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; OLI887; OLI897 |
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 |