Details for Gene SPRY4

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; OLI1298; OLI393; OLI1295; OLI1277; OLI358; OLI1556; OLI835; OLI369; OLI1260; OLI1426; OLI815; OLI371
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

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