolase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF51604 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF54826 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K3B0 ENTREZGENE, UniProtKB/TrEMBL
  B7Z2X9 ENTREZGENE
  ENOG_HUMAN UniProtKB/Swiss-Prot
  F5H0C8_HUMAN UniProtKB/TrEMBL
  F5H1C3_HUMAN UniProtKB/TrEMBL
  P09104 ENTREZGENE
  Q6FHV6 ENTREZGENE, UniProtKB/TrEMBL
  Q96J33 ENTREZGENE
  U3KQP4_HUMAN UniProtKB/TrEMBL
  U3KQQ1_HUMAN UniProtKB/TrEMBL
UniProt Secondary B7Z2X9 UniProtKB/Swiss-Prot
  Q96J33 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-03 ENO2  enolase 2  ENO2  enolase 2 (gamma, neuronal)  Symbol and/or name change 5135510 APPROVED