ENSG00000151617


Homo sapiens

Features
Gene ID: ENSG00000151617
  
Biological name :EDNRA
  
Synonyms : EDNRA / endothelin receptor type A / P25101
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 4
Strand: 1
Band: q31.22
Gene start: 147480917
Gene end: 147544954
  
Corresponding Affymetrix probe sets: 204463_s_at (Human Genome U133 Plus 2.0 Array)   204464_s_at (Human Genome U133 Plus 2.0 Array)   216235_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000351359
Ensembl peptide - ENSP00000425354
Ensembl peptide - ENSP00000427259
Ensembl peptide - ENSP00000315011
Ensembl peptide - ENSP00000425281
NCBI entrez gene - 1909     See in Manteia.
OMIM - 131243
RefSeq - NM_001166055
RefSeq - NM_001256283
RefSeq - NM_001957
RefSeq Peptide - NP_001159527
RefSeq Peptide - NP_001243212
RefSeq Peptide - NP_001948
swissprot - P25101
Ensembl - ENSG00000151617
  
Related genetic diseases (OMIM): 157300 - {Migraine, resistance to}, 157300
  616367 - Mandibulofacial dysostosis with alopecia, 616367
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ednraaENSDARG00000011876Danio rerio
 ednrabENSDARG00000062262Danio rerio
 EDNRAENSGALG00000010013Gallus gallus
 EdnraENSMUSG00000031616Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
EDNRB / P24530 / endothelin receptor type BENSG0000013616055
NMBR / P28336 / neuromedin B receptorENSG0000013557726
GRPR / P30550 / gastrin releasing peptide receptorENSG0000012601025
BRS3 / P32247 / bombesin receptor subtype 3ENSG0000010223924
GPR37 / O15354 / G protein-coupled receptor 37ENSG0000017077524
O60883 / GPR37L1 / G protein-coupled receptor 37 like 1ENSG0000017007523


Protein motifs (from Interpro)
Interpro ID Name
 IPR000276  G protein-coupled receptor, rhodopsin-like
 IPR000499  Endothelin receptor family
 IPR002175  Endothelin receptor A
 IPR017452  GPCR, rhodopsin-like, 7TM


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001569 branching involved in blood vessel morphogenesis IEA
 biological_processGO:0001666 response to hypoxia IEA
 biological_processGO:0001701 in utero embryonic development IEA
 biological_processGO:0006939 smooth muscle contraction TAS
 biological_processGO:0007165 signal transduction TAS
 biological_processGO:0007186 G-protein coupled receptor signaling pathway TAS
 biological_processGO:0007190 activation of adenylate cyclase activity TAS
 biological_processGO:0007193 adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway IEA
 biological_processGO:0007202 activation of phospholipase C activity TAS
 biological_processGO:0007204 positive regulation of cytosolic calcium ion concentration TAS
 biological_processGO:0007507 heart development IEA
 biological_processGO:0007585 respiratory gaseous exchange ISS
 biological_processGO:0008217 regulation of blood pressure IEA
 biological_processGO:0008283 cell proliferation TAS
 biological_processGO:0014032 neural crest cell development IEA
 biological_processGO:0014824 artery smooth muscle contraction IMP
 biological_processGO:0042310 vasoconstriction IMP
 biological_processGO:0048484 enteric nervous system development IEA
 biological_processGO:0060322 head development IEA
 biological_processGO:0086100 endothelin receptor signaling pathway IEA
 biological_processGO:1904659 glucose transmembrane transport ISS
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0004435 phosphatidylinositol phospholipase C activity TAS
 molecular_functionGO:0004871 obsolete signal transducer activity IEA
 molecular_functionGO:0004930 G-protein coupled receptor activity IEA
 molecular_functionGO:0004962 endothelin receptor activity NAS
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
Peptide ligand-binding receptors
G alpha (q) signalling events


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000072 Hydroureter "The distention of the ureter with urine." [HPO:curators]
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 HP:0000162 Glossoptosis 
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 HP:0000175 Cleft palate "Cleft palate is a developmental defect of the `palate` (FMA:54549) resulting from a failure of fusion of the palatine processes." [HPO:curators]
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 HP:0000211 Trismus "Limitation in the ability to open the mouth." [HPO:curators]
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 HP:0000232 Everted lower lip 
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 HP:0000324 Facial asymmetry 
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 HP:0000327 Hypoplasia of the maxilla "Underdevelopment of the `Maxilla` (FMA:9711)." [HPO:probinson]
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 HP:0000347 Mandibular hypoplasia "Underdevelopment of the mandible." [HPO:curators]
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 HP:0000369 Low-set ears "Low-set ears are defined to be set below an arbitrary line drawn between the lateral canthus of the eye and the occipital protruberance." [HPO:curators]
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 HP:0000378 Cup-shaped ears "Small auricles that grow forward over the meatus (ear canal)." [HPO:curators]
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 HP:0000384 Preauricular skin tag "A rudimentary tag of ear tissue often containing a core of cartilage and located just in front of the auricle (outer part of the ear)." [HPO:curators]
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 HP:0000402 Stenotic external auditory canal "An abnormal narrowing of the external auditory canal." [HPO:curators]
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 HP:0000405 Hearing loss, conductive 
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 HP:0000411 Protruding ears 
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 HP:0000431 Broad nasal bridge "Increased horizontal dimension of the upper, bony part of the nose." [HPO:curators]
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 HP:0000535 Sparse eyebrows 
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 HP:0000652 Lower eyelid coloboma "A `coloboma` (HP:0000589) of the `lower eyelid` (FMA:54442)." [HPO:probinson]
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 HP:0000653 Sparse eyelashes "Decreased density/number of eyelashes." [pmid:19125427]
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 HP:0000678 Dental overcrowding 
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 HP:0000680 Delayed eruption of deciduous teeth 
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 HP:0001647 Bicuspid aortic valve "The presence of a bicuspid `aortic valve` (FMA:7236)." [HPO:probinson]
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 HP:0004467 Preauricular sinus "The preauricular sinus is a benign congenital lesion of the preauricular soft tissue consisting of a blind-ending narrow tube or pit. It is also known as preauricular pit, preauricular fistula, preauricular tract and preauricular cyst. It can be asymptomatic or present as an infected and discharging sinus. It presents as a small pit adjacent to the external ear usually located at the anterior margin of the ascending limb of the helix." [HPO:curators]
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 HP:0005321 Mandibulofacial dysostosis 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000124205 EDN3 / P14138 / endothelin 3  / complex / reaction
 ENSG00000127129 EDN2 / P20800 / endothelin 2  / reaction / complex
 ENSG00000078401 EDN1 / P05305 / endothelin 1  / reaction / complex






 

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