EDN2 (endothelin 2) - Rat Genome Database

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Gene: EDN2 (endothelin 2) Homo sapiens
Analyze
Symbol: EDN2
Name: endothelin 2
RGD ID: 737548
HGNC Page HGNC:3177
Description: Enables endothelin B receptor binding activity and hormone activity. Involved in several processes, including leukocyte chemotaxis; positive regulation of prostaglandin-endoperoxide synthase activity; and vascular associated smooth muscle contraction. Located in extracellular space. Implicated in hypertension. Biomarker of hypertension; pre-eclampsia; and pulmonary hypertension.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: endothelin-2; ET-2; ET2; PPET2; preproendothelin 2; preproendothelin-2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Candidate Gene For: Bp359
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38141,478,775 - 41,484,683 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl141,478,775 - 41,484,683 (-)EnsemblGRCh38hg38GRCh38
GRCh37141,944,446 - 41,950,354 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36141,717,033 - 41,722,884 (-)NCBINCBI36Build 36hg18NCBI36
Build 34141,613,539 - 41,619,390NCBI
Celera140,227,695 - 40,233,596 (-)NCBICelera
Cytogenetic Map1p34.2NCBI
HuRef140,062,640 - 40,068,539 (-)NCBIHuRef
CHM1_1142,060,834 - 42,066,733 (-)NCBICHM1_1
T2T-CHM13v2.0141,348,976 - 41,370,636 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (EXP,ISO)
17beta-estradiol  (EXP,ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
afimoxifene  (EXP)
all-trans-retinoic acid  (EXP,ISO)
ammonium chloride  (ISO)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
aspartame  (EXP)
Azoxymethane  (ISO)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
BQ 123  (ISO)
butanal  (EXP)
Butylbenzyl phthalate  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (EXP)
calcium atom  (ISO)
calcium(0)  (ISO)
cisplatin  (EXP)
cobalt atom  (EXP)
cobalt dichloride  (EXP,ISO)
copper(II) chloride  (EXP)
corticosterone  (ISO)
cyclosporin A  (EXP)
dextran sulfate  (ISO)
dibutyl phthalate  (ISO)
diclofenac  (ISO)
diethyl phthalate  (ISO)
diisobutyl phthalate  (ISO)
diisononyl phthalate  (ISO)
dimethyl sulfoxide  (EXP)
dioxygen  (ISO)
ethanol  (ISO)
fenvalerate  (ISO)
folic acid  (EXP)
gemcitabine  (EXP)
genistein  (EXP,ISO)
hydroquinone  (EXP)
ibuprofen  (ISO)
lead diacetate  (EXP)
mifepristone  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
naphthalene  (ISO)
nickel dichloride  (EXP)
paracetamol  (EXP,ISO)
pentanal  (EXP)
perfluorohexanesulfonic acid  (ISO)
pirinixic acid  (ISO)
propanal  (EXP)
resveratrol  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
sodium arsenite  (EXP,ISO)
tamibarotene  (EXP)
tetrachloromethane  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
tricetin  (EXP)
trichloroethene  (ISO)
Tungsten carbide  (EXP)
ursodeoxycholic acid  (EXP)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
angiogenesis  (IEA)
artery smooth muscle contraction  (IDA)
axon extension  (IEA)
blood vessel diameter maintenance  (IEA)
cell surface receptor signaling pathway  (IC)
cell tip growth  (IEA)
cytokine-mediated signaling pathway  (IDA)
endothelial cell migration  (IEA)
energy homeostasis  (IEA)
hormonal regulation of the force of heart contraction  (TAS)
intracellular calcium ion homeostasis  (IBA)
lung alveolus development  (IEA)
macrophage activation  (IDA)
macrophage chemotaxis  (IDA)
negative regulation of hormone secretion  (ISO)
neuron projection development  (IEA)
neutrophil chemotaxis  (IDA)
ovarian follicle rupture  (ISO)
phospholipase C-activating G protein-coupled receptor signaling pathway  (ISO)
positive regulation of calcium-mediated signaling  (IDA)
positive regulation of cell population proliferation  (IDA)
positive regulation of heart rate  (IDA)
positive regulation of hormone secretion  (ISO)
positive regulation of leukocyte chemotaxis  (IDA)
positive regulation of prostaglandin-endoperoxide synthase activity  (IMP)
positive regulation of smooth muscle contraction  (IBA,IEA,ISO)
positive regulation of the force of heart contraction by chemical signal  (TAS)
prostaglandin biosynthetic process  (IDA,IEA)
regulation of systemic arterial blood pressure by endothelin  (IBA,IDA)
regulation of vasoconstriction  (IEA)
smooth muscle contraction  (IEA)
temperature homeostasis  (IEA)
vasculature development  (IEA)
vasoconstriction  (IDA,IEA)
vein smooth muscle contraction  (IBA,IDA)

Cellular Component
extracellular region  (IEA,TAS)
extracellular space  (IBA,IDA,ISO)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Association between diastolic blood pressure and variants of the endothelin-1 and endothelin-2 genes. Brown MJ, etal., J Cardiovasc Pharmacol. 2000;35(4 Suppl 2):S41-43.
2. Endothelin release during ischaemia and reperfusion of isolated perfused rat hearts. Brunner F, etal., J Mol Cell Cardiol. 1992 Nov;24(11):1291-305.
3. Broadly altered gene expression in blood leukocytes in essential hypertension is absent during treatment. Chon H, etal., Hypertension. 2004 May;43(5):947-51. Epub 2004 Mar 8.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. Myocardial expression of endothelin-2 is altered reciprocally to that of endothelin-1 during ischemia of cardiomyocytes in vitro and during heart failure in vivo. Kakinuma Y, etal., Life Sci. 1999;65(16):1671-83.
6. Serum level of endothelin-1 and -2 in pregnancies complicated by EPH gestosis. Leszczynska-Gorzelak B, etal., Gynecol Obstet Invest. 1997;43(1):37-40.
7. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
8. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
9. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
10. [Plasma concentrations of endothelin-1 and endothelin-2 in patients with pulmonary hypertension] Salomon P, etal., Pol Merkuriusz Lek. 1999 Sep;7(39):111-3.
11. Quantitative association between a newly identified molecular variant in the endothelin-2 gene and human essential hypertension. Sharma P, etal., J Hypertens. 1999 Sep;17(9):1281-7.
12. Plasma endothelin in patients with acute aortic disease. Wagner A, etal., Resuscitation. 2002 Apr;53(1):71-6.
Additional References at PubMed
PMID:1345052   PMID:1446139   PMID:1652300   PMID:1701397   PMID:1725334   PMID:1725387   PMID:1816758   PMID:1840558   PMID:1917960   PMID:2018043   PMID:2201681   PMID:2649896  
PMID:7509938   PMID:7509960   PMID:8323558   PMID:8345469   PMID:8671207   PMID:8697704   PMID:8821821   PMID:8982507   PMID:9085198   PMID:9164966   PMID:9284755   PMID:9422810  
PMID:9492062   PMID:9588179   PMID:9675146   PMID:9696419   PMID:9826183   PMID:10438732   PMID:10494802   PMID:10750028   PMID:11187978   PMID:12184531   PMID:12207323   PMID:12477932  
PMID:12516960   PMID:15059899   PMID:15489334   PMID:15619356   PMID:15691296   PMID:16493522   PMID:16714215   PMID:16754659   PMID:16879056   PMID:17445867   PMID:17997104   PMID:18037749  
PMID:18818748   PMID:19019335   PMID:19336370   PMID:19527488   PMID:19527514   PMID:19913121   PMID:20028935   PMID:20140262   PMID:20628086   PMID:21873635   PMID:22047647   PMID:22727793  
PMID:22865632   PMID:22921304   PMID:23518706   PMID:24043815   PMID:24647318   PMID:24763822   PMID:34360981   PMID:35679618  


Genomics

Comparative Map Data
EDN2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38141,478,775 - 41,484,683 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl141,478,775 - 41,484,683 (-)EnsemblGRCh38hg38GRCh38
GRCh37141,944,446 - 41,950,354 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36141,717,033 - 41,722,884 (-)NCBINCBI36Build 36hg18NCBI36
Build 34141,613,539 - 41,619,390NCBI
Celera140,227,695 - 40,233,596 (-)NCBICelera
Cytogenetic Map1p34.2NCBI
HuRef140,062,640 - 40,068,539 (-)NCBIHuRef
CHM1_1142,060,834 - 42,066,733 (-)NCBICHM1_1
T2T-CHM13v2.0141,348,976 - 41,370,636 (-)NCBIT2T-CHM13v2.0
Edn2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394120,018,403 - 120,024,557 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl4120,018,403 - 120,024,557 (+)EnsemblGRCm39 Ensembl
GRCm384120,161,206 - 120,167,360 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4120,161,206 - 120,167,360 (+)EnsemblGRCm38mm10GRCm38
MGSCv374119,834,029 - 119,839,965 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv364119,659,068 - 119,664,996 (+)NCBIMGSCv36mm8
Celera4118,876,990 - 118,882,911 (+)NCBICelera
Cytogenetic Map4D2.1NCBI
cM Map455.77NCBI
Edn2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85139,036,576 - 139,042,074 (+)NCBIGRCr8
mRatBN7.25133,751,316 - 133,756,814 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5133,751,217 - 133,756,814 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx5136,479,131 - 136,484,624 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.05138,235,562 - 138,241,057 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.05138,256,179 - 138,261,668 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.05139,098,472 - 139,106,396 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5139,100,898 - 139,105,792 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05142,891,221 - 142,896,115 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45140,742,686 - 140,747,580 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.15140,747,827 - 140,753,399 (+)NCBI
Celera5132,309,615 - 132,315,113 (+)NCBICelera
Cytogenetic Map5q36NCBI
Edn2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555371,228,070 - 1,233,797 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555371,228,062 - 1,233,784 (-)NCBIChiLan1.0ChiLan1.0
EDN2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21185,326,860 - 185,334,257 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11184,468,920 - 184,476,318 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0140,777,582 - 40,783,410 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1142,092,811 - 42,098,721 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl142,092,811 - 42,098,721 (-)Ensemblpanpan1.1panPan2
EDN2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1151,647,966 - 1,654,272 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl151,648,077 - 1,654,272 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha151,906,346 - 1,911,819 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0151,736,878 - 1,742,351 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl151,736,155 - 1,742,351 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1151,643,415 - 1,648,886 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0151,703,305 - 1,708,777 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0151,718,751 - 1,724,224 (+)NCBIUU_Cfam_GSD_1.0
Edn2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505857,236,189 - 57,239,728 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647423,060,905 - 23,064,566 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647423,061,219 - 23,064,525 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EDN2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl6169,744,568 - 169,758,283 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.16169,751,956 - 169,758,011 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
EDN2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12091,425,979 - 91,432,609 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2091,426,747 - 91,431,973 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603325,447,580 - 25,453,538 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Edn2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624892870,259 - 877,387 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624892861,976 - 879,044 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in EDN2
13 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1p34.2-34.1(chr1:40693289-44514104)x1 copy number loss See cases [RCV000050706] Chr1:40693289..44514104 [GRCh38]
Chr1:41158961..44979776 [GRCh37]
Chr1:40931548..44752363 [NCBI36]
Chr1:1p34.2-34.1		 pathogenic
GRCh38/hg38 1p34.3-33(chr1:39479787-47688131)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051817]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051817]|See cases [RCV000051817] Chr1:39479787..47688131 [GRCh38]
Chr1:39945459..48153803 [GRCh37]
Chr1:39718046..47926390 [NCBI36]
Chr1:1p34.3-33		 pathogenic
GRCh38/hg38 1p34.3-34.1(chr1:38222737-45636176)x3 copy number gain See cases [RCV000051803] Chr1:38222737..45636176 [GRCh38]
Chr1:38688409..46101848 [GRCh37]
Chr1:38460996..45874435 [NCBI36]
Chr1:1p34.3-34.1		 pathogenic
GRCh38/hg38 1p34.3-34.2(chr1:38108665-42327551)x1 copy number loss See cases [RCV000053805] Chr1:38108665..42327551 [GRCh38]
Chr1:38574337..42793222 [GRCh37]
Chr1:38346924..42565809 [NCBI36]
Chr1:1p34.3-34.2		 pathogenic
GRCh38/hg38 1p34.2-34.1(chr1:40462415-44668040)x1 copy number loss See cases [RCV000053837] Chr1:40462415..44668040 [GRCh38]
Chr1:40928087..45133712 [GRCh37]
Chr1:40700674..44906299 [NCBI36]
Chr1:1p34.2-34.1		 pathogenic
NM_001956.4(EDN2):c.*35C>T single nucleotide variant Malignant melanoma [RCV000064766] Chr1:41479374 [GRCh38]
Chr1:41945045 [GRCh37]
Chr1:41717632 [NCBI36]
Chr1:1p34.2		 not provided
GRCh37/hg19 1p34.2(chr1:41343608-43121507)x1 copy number loss See cases [RCV000234876] Chr1:41343608..43121507 [GRCh37]
Chr1:1p34.2		 likely pathogenic
GRCh38/hg38 1p34.2(chr1:40834404-43123071)x1 copy number loss See cases [RCV000142267] Chr1:40834404..43123071 [GRCh38]
Chr1:41300076..43588742 [GRCh37]
Chr1:41072663..43361329 [NCBI36]
Chr1:1p34.2		 pathogenic
GRCh37/hg19 1p34.2(chr1:40944820-42213560)x1 copy number loss See cases [RCV000240178] Chr1:40944820..42213560 [GRCh37]
Chr1:1p34.2		 uncertain significance
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12		 likely benign
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NC_000001.10:g.(?_33241563)_(46663513_?)dup duplication Charcot-Marie-Tooth disease dominant intermediate C [RCV000708276] Chr1:33241563..46663513 [GRCh37]
Chr1:1p35.1-34.1		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p34.2(chr1:41748424-42021616)x1 copy number loss not provided [RCV000748963] Chr1:41748424..42021616 [GRCh37]
Chr1:1p34.2		 benign
NM_001956.5(EDN2):c.355G>C (p.Gly119Arg) single nucleotide variant not specified [RCV004293548] Chr1:41481183 [GRCh38]
Chr1:41946854 [GRCh37]
Chr1:1p34.2		 likely benign
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1		 uncertain significance
NM_001956.5(EDN2):c.520A>G (p.Arg174Gly) single nucleotide variant not specified [RCV004316645] Chr1:41479426 [GRCh38]
Chr1:41945097 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_001956.5(EDN2):c.345-4G>A single nucleotide variant not provided [RCV000889337] Chr1:41481197 [GRCh38]
Chr1:41946868 [GRCh37]
Chr1:1p34.2		 benign
NC_000001.10:g.(?_33241563)_(46663513_?)dup duplication Charcot-Marie-Tooth disease, dominant intermediate C [RCV001308684] Chr1:33241563..46663513 [GRCh37]
Chr1:1p35.1-34.1		 uncertain significance
GRCh37/hg19 1p34.3-34.2(chr1:38679545-42556292) copy number loss not specified [RCV002053269] Chr1:38679545..42556292 [GRCh37]
Chr1:1p34.3-34.2		 likely pathogenic
GRCh37/hg19 1p35.1-33(chr1:33285582-47891811) copy number gain not specified [RCV002052781] Chr1:33285582..47891811 [GRCh37]
Chr1:1p35.1-33		 pathogenic
NM_001956.5(EDN2):c.422G>A (p.Gly141Glu) single nucleotide variant not specified [RCV004299193] Chr1:41481116 [GRCh38]
Chr1:41946787 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_001956.5(EDN2):c.116C>T (p.Ala39Val) single nucleotide variant not specified [RCV004259741] Chr1:41484152 [GRCh38]
Chr1:41949823 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_001956.5(EDN2):c.49G>A (p.Val17Met) single nucleotide variant not specified [RCV004339062] Chr1:41484553 [GRCh38]
Chr1:41950224 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_001956.5(EDN2):c.292T>C (p.Cys98Arg) single nucleotide variant not specified [RCV004351578] Chr1:41482518 [GRCh38]
Chr1:41948189 [GRCh37]
Chr1:1p34.2		 uncertain significance
Single allele inversion Bilateral polymicrogyria [RCV003459046] Chr1:33246132..61045156 [GRCh38]
Chr1:1p35.1-31.3		 likely pathogenic
GRCh37/hg19 1p34.2(chr1:40688246-42630383)x1 copy number loss not provided [RCV003885447] Chr1:40688246..42630383 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_001956.5(EDN2):c.313G>A (p.Ala105Thr) single nucleotide variant not specified [RCV004384558] Chr1:41482497 [GRCh38]
Chr1:41948168 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_001956.5(EDN2):c.496C>T (p.Arg166Trp) single nucleotide variant not specified [RCV004384560] Chr1:41479450 [GRCh38]
Chr1:41945121 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_001956.5(EDN2):c.501G>T (p.Glu167Asp) single nucleotide variant not specified [RCV004384561] Chr1:41479445 [GRCh38]
Chr1:41945116 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_001956.5(EDN2):c.506G>A (p.Arg169Gln) single nucleotide variant not specified [RCV004617629] Chr1:41479440 [GRCh38]
Chr1:41945111 [GRCh37]
Chr1:1p34.2		 uncertain significance
NM_001956.5(EDN2):c.125C>T (p.Thr42Ile) single nucleotide variant not specified [RCV004909667] Chr1:41484143 [GRCh38]
Chr1:41949814 [GRCh37]
Chr1:1p34.2		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:1577
Count of miRNA genes:615
Interacting mature miRNAs:684
Transcripts:ENST00000372587, ENST00000460255, ENST00000467046, ENST00000467872, ENST00000490783
Prediction methods:Microtar, Miranda, Rnahybrid
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.

Markers in Region
EDN2_27  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37141,944,347 - 41,945,096UniSTSGRCh37
Build 36141,716,934 - 41,717,683RGDNCBI36
Celera140,227,596 - 40,228,345RGD
HuRef140,062,541 - 40,063,290UniSTS
SHGC-74658  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37141,944,468 - 41,944,693UniSTSGRCh37
Build 36141,717,055 - 41,717,280RGDNCBI36
Celera140,227,717 - 40,227,942RGD
Cytogenetic Map1p34UniSTS
HuRef140,062,662 - 40,062,887UniSTS
TNG Radiation Hybrid Map120203.0UniSTS
GeneMap99-GB4 RH Map1125.15UniSTS


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
901 2374 2427 1989 3645 1611 2251 5 569 1108 411 1951 5820 5035 34 2544 838 1679 1570 173 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001302269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_126098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000512 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001737015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AL445933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW452560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY518541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC034393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI761655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY177176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M25550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M65199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S63516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S63833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S63834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S63835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S63836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S63837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S63838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X55177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000372587   ⟹   ENSP00000361668
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl141,478,775 - 41,484,683 (-)Ensembl
Ensembl Acc Id: ENST00000460255
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl141,479,454 - 41,484,085 (-)Ensembl
Ensembl Acc Id: ENST00000467046
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl141,479,454 - 41,484,085 (-)Ensembl
Ensembl Acc Id: ENST00000467872
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl141,479,454 - 41,484,085 (-)Ensembl
Ensembl Acc Id: ENST00000490783
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl141,479,127 - 41,484,673 (-)Ensembl
RefSeq Acc Id: NM_001302269   ⟹   NP_001289198
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38141,478,775 - 41,484,683 (-)NCBI
CHM1_1142,060,834 - 42,066,743 (-)NCBI
T2T-CHM13v2.0141,348,976 - 41,354,889 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001956   ⟹   NP_001947
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38141,478,775 - 41,484,683 (-)NCBI
GRCh37141,944,446 - 41,950,348 (-)NCBI
Build 36141,717,033 - 41,722,884 (-)NCBI Archive
HuRef140,062,640 - 40,068,539 (-)ENTREZGENE
CHM1_1142,060,834 - 42,066,743 (-)NCBI
T2T-CHM13v2.0141,348,976 - 41,354,889 (-)NCBI
Sequence:
RefSeq Acc Id: NR_126098
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38141,478,775 - 41,484,683 (-)NCBI
CHM1_1142,060,834 - 42,066,743 (-)NCBI
T2T-CHM13v2.0141,348,976 - 41,354,889 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017000512   ⟹   XP_016856001
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38141,478,775 - 41,484,683 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054334817   ⟹   XP_054190792
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0141,348,976 - 41,370,636 (-)NCBI
RefSeq Acc Id: XM_054334818   ⟹   XP_054190793
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0141,348,976 - 41,354,889 (-)NCBI
RefSeq Acc Id: XR_001737015
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38141,478,775 - 41,484,683 (-)NCBI
Sequence:
RefSeq Acc Id: XR_008485946
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0141,348,976 - 41,354,889 (-)NCBI
RefSeq Acc Id: NP_001947   ⟸   NM_001956
- Peptide Label: isoform 1 preproprotein
- UniProtKB: Q5T1R3 (UniProtKB/Swiss-Prot),   P20800 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001289198   ⟸   NM_001302269
- Peptide Label: isoform 2 preproprotein
- UniProtKB: P20800 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016856001   ⟸   XM_017000512
- Peptide Label: isoform X1
- Sequence:
Ensembl Acc Id: ENSP00000361668   ⟸   ENST00000372587
RefSeq Acc Id: XP_054190792   ⟸   XM_054334817
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054190793   ⟸   XM_054334818
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P20800-F1-model_v2 AlphaFold P20800 1-178 view protein structure

Promoters
RGD ID:6855152
Promoter ID:EPDNEW_H741
Type:initiation region
Name:EDN2_1
Description:endothelin 2
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
GRCh38141,484,683 - 41,484,743EPDNEW
RGD ID:6785093
Promoter ID:HG_KWN:2264
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000016983,   OTTHUMT00000016987,   UC001CGU.1,   UC001CGV.1,   UC001CGW.1,   UC009VWH.1,   UC009VWI.1,   UC009VWJ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36141,722,606 - 41,723,106 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3177 AgrOrtholog
COSMIC EDN2 COSMIC
Ensembl Genes ENSG00000127129 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000372587 ENTREZGENE
  ENST00000372587.5 UniProtKB/Swiss-Prot
GTEx ENSG00000127129 GTEx
HGNC ID HGNC:3177 ENTREZGENE
Human Proteome Map EDN2 Human Proteome Map
InterPro Endothelin UniProtKB/Swiss-Prot
  Endothelin_toxin_CS UniProtKB/Swiss-Prot
  Endothln-like_toxin UniProtKB/Swiss-Prot
KEGG Report hsa:1907 UniProtKB/Swiss-Prot
NCBI Gene 1907 ENTREZGENE
OMIM 131241 OMIM
PANTHER PTHR13874 UniProtKB/Swiss-Prot
  PTHR13874:SF9 UniProtKB/Swiss-Prot
Pfam Endothelin UniProtKB/Swiss-Prot
PharmGKB PA27615 PharmGKB
PRINTS ENDOTHELIN UniProtKB/Swiss-Prot
PROSITE ENDOTHELIN UniProtKB/Swiss-Prot
SMART END UniProtKB/Swiss-Prot
UniProt EDN2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q5T1R3 ENTREZGENE
UniProt Secondary Q5T1R3 UniProtKB/Swiss-Prot