GENE NAME | SPRY4 |
CHROMOSOME | 5 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000187678 |
UNIPROT ACCESSION NUMBER | A0A0C4DFS6 |
GO MOLECULAR FUNCTION | ['protein kinase inhibitor activity', 'protein binding'] |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | |
13 combinations linked to SPRY4 | OLI370; OLI371; OLI1556; OLI1277; OLI835; OLI393; OLI358; OLI815; OLI1295; OLI1426; OLI369; OLI1298; OLI1260 |
10 variants linked to SPRY4 | SPRY4:c.202A>T, p.Thr68Ser; SPRY4:c.722C>A, p.Ser241Tyr; SPRY4:c.46G>A, p.Val16Ile; SPRY4:c.88C>T, p.Arg30Trp; SPRY4:c.313G>A, p.Asp105Asn; SPRY4:c.722C>T, p.Ser241Phe; SPRY4:c.626G>A, p.Cys209Tyr; SPRY4:c.622delG, p.Glu208SerfsTer74; SPRY4:c.530A>G, p.Lys177Arg; SPRY4:c.29T>A, p.Leu10Gln |
4 diseases linked to SPRY4 | Normosmic congenital hypogonadotropic hypogonadism; Hypogonadotropic hypogonadism with absent puberty phenotype; 46,XY disorder of sex development; Kallmann syndrome |