rs3027095

This variant is located in the EDNRB gene.

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ClinVar annotation

Uncertain Significance★★★☆
2 submitters1 publication

Hirschsprung disease, susceptibility to, 2; not provided

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Research that mentions this SNP (1)

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A Functional SNP Catalog of Overlapping miRNA-Binding Sites in Genes Implicated in Prion Disease and Other Neurodegenerative Disorders
FunctionalReuben Saba et al.(2014)· Human Mutation

This functional study identifies 119 SNPs in miRNA-binding sites within 3'UTRs of 53 genes implicated in prion disease and other neurodegenerative disorders. The paper uses bioinformatics to predict SNPs affecting miRNA binding and experimentally validates key interactions, particularly rs9291296 in GABRα4 which strengthens miR-26a-5p binding (ΔΔG = 2.3 kcal/mol). The study finds that GABA receptor subunits are notably enriched for miRNA-targeting SNPs.

Traits studied:Alzheimer's diseaseAmyotrophic Lateral SclerosisAutismEpilepsyHuntington's diseaseMood disordersNeurodegenerationNeurodevelopmental disordersParkinson's diseasePrion diseaseSchizophreniaTaupathiesTemporal lobe epilepsy
PubMedDOIMetascience Observatory

About EDNRB

The protein encoded by this gene is a G protein-coupled receptor which activates a phosphatidylinositol-calcium second messenger system. Its ligand, endothelin, consists of a family of three potent vasoactive peptides: ET1, ET2, and ET3. Studies suggest that the multigenic disorder, Hirschsprung disease type 2, is due to mutations in the endothelin receptor type B gene. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Oct 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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