SPRED2 Chromosome 2

Sprouty related EVH1 domain containing 2

3 variants 3 Health Risk

Upload your DNA to see your personal genotypes for variants in SPRED2.

What This Gene Does

SPRED2 is a member of the Sprouty (see SPRY1; MIM 602465)/SPRED family of proteins that regulate growth factor-induced activation of the MAP kinase cascade (see MAPK1; MIM 176948) (Nonami et al., 2004 [PubMed 15465815]).[supplied by OMIM, Mar 2008]

Gene Info

Gene Group

Sprouty related EVH1 domain containing

Locus Type

gene with protein product

Location

2p14

Ensembl

ENSG00000198369

Associated Conditions (2)

Noonan syndrome 14

Noonan syndrome

Key Variants

RS2104102138

Pathogenic

Noonan syndrome 14, Noonan syndrome, Noonan syndrome 14

Health Risk

RS2104216988

Pathogenic

Noonan syndrome, Noonan syndrome 14, Noonan syndrome

Health Risk

RS780902942

Pathogenic

Noonan syndrome, Noonan syndrome 14, Noonan syndrome

Health Risk

All Variants (3)

RSID	Category	Clinical Significance	Conditions
RS2104102138	Health Risk	Pathogenic	Noonan syndrome 14, Noonan syndrome, Noonan syndrome 14
RS2104216988	Health Risk	Pathogenic	Noonan syndrome, Noonan syndrome 14, Noonan syndrome
RS780902942	Health Risk	Pathogenic	Noonan syndrome, Noonan syndrome 14, Noonan syndrome