SPRY4 Chromosome 5
Sprouty RTK signaling antagonist 4
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What This Gene Does
This gene encodes a member of a family of cysteine- and proline-rich proteins. The encoded protein is an inhibitor of the receptor-transduced mitogen-activated protein kinase (MAPK) signaling pathway. Activity of this protein impairs the formation of active GTP-RAS. Nucleotide variation in this gene has been associated with hypogonadotropic hypogonadism 17 with or without anosmia. Alternative splicing results in a multiple transcript variants. [provided by RefSeq, Jun 2014]
Gene Info
Gene Group
Sprouty RTK signaling antagonist family
Locus Type
gene with protein product
Location
5q31.3
Ensembl
ENSG00000187678
Associated Conditions (3)
Hypogonadotropic hypogonadism 17 with or without anosmia
Amenorrhea
SPRY4-related disorder
Key Variants
RS139512218
Conflicting classifications of pathogenicity
Hypogonadotropic hypogonadism 17 with or without anosmia, Amenorrhea, Hypogonadotropic hypogonadism 17 with or without anosmia
Health Risk
RS200364529
Conflicting classifications of pathogenicity
SPRY4-related disorder, SPRY4-related disorder
Health Risk
RS78310959
Conflicting classifications of pathogenicity
Hypogonadotropic hypogonadism 17 with or without anosmia, SPRY4-related disorder, Hypogonadotropic hypogonadism 17 with or without anosmia
Health Risk
RS587776981
Pathogenic
Hypogonadotropic hypogonadism 17 with or without anosmia, Hypogonadotropic hypogonadism 17 with or without anosmia
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139512218 | Health Risk | Conflicting classifications of pathogenicity | Hypogonadotropic hypogonadism 17 with or without anosmia, Amenorrhea, Hypogonadotropic hypogonadism 17 with or without anosmia |
| RS200364529 | Health Risk | Conflicting classifications of pathogenicity | SPRY4-related disorder, SPRY4-related disorder |
| RS78310959 | Health Risk | Conflicting classifications of pathogenicity | Hypogonadotropic hypogonadism 17 with or without anosmia, SPRY4-related disorder, Hypogonadotropic hypogonadism 17 with or without anosmia |
| RS587776981 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism 17 with or without anosmia, Hypogonadotropic hypogonadism 17 with or without anosmia |