Details for Gene EDNRB

GENE NAME EDNRB
CHROMOSOME 13
ENSEMBL ID ENSG00000136160
ENTREZ ID 1910
UNIPROT ACCESSION NUMBER P24530
GO MOLECULAR FUNCTION G protein-coupled receptor activity; protein binding
ESSENTIAL IN MOUSE Essential
PATHWAYS hsa05200; R-HSA-388396; hsa04916; R-HSA-375276; hsa04020; R-HSA-162582; R-HSA-372790; hsa04926; R-HSA-416476; R-HSA-500792; hsa04080; R-HSA-373076; hsa04022
3 combinations linked to EDNRB OLI035; OLI897; OLI887
3 variants linked to EDNRB EDNRB:c.-26G>A, ; EDNRB:p.Ser305Asn; EDNRB:c.1571G>A, p.Arg524His
3 diseases linked to EDNRB Normosmic congenital hypogonadotropic hypogonadism; Hirschsprung disease; Kallmann syndrome

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