EDN2 (endothelin 2)

Gene

• Entrez ID: 1907
• Gene name: Endothelin 2
• Gene symbol: EDN2
• Synonyms (NCBI Gene): ET-2, ET2, PPET2
• Chromosome: 1
• Chromosome location: 1p34.2
• Summary: This gene encodes a member of the endothelin protein family of secretory vasoconstrictive peptides. The preproprotein is processed to a short mature form which functions as a ligand for the endothelin receptors that initiate intracellular signaling events

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT030221	hsa-miR-26b-5p	Microarray	19088304
MIRT717371	hsa-miR-6779-3p	HITS-CLIP	19536157
MIRT717370	hsa-miR-5193	HITS-CLIP	19536157
MIRT717369	hsa-miR-660-3p	HITS-CLIP	19536157
MIRT717368	hsa-miR-3183	HITS-CLIP	19536157
MIRT717367	hsa-miR-4723-3p	HITS-CLIP	19536157
MIRT717366	hsa-miR-6769b-3p	HITS-CLIP	19536157
MIRT717365	hsa-miR-6845-3p	HITS-CLIP	19536157
MIRT717364	hsa-miR-3190-5p	HITS-CLIP	19536157
MIRT717363	hsa-miR-942-5p	HITS-CLIP	19536157
MIRT717362	hsa-miR-7111-3p	HITS-CLIP	19536157
MIRT717360	hsa-miR-4279	HITS-CLIP	19536157
MIRT717361	hsa-miR-6873-3p	HITS-CLIP	19536157
MIRT717359	hsa-miR-4701-5p	HITS-CLIP	19536157
MIRT717358	hsa-miR-588	HITS-CLIP	19536157
MIRT717357	hsa-miR-4768-5p	HITS-CLIP	19536157
MIRT717356	hsa-miR-6833-3p	HITS-CLIP	19536157
MIRT717355	hsa-miR-1281	HITS-CLIP	19536157
MIRT717354	hsa-miR-6740-3p	HITS-CLIP	19536157
MIRT717353	hsa-miR-6880-3p	HITS-CLIP	19536157
MIRT717352	hsa-miR-6886-3p	HITS-CLIP	19536157
MIRT717371	hsa-miR-6779-3p	HITS-CLIP	19536157
MIRT717370	hsa-miR-5193	HITS-CLIP	19536157
MIRT717369	hsa-miR-660-3p	HITS-CLIP	19536157
MIRT717368	hsa-miR-3183	HITS-CLIP	19536157
MIRT717367	hsa-miR-4723-3p	HITS-CLIP	19536157
MIRT717366	hsa-miR-6769b-3p	HITS-CLIP	19536157
MIRT717365	hsa-miR-6845-3p	HITS-CLIP	19536157
MIRT717364	hsa-miR-3190-5p	HITS-CLIP	19536157
MIRT717363	hsa-miR-942-5p	HITS-CLIP	19536157
MIRT717362	hsa-miR-7111-3p	HITS-CLIP	19536157
MIRT717360	hsa-miR-4279	HITS-CLIP	19536157
MIRT717361	hsa-miR-6873-3p	HITS-CLIP	19536157
MIRT717359	hsa-miR-4701-5p	HITS-CLIP	19536157
MIRT717358	hsa-miR-588	HITS-CLIP	19536157
MIRT717357	hsa-miR-4768-5p	HITS-CLIP	19536157
MIRT717356	hsa-miR-6833-3p	HITS-CLIP	19536157
MIRT717355	hsa-miR-1281	HITS-CLIP	19536157
MIRT717354	hsa-miR-6740-3p	HITS-CLIP	19536157
MIRT717353	hsa-miR-6880-3p	HITS-CLIP	19536157
MIRT717352	hsa-miR-6886-3p	HITS-CLIP	19536157
MIRT1982115	hsa-miR-3150a-3p	CLIP-seq
MIRT1982116	hsa-miR-3153	CLIP-seq
MIRT1982117	hsa-miR-3175	CLIP-seq
MIRT1982118	hsa-miR-320a	CLIP-seq
MIRT1982119	hsa-miR-320b	CLIP-seq
MIRT1982120	hsa-miR-320c	CLIP-seq
MIRT1982121	hsa-miR-320d	CLIP-seq
MIRT1982122	hsa-miR-320e	CLIP-seq
MIRT1982123	hsa-miR-326	CLIP-seq
MIRT1982124	hsa-miR-330-5p	CLIP-seq
MIRT1982125	hsa-miR-3667-3p	CLIP-seq
MIRT1982126	hsa-miR-4429	CLIP-seq
MIRT1982127	hsa-miR-4511	CLIP-seq
MIRT1982128	hsa-miR-4667-5p	CLIP-seq
MIRT1982129	hsa-miR-4680-5p	CLIP-seq
MIRT1982130	hsa-miR-4700-5p	CLIP-seq
MIRT1982131	hsa-miR-4728-5p	CLIP-seq
MIRT1982132	hsa-miR-516a-3p	CLIP-seq
MIRT1982133	hsa-miR-637	CLIP-seq
MIRT1982134	hsa-miR-939	CLIP-seq
MIRT2216954	hsa-miR-1197	CLIP-seq
MIRT1982115	hsa-miR-3150a-3p	CLIP-seq
MIRT1982116	hsa-miR-3153	CLIP-seq
MIRT1982117	hsa-miR-3175	CLIP-seq
MIRT1982118	hsa-miR-320a	CLIP-seq
MIRT1982119	hsa-miR-320b	CLIP-seq
MIRT1982120	hsa-miR-320c	CLIP-seq
MIRT1982121	hsa-miR-320d	CLIP-seq
MIRT1982122	hsa-miR-320e	CLIP-seq
MIRT1982123	hsa-miR-326	CLIP-seq
MIRT1982124	hsa-miR-330-5p	CLIP-seq
MIRT1982126	hsa-miR-4429	CLIP-seq
MIRT1982127	hsa-miR-4511	CLIP-seq
MIRT1982128	hsa-miR-4667-5p	CLIP-seq
MIRT1982129	hsa-miR-4680-5p	CLIP-seq
MIRT1982130	hsa-miR-4700-5p	CLIP-seq
MIRT1982131	hsa-miR-4728-5p	CLIP-seq
MIRT1982133	hsa-miR-637	CLIP-seq
MIRT1982134	hsa-miR-939	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001525	Process	Angiogenesis	IEA
GO:0001659	Process	Temperature homeostasis	IEA
GO:0001944	Process	Vasculature development	IEA
GO:0002690	Process	Positive regulation of leukocyte chemotaxis	IDA	9696419
GO:0003058	Process	Hormonal regulation of the force of heart contraction	TAS	1652300
GO:0003099	Process	Positive regulation of the force of heart contraction by chemical signal	TAS	1652300
GO:0003100	Process	Regulation of systemic arterial blood pressure by endothelin	IBA
GO:0003100	Process	Regulation of systemic arterial blood pressure by endothelin	IDA	2649896
GO:0005179	Function	Hormone activity	IBA
GO:0005179	Function	Hormone activity	IDA	2649896
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	15691296
GO:0006874	Process	Intracellular calcium ion homeostasis	IBA
GO:0006939	Process	Smooth muscle contraction	IEA
GO:0007166	Process	Cell surface receptor signaling pathway	IC	2649896
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	1917960
GO:0009932	Process	Cell tip growth	IEA
GO:0010460	Process	Positive regulation of heart rate	IDA	2649896
GO:0014824	Process	Artery smooth muscle contraction	IDA	8982507
GO:0014826	Process	Vein smooth muscle contraction	IBA
GO:0014826	Process	Vein smooth muscle contraction	IDA	8982507, 9422810
GO:0019221	Process	Cytokine-mediated signaling pathway	IDA	12207323
GO:0019229	Process	Regulation of vasoconstriction	IEA
GO:0030593	Process	Neutrophil chemotaxis	IDA	9696419
GO:0031175	Process	Neuron projection development	IEA
GO:0031394	Process	Positive regulation of prostaglandin biosynthetic process	IDA	9492062
GO:0031394	Process	Positive regulation of prostaglandin biosynthetic process	IEA
GO:0031708	Function	Endothelin B receptor binding	IBA
GO:0031708	Function	Endothelin B receptor binding	IPI
GO:0042116	Process	Macrophage activation	IDA	12207323
GO:0042310	Process	Vasoconstriction	IDA	2649896, 8982507
GO:0042310	Process	Vasoconstriction	IEA
GO:0043542	Process	Endothelial cell migration	IEA
GO:0045987	Process	Positive regulation of smooth muscle contraction	IBA
GO:0045987	Process	Positive regulation of smooth muscle contraction	IEA
GO:0048246	Process	Macrophage chemotaxis	IDA	12207323
GO:0048286	Process	Lung alveolus development	IEA
GO:0048675	Process	Axon extension	IEA
GO:0050850	Process	Positive regulation of calcium-mediated signaling	IDA	1917960
GO:0086100	Process	Endothelin receptor signaling pathway	IDA	9492062
GO:0086100	Process	Endothelin receptor signaling pathway	IEA
GO:0097009	Process	Energy homeostasis	IEA
GO:0097746	Process	Blood vessel diameter maintenance	IEA

Other IDs

• MIM: 131241
• HGNC: 3177
• e!Ensembl: ENSG00000127129

Protein

• UniProt ID: P20800
• Protein name: Endothelin-2 (ET-2) (Preproendothelin-2) (PPET2)
• Protein function: Endothelins are endothelium-derived vasoconstrictor peptides.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00322	Endothelin	45 → 73	Endothelin family	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Expressed in lung, but not in placental stem villi vessels or cultured placental villi smooth muscle cells. {ECO:0000269|PubMed:9284755}.
• Sequence:

  MVSVPTTWCSVALALLVALHEGKGQAAATLEQPASSSHAQGTHLRLRRCSCSSWLDKECV
  YFCHLDIIWVNTPEQTAPYGLGNPPRRRRRSLPRRCQCSSARDPACATFCLRRPWTEAGA
  VPSRKSPADVFQTGKTGATTGELLQRLRDISTVKSLFAKRQQEAMREPRSTHSRWRKR

• Sequence length: 178

Pathways

KEGG:

cAMP signaling pathway
Neuroactive ligand-receptor interaction
Vascular smooth muscle contraction
Renin secretion

Reactome:

Peptide ligand-binding receptors
G alpha (q) signalling events

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BRADYCARDIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTENSION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Asthma	Asthma	BEFREE	31629215		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	18037749		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	LHGDN	18037749		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	18037749	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	12207323	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	1701397, 22047647	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	18037749	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	18037749		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	LHGDN	18037749		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	18037749	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	30047329		★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	15619356		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	22865632		★☆☆☆☆ Found in Text Mining only
Eclampsia	Eclampsia	BEFREE	31486478		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	10489105		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	25366732	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	21383504		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	10489105, 10494802, 8587401		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	18037749		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	LHGDN	18037749		★☆☆☆☆ Found in Text Mining only
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	18037749		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	12207323	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	30047329		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	22865632		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	12516960		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	15059899		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19527488		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	22727793		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	22727793, 34360981	Inhibit	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	33197890	Associate	★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	7695628		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	29248456		★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	28041965		★☆☆☆☆ Found in Text Mining only
Sleep Apnea Obstructive	Sleep apnea	Pubtator	24010499	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	14612903	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	16879056		★☆☆☆☆ Found in Text Mining only