GeneBe

EDNRA

endothelin receptor type A, the group of Endothelin receptors

Basic information

Region (hg38): 4:147480917-147544954

Links

ENSG00000151617 ∙ NCBI:1909 ∙ OMIM:131243 ∙ HGNC:3179 ∙ Uniprot:P25101 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

  • mandibulofacial dysostosis with alopecia (Supportive), mode of inheritance: AD
  • mandibulofacial dysostosis with alopecia (Strong), mode of inheritance: AD
  • cystic fibrosis (Supportive), mode of inheritance: AR
  • mandibulofacial dysostosis with alopecia (Definitive), mode of inheritance: AD
  • mandibulofacial dysostosis with alopecia (Moderate), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Mandibulofacial dysostosis with alopeciaADAudiologic/OtolaryngologicAmong other features, early recognition and treatment of hearing impairment may improve outcomes, including speech and language developmentAudiologic/Otolaryngologic; Craniofacial; Dental; Dermatologic; Ophthalmologic16116593; 20583178; 25772936

ClinVar

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

  • not_provided (71 variants)
  • Inborn_genetic_diseases (26 variants)
  • Mandibulofacial_dysostosis_with_alopecia (10 variants)
  • Migraine_with_or_without_aura,_susceptibility_to,_1 (7 variants)
  • not_specified (4 variants)
  • EDNRA-related_disorder (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EDNRA gene is commonly pathogenic or not. These statistics are base on transcript: NM_000001957.4. 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.

EffectPLPVUSLBBSum
synonymous
1
clinvar
22
clinvar
1
clinvar
 24
missense
2
clinvar
56
clinvar
1
clinvar
2
clinvar
 61
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 2 0 57 23 3
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
EDNRAprotein_codingprotein_codingENST00000324300 764038
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
0.9920.00842125742041257460.0000159
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense2.801202430.4940.00001292864
Missense in Polyphen31107.350.288771272
Synonymous0.6178087.30.9160.00000507786
Loss of Function3.79118.70.05349.46e-7216

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.00004620.0000462
European (Non-Finnish)0.00001770.0000176
Middle Eastern0.000.00
South Asian0.00006530.0000327
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Receptor for endothelin-1. Mediates its action by association with G proteins that activate a phosphatidylinositol- calcium second messenger system. The rank order of binding affinities for ET-A is: ET1 > ET2 >> ET3.;
Pathway
Calcium signaling pathway - Homo sapiens (human);cAMP signaling pathway - Homo sapiens (human);Vascular smooth muscle contraction - Homo sapiens (human);Renin secretion - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);cGMP-PKG signaling pathway - Homo sapiens (human);GPCRs, Other;Endothelin Pathways;Peptide GPCRs;miR-509-3p alteration of YAP1-ECM axis;GPCRs, Class A Rhodopsin-like;Prostaglandin Synthesis and Regulation;Signaling by GPCR;Signal Transduction;role of egf receptor transactivation by gpcrs in cardiac hypertrophy;ion channels and their functional role in vascular endothelium;activation of csk by camp-dependent protein kinase inhibits signaling through the t cell receptor;chrebp regulation by carbohydrates and camp;role of -arrestins in the activation and targeting of map kinases;activation of camp-dependent protein kinase pka;Peptide ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);roles of arrestin dependent recruitment of src kinases in gpcr signaling;GPCR ligand binding;-arrestins in gpcr desensitization;EGFR-dependent Endothelin signaling events;G alpha (q) signalling events;GPCR downstream signalling;Endothelins (Consensus)

Recessive Scores

pRec
0.415

Intolerance Scores

loftool
0.147
rvis_EVS
-0.38
rvis_percentile_EVS
27.42

Haploinsufficiency Scores

pHI
0.370
hipred
Y
hipred_score
0.800
ghis
0.646

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.716

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Ednra
Phenotype
growth/size/body region phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); endocrine/exocrine gland phenotype; muscle phenotype; craniofacial phenotype; homeostasis/metabolism phenotype; cellular phenotype; skeleton phenotype; renal/urinary system phenotype; embryo phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); respiratory system phenotype; hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); 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); normal phenotype; digestive/alimentary phenotype; hearing/vestibular/ear phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); vision/eye phenotype; immune system phenotype;

Zebrafish Information Network

Gene name
ednrab
Affected structure
pharyngeal arch 1
Phenotype tag
abnormal
Phenotype quality
decreased length

Gene ontology

Biological process
branching involved in blood vessel morphogenesis;response to hypoxia;in utero embryonic development;smooth muscle contraction;signal transduction;G protein-coupled receptor signaling pathway;activation of adenylate cyclase activity;adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;activation of phospholipase C activity;positive regulation of cytosolic calcium ion concentration;heart development;respiratory gaseous exchange;regulation of blood pressure;cell population proliferation;regulation of glucose transmembrane transport;neural crest cell development;artery smooth muscle contraction;vasoconstriction;enteric nervous system development;head development;endothelin receptor signaling pathway
Cellular component
plasma membrane;integral component of plasma membrane
Molecular function
phosphatidylinositol phospholipase C activity;endothelin receptor activity;protein binding