This gene encodes the receptor for endothelin-1, a peptide that plays a role in potent and long-lasting vasoconstriction. This receptor associates with guanine-nucleotide-binding (G) proteins, and this coupling activates a phosphatidylinositol-calcium second messenger system. Polymorphisms in this gene have been linked to migraine headache resistance. Alternative splicing resul... See more...

Aliases for EDNRA Gene

Aliases for EDNRA Gene

  • Endothelin Receptor Type A 2 3 4 5
  • HET-AR 2 3 4
  • ETA-R 2 3 4
  • ET-A 2 3 4
  • Endothelin-1 Receptor 3 4
  • ETRA 3 4
  • ETA 3 4
  • Endothelin-1-Specific Receptor 3
  • Endothelin Receptor Subtype A 3
  • G Protein-Coupled Receptor 3
  • EDNRA 5
  • ETAR 3
  • MFDA 3

External Ids for EDNRA Gene

Previous GeneCards Identifiers for EDNRA Gene

  • GC04P149211
  • GC04P148777
  • GC04P148979
  • GC04P148759
  • GC04P148621
  • GC04P148401
  • GC04P144129

Summaries for EDNRA Gene

Entrez Gene Summary for EDNRA Gene

  • This gene encodes the receptor for endothelin-1, a peptide that plays a role in potent and long-lasting vasoconstriction. This receptor associates with guanine-nucleotide-binding (G) proteins, and this coupling activates a phosphatidylinositol-calcium second messenger system. Polymorphisms in this gene have been linked to migraine headache resistance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

GeneCards Summary for EDNRA Gene

EDNRA (Endothelin Receptor Type A) is a Protein Coding gene. Diseases associated with EDNRA include Mandibulofacial Dysostosis With Alopecia and Migraine With Or Without Aura 1. Among its related pathways are RET signaling and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor activity and endothelin receptor activity. An important paralog of this gene is EDNRB.

UniProtKB/Swiss-Prot Summary for EDNRA Gene

  • 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.

Tocris Summary for EDNRA Gene

  • The endothelinA receptor (ETA receptor) is a member of the endothelin receptor group of G-protein-coupled receptors that also includes ETB. They are located primarily in the vascular smooth muscle where they play a role in vasoconstriction and cell proliferation.

Gene Wiki entry for EDNRA Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EDNRA Gene

Genomics for EDNRA Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for EDNRA Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J147480 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 608.6 +0.8 801 3.4 PRDM10 EZH2 ZNF600 ZNF561 SCRT2 ZBTB20 ZXDB ZBTB26 ZBTB17 ZNF423 EDNRA NONHSAG039062.2 lnc-TMEM184C-2 TMEM184C
GH04J147479 Enhancer 0.3 ENCODE 600.7 -1.0 -968 0.1 EBF1 EDNRA NONHSAG039062.2 PRMT5P1 TTC29
GH04J147324 Enhancer 0.6 Ensembl ENCODE 14.4 -154.9 -154916 3.2 CREB1 RCOR1 ATF2 EDNRA MN298114-161 piR-37895-122 TTC29
GH04J147491 Enhancer 0.9 Ensembl ENCODE CraniofacialAtlas 5.8 +14.7 14668 7.6 KDM1A CEBPB FOS ZNF623 NR2F2 BHLHE40 MAFK EBF1 ZNF513 ZBTB7B EDNRA ENSG00000280219 lnc-TMEM184C-2 NONHSAG039062.2 GTF2F2P1 TMEM184C
GH04J147535 Enhancer 0.5 Ensembl 10.4 +54.5 54484 0.4 TEAD4 TCF7 TEAD1 TCF7L2 TEAD3 ZNF652 EDNRA piR-47250 LINC02507 NONHSAG039062.2 TMEM184C
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EDNRA on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EDNRA

Top Transcription factor binding sites by QIAGEN in the EDNRA gene promoter:
  • AP-1
  • ATF-2
  • c-Fos
  • c-Jun
  • C/EBPalpha
  • CREB
  • deltaCREB
  • GATA-1

Genomic Locations for EDNRA Gene

Genomic Locations for EDNRA Gene
chr4:147,480,917-147,544,954
(GRCh38/hg38)
Size:
64,038 bases
Orientation:
Plus strand
chr4:148,402,069-148,466,106
(GRCh37/hg19)
Size:
64,038 bases
Orientation:
Plus strand

Genomic View for EDNRA Gene

Genes around EDNRA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EDNRA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EDNRA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EDNRA Gene

Proteins for EDNRA Gene

  • Protein details for EDNRA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P25101-EDNRA_HUMAN
    Recommended name:
    Endothelin-1 receptor
    Protein Accession:
    P25101
    Secondary Accessions:
    • B2R723
    • B4E2V6
    • B7Z9G6
    • D3DP03
    • E7ER36
    • O43441
    • Q16432
    • Q16433
    • Q8TBH2

    Protein attributes for EDNRA Gene

    Size:
    427 amino acids
    Molecular mass:
    48722 Da
    Quaternary structure:
    • Interacts with HDAC7 and KAT5.

    Alternative splice isoforms for EDNRA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EDNRA Gene

Post-translational modifications for EDNRA Gene

  • Glycosylation at Asn29 and Asn62
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for EDNRA Gene

Domains & Families for EDNRA Gene

Gene Families for EDNRA Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • G-protein coupled receptors
  • Predicted membrane proteins

Protein Domains for EDNRA Gene

InterPro:
Blocks:
  • Endothelin receptor signature
  • Endothelin-A receptor signature
ProtoNet:

Suggested Antigen Peptide Sequences for EDNRA Gene

GenScript: Design optimal peptide antigens:
  • Endothelin A receptor (EDNRA_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P25101

UniProtKB/Swiss-Prot:

EDNRA_HUMAN :
  • Belongs to the G-protein coupled receptor 1 family. Endothelin receptor subfamily. EDNRA sub-subfamily.
Family:
  • Belongs to the G-protein coupled receptor 1 family. Endothelin receptor subfamily. EDNRA sub-subfamily.
genes like me logo Genes that share domains with EDNRA: view

Function for EDNRA Gene

Molecular function for EDNRA Gene

UniProtKB/Swiss-Prot 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.
GENATLAS Biochemistry:
endothelin receptor A,with higher affinity to EDN1,G protein coupled receptor superfamily

Phenotypes From GWAS Catalog for EDNRA Gene

Gene Ontology (GO) - Molecular Function for EDNRA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004435 phosphatidylinositol phospholipase C activity TAS 8702836
GO:0004930 G protein-coupled receptor activity IEA --
GO:0004962 endothelin receptor activity NAS 8611157
GO:0005515 protein binding IPI 19202075
genes like me logo Genes that share ontologies with EDNRA: view
genes like me logo Genes that share phenotypes with EDNRA: view

Human Phenotype Ontology for EDNRA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for EDNRA Gene

MGI Knock Outs for EDNRA:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EDNRA

Clone Products

  • Addgene plasmids for EDNRA

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for EDNRA Gene

Localization for EDNRA Gene

Subcellular locations from UniProtKB/Swiss-Prot for EDNRA Gene

Cell membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EDNRA gene
Compartment Confidence
plasma membrane 5
extracellular 3
nucleus 3
cytosol 3
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Cytosol (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EDNRA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 1326535
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with EDNRA: view

Pathways & Interactions for EDNRA Gene

genes like me logo Genes that share pathways with EDNRA: view

Pathways by source for EDNRA Gene

2 GeneGo (Thomson Reuters) pathways for EDNRA Gene
  • Development Endothelin-1/EDNRA signaling
  • Development Endothelin-1/EDNRA transactivation of EGFR
2 Qiagen pathways for EDNRA Gene
  • Endothelin-1 Signaling Pathway
  • Signaling Involved in Cardiac Hypertrophy
1 GeneTex pathway for EDNRA Gene

SIGNOR curated interactions for EDNRA Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for EDNRA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001569 branching involved in blood vessel morphogenesis IEA --
GO:0001666 response to hypoxia IEA --
GO:0001701 in utero embryonic development IEA --
GO:0006939 smooth muscle contraction TAS,NAS 9284755
GO:0007165 signal transduction TAS 1326535
genes like me logo Genes that share ontologies with EDNRA: view

Drugs & Compounds for EDNRA Gene

(101) Drugs for EDNRA Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Sitaxsentan Approved, Investigational, Withdrawn Pharma Antagonist, Target, antagonist 24
Bosentan Approved, Investigational Pharma Target, antagonist 118
Ambrisentan Approved, Investigational Pharma Antagonist, Target, antagonist ETA-receptor antagonist 63
Macitentan Approved Pharma Target, antagonist Endothelin (ET)(A) and ET(B) receptor antagonist 54
Aspirin Approved, Vet_approved Pharma Channel blocker, Target, inhibitor 1512

(50) Additional Compounds for EDNRA Gene - From: Novoseek and IUPHAR

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
[<sup>125</sup>I]ET-1
Agonist, Full agonist
[<sup>125</sup>I]ET-2
Agonist, Full agonist
[<sup>18</sup>F]ET-1
Agonist, Full agonist

(5) Tocris Compounds for EDNRA Gene

Compound Action Cas Number
BMS 182874 hydrochloride Highly selective, orally active non-peptide ETA antagonist 1215703-04-0
BQ-123 Selective ETA antagonist 136553-81-6
CI 1020 Highly selective, orally active ETA antagonist 162256-50-0
FR 139317 Highly potent, selective ETA antagonist 142375-60-8
Sulfisoxazole Endothelin ETA antagonist 127-69-5

(14) ApexBio Compounds for EDNRA Gene

Compound Action Cas Number
ACT-132577 ETA/ETB receptors antagonist 1103522-45-7
Atrasentan hydrochloride Endothelin antagonist receptor 195733-43-8
Avosentan ETA receptor antagonist 290815-26-8
BMS 182874 hydrochloride ETA antagonist 1215703-04-0
Bosentan 147536-97-8
Bosentan Hydrate 157212-55-0
BQ-123 Selective ETA receptor antagonist 136553-81-6
CI 1020 162256-50-0
Endothelin 3 (human, rat) 117399-93-6
FR 139317 142375-60-8
Macitentan Endothelin (ET)(A) and ET(B) receptor antagonist 441798-33-0
Sarafotoxin S6a 126738-34-9
Sarafotoxin S6b 116303-65-2
Zibotentan (ZD4054) ETA receptor antagonist,potent and specific 186497-07-4
genes like me logo Genes that share compounds with EDNRA: view

Drug Products

Transcripts for EDNRA Gene

mRNA/cDNA for EDNRA Gene

4 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EDNRA

Clone Products

  • Addgene plasmids for EDNRA

Alternative Splicing Database (ASD) splice patterns (SP) for EDNRA Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b
SP1: -
SP2: - - -
SP3: - - - -
SP4: - - -
SP5: - - - -
SP6: - - - - - -
SP7: - -

Relevant External Links for EDNRA Gene

GeneLoc Exon Structure for
EDNRA

Expression for EDNRA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for EDNRA Gene

mRNA differential expression in normal tissues according to GTEx for EDNRA Gene

This gene is overexpressed in Cervix - Ectocervix (x5.0).

Protein differential expression in normal tissues from HIPED for EDNRA Gene

This gene is overexpressed in Ovary (37.7) and Seminal vesicle (22.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for EDNRA Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EDNRA

SOURCE GeneReport for Unigene cluster for EDNRA Gene:

Hs.183713

mRNA Expression by UniProt/SwissProt for EDNRA Gene:

P25101-EDNRA_HUMAN
Tissue specificity: Isoform 1, isoform 3 and isoform 4 are expressed in a variety of tissues, with highest levels in the aorta and cerebellum, followed by lung, atrium and cerebral cortex, lower levels in the placenta, kidney, adrenal gland, duodenum, colon, ventricle and liver but no expression in umbilical vein endothelial cells. Within the placenta, isoform 1, isoform 2, isoform 3 and isoform 4 are expressed in the villi and stem villi vessels.

Evidence on tissue expression from TISSUES for EDNRA Gene

  • Nervous system(4.7)
  • Lung(4.6)
  • Muscle(3.5)
  • Heart(3.5)
  • Blood(2.9)
  • Kidney(2.9)
  • Skin(2.8)
  • Liver(2.4)
  • Intestine(2.4)
  • Adrenal gland(2.3)
  • Spleen(2.2)
  • Thyroid gland(2.1)
  • Bone(2.1)
  • Urine(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for EDNRA Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • skeleton
Regions:
Head and neck:
  • chin
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • nose
  • outer ear
  • skull
  • tooth
General:
  • hair
  • skin
genes like me logo Genes that share expression patterns with EDNRA: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein tissue co-expression partners for EDNRA Gene

Orthologs for EDNRA Gene

This gene was present in the common ancestor of chordates.

Orthologs for EDNRA Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia EDNRA 30 31
  • 99.77 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia EDNRA 30 31
  • 92.88 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia EDNRA 30 31
  • 91.26 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia EDNRA 31
  • 89 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia EDNRA 31
  • 89 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ednra 30
  • 85.92 (n)
Mouse
(Mus musculus)
Mammalia Ednra 30 17 31
  • 85.4 (n)
OneToOne
Chicken
(Gallus gallus)
Aves EDNRA 30 31
  • 76.48 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia EDNRA 31
  • 70 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ednra 30
  • 71.64 (n)
Str.12889 30
African clawed frog
(Xenopus laevis)
Amphibia ednra-prov 30
Zebrafish
(Danio rerio)
Actinopterygii ednraa 30 31
  • 68.08 (n)
OneToMany
ednrab 31
  • 63 (a)
OneToMany
Species where no ortholog for EDNRA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for EDNRA Gene

ENSEMBL:
Gene Tree for EDNRA (if available)
TreeFam:
Gene Tree for EDNRA (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EDNRA: view image

Paralogs for EDNRA Gene

(3) SIMAP similar genes for EDNRA Gene using alignment to 1 proteins:

  • EDNRA_HUMAN
genes like me logo Genes that share paralogs with EDNRA: view

Variants for EDNRA Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EDNRA Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
711201 Benign: not provided 147,542,480(+) A/G NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
721740 Likely Benign: not provided 147,486,035(+) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
723006 Likely Benign: not provided 147,532,496(+) T/C INTRON_VARIANT
728822 Likely Benign: not provided 147,535,957(+) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
730822 Likely Benign: not provided 147,535,868(+) A/T INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for EDNRA Gene

Structural Variations from Database of Genomic Variants (DGV) for EDNRA Gene

Variant ID Type Subtype PubMed ID
esv2274849 CNV deletion 18987734
esv2728508 CNV deletion 23290073
nsv1123854 CNV deletion 24896259
nsv830109 CNV loss 17160897
nsv830110 CNV loss 17160897

Variation tolerance for EDNRA Gene

Residual Variation Intolerance Score: 25.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.24; 5.43% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EDNRA Gene

Human Gene Mutation Database (HGMD)
EDNRA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EDNRA

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EDNRA Gene

Disorders for EDNRA Gene

MalaCards: The human disease database

(58) MalaCards diseases for EDNRA Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mandibulofacial dysostosis with alopecia
  • mfda
migraine with or without aura 1
  • migraine with or without aura, susceptibility to, 1
scarlet fever
  • scarlatina
alopecia
ritter's disease
  • dermatitis exfoliativa neonatorum
- elite association - COSMIC cancer census association via MalaCards
Search EDNRA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

EDNRA_HUMAN
  • Mandibulofacial dysostosis with alopecia (MFDA) [MIM:616367]: A form of mandibulofacial dysostosis, a disorder characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids. MFDA features include maxillary dysmorphism with dysplastic zygomatic arch, hypoplastic mandible, scalp alopecia, scant eyebrows and eyelashes, severe hypoplasia or aplasia of eyelids, small cupped dysplastic ears, conductive hearing loss, cleft palate, dental anomalies, micrognathia, and limited jaw mobility. {ECO:0000269 PubMed:25772936}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for EDNRA

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with EDNRA: view

No data available for Genatlas for EDNRA Gene

Publications for EDNRA Gene

  1. Genetic polymorphisms in endothelin-receptor-subtype-a-gene as susceptibility factor for obstructive sleep apnea syndrome. (PMID: 20083432) Buck D … Fietze I (Sleep medicine 2010) 3 23 41
  2. ETB receptor polymorphism is associated with airway obstruction. (PMID: 17470272) Taillé C … Crestani B (BMC pulmonary medicine 2007) 3 23 41
  3. Association of single nucleotide polymorphisms in endothelin family genes with the progression of atherosclerosis in patients with essential hypertension. (PMID: 17525706) Yasuda H … Kawano Y (Journal of human hypertension 2007) 3 23 41
  4. Polymorphism in endothelin-related genes limits exercise-induced decreases in arterial stiffness in older subjects. (PMID: 16567585) Iemitsu M … Matsuda M (Hypertension (Dallas, Tex. : 1979) 2006) 3 23 41
  5. Endothelin axis polymorphisms in patients with scleroderma. (PMID: 16947775) Fonseca C … Abraham D (Arthritis and rheumatism 2006) 3 23 41

Products for EDNRA Gene

  • Addgene plasmids for EDNRA

Sources for EDNRA Gene