Details for Gene IL17RD

GENE NAME IL17RD
CHROMOSOME 3
ENSEMBL ID None
ENTREZ ID ENSG00000144730
UNIPROT ACCESSION NUMBER Q8NFM7
GO MOLECULAR FUNCTION ['interleukin-17 receptor activity']
ESSENTIAL IN MOUSE Non-essential
PATHWAYS R-HSA-162582; R-HSA-5673001; R-HSA-5674135; R-HSA-5683057; R-HSA-5684996
22 combinations linked to IL17RD OLI357; OLI1650; OLI356; OLI1325; OLI1594; OLI355; OLI1268; OLI837; OLI1341; OLI354; OLI365; OLI1344; OLI1384; OLI1604; OLI868; OLI1343; OLI858; OLI1108; OLI1592; OLI1416; OLI366; OLI908
18 variants linked to IL17RD IL17RD:p.Gly35Val; IL17RD:p.Ser671Leu; IL17RD:p.Ala221Thr; IL17RD:p.Ile329Met; IL17RD:c.1136A>G, p.Tyr379Cys; IL17RD:c.2204C>T, p.Ala735Val; IL17RD:c.572C>T, p.Pro191Leu; IL17RD:c.2101G>A, p.Gly701Ser; IL17RD:c.1592G>T, p.Arg531Met; IL17RD:c.1924G>C, p.Ala642Pro; IL17RD:c.1696C>T, p.Pro566Ser; IL17RD:c.1972A>G, p.Met658Val; IL17RD:c.1319G>T, p.Gly440Val; IL17RD:c.56A>G, p.Asn19Ser; IL17RD:c.2009C>T, p.Pro670Leu; IL17RD:c.1690T>G, p.Phe564Val; IL17RD:c.2068T>A, p.Ser690Thr; IL17RD:c.960G>A, p.Met320Ile
5 diseases linked to IL17RD Normosmic congenital hypogonadotropic hypogonadism; Hypogonadotropic hypogonadism with partial puberty phenotype; Hypogonadotropic hypogonadism with absent puberty phenotype; Non-acquired combined pituitary hormone deficiency; Kallmann syndrome
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