EDN2
endothelin 2, the group of Endothelins
Basic information
Region (hg38): 1:41478775-41484683
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (23 variants)
- not_provided (1 variants)
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. These statistics are base on transcript: NM_000001956.5. Only rare variants are included in the table.
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.
| Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 20 | 23 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 20 | 3 | 0 |
Loading clinvar variants...
GnomAD
Source:
| 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:
- 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