EDN2

endothelin 2, the group of Endothelins

Basic information

Region (hg38): 1:41478775-41484683

Links

ENSG00000127129 ∙ NCBI:1907 ∙ OMIM:131241 ∙ HGNC:3177 ∙ Uniprot:P20800 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the EDN2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EDN2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			8	1		9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding						0
Total	0	0	8	1	0

Variants in EDN2

This is a list of pathogenic ClinVar variants found in the EDN2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
1-41479426-T-C		not specified	Uncertain significance (May 05, 2023)
1-41479440-C-T		not specified	Uncertain significance (Mar 28, 2024)
1-41479445-C-A		not specified	Uncertain significance (Dec 28, 2023)
1-41479450-G-A		not specified	Uncertain significance (Dec 28, 2023)
1-41481116-C-T		not specified	Uncertain significance (Mar 24, 2023)
1-41481183-C-G		not specified	Likely benign (May 18, 2023)
1-41481197-C-T			Benign (Feb 16, 2018)
1-41482497-C-T		not specified	Uncertain significance (Jun 21, 2021)
1-41482518-A-G		not specified	Uncertain significance (Jul 05, 2023)
1-41484152-G-A		not specified	Uncertain significance (Mar 06, 2023)
1-41484553-C-T		not specified	Uncertain significance (Jun 29, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
EDN2	protein_coding	protein_coding	ENST00000372587	5	5899

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0603	0.875	125702	0	5	125707	0.0000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.129	108	112	0.966	0.00000727	1117
Missense in Polyphen		26	39.409	0.65975		385
Synonymous	0.789	37	43.6	0.848	0.00000264	382
Loss of Function	1.55	3	7.63	0.393	3.25e-7	86

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.0000993	0.0000993
East Asian	0.0000545	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000201	0.0000176
Middle Eastern	0.0000545	0.0000544
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Endothelins are endothelium-derived vasoconstrictor peptides.
• Pathway: Glucocorticoid Receptor Pathway;Nuclear Receptors Meta-Pathway;Signaling by GPCR;Signal Transduction;GPCR signaling-G alpha q;GPCR signaling-cholera toxin;GPCR signaling-pertussis toxin;Peptide ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;GPCR signaling-G alpha s Epac and ERK;GPCR signaling-G alpha s PKA and ERK;Direct p53 effectors;GPCR signaling-G alpha i;G alpha (q) signalling events;GPCR downstream signalling;Endothelins (Consensus)

Recessive Scores

• pRec: 0.232

Intolerance Scores

• loftool: 0.279
• rvis_EVS: -0.1
• rvis_percentile_EVS: 46.49

Haploinsufficiency Scores

• pHI: 0.210
• hipred: N
• hipred_score: 0.146
• ghis: 0.451

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Edn2
• Phenotype: homeostasis/metabolism phenotype; growth/size/body region phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); respiratory system phenotype; hematopoietic system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span)

Gene ontology

• Biological process: prostaglandin biosynthetic process;temperature homeostasis;positive regulation of leukocyte chemotaxis;hormonal regulation of the force of heart contraction;positive regulation of the force of heart contraction by chemical signal;regulation of systemic arterial blood pressure by endothelin;cell surface receptor signaling pathway;G protein-coupled receptor signaling pathway;positive regulation of cytosolic calcium ion concentration;positive regulation of cell population proliferation;positive regulation of heart rate;regulation of signaling receptor activity;artery smooth muscle contraction;vein smooth muscle contraction;cytokine-mediated signaling pathway;regulation of vasoconstriction;calcium-mediated signaling;neutrophil chemotaxis;macrophage activation;vasoconstriction;positive regulation of smooth muscle contraction;inositol phosphate-mediated signaling;macrophage chemotaxis;lung alveolus development;positive regulation of prostaglandin-endoperoxide synthase activity;energy homeostasis
• Cellular component: extracellular region;extracellular space;cell
• Molecular function: hormone activity;endothelin B receptor binding