YWHAG Chromosome 7
Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma
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What This Gene Does
This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 100% identical to the rat ortholog. It is induced by growth factors in human vascular smooth muscle cells, and is also highly expressed in skeletal and heart muscles, suggesting an important role for this protein in muscle tissue. It has been shown to interact with RAF1 and protein kinase C, proteins involved in various signal transduction pathways. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
14-3-3 phospho-serine/phospho-threonine binding proteins
Locus Type
gene with protein product
Location
7q11.23
Ensembl
ENSG00000170027
Associated Conditions (7)
Developmental and epileptic encephalopathy
56
8 conditions
YWHAG-related disorder
Inborn genetic diseases
Bilateral tonic-clonic seizure
Specific learning disability
Key Variants
RS1583981615
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 56, Developmental and epileptic encephalopathy
Health Risk
RS2536180773
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 56, Developmental and epileptic encephalopathy
Health Risk
RS780642467
Conflicting classifications of pathogenicity
Health Risk
RS1803513587
Likely pathogenic
Developmental and epileptic encephalopathy, 56, Developmental and epileptic encephalopathy
Health Risk
RS2115587401
Likely pathogenic
Health Risk
RS2536180575
Likely pathogenic
Developmental and epileptic encephalopathy, 56, Developmental and epileptic encephalopathy
Health Risk
RS2536181240
Likely pathogenic
Health Risk
RS2536207106
Likely pathogenic
Health Risk
RS1389455796
Pathogenic
Developmental and epileptic encephalopathy, 56, Developmental and epileptic encephalopathy
Health Risk
RS1554616627
Pathogenic
Developmental and epileptic encephalopathy, 56, Developmental and epileptic encephalopathy
Health Risk
RS1583981736
Pathogenic
8 conditions, Developmental and epileptic encephalopathy, 56
Health Risk
RS2115589275
Pathogenic
Bilateral tonic-clonic seizure, Specific learning disability, Bilateral tonic-clonic seizure
Health Risk
All Variants (27)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1583981615 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 56, Developmental and epileptic encephalopathy |
| RS2536180773 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 56, Developmental and epileptic encephalopathy |
| RS780642467 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1803513587 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 56, Developmental and epileptic encephalopathy |
| RS2115587401 | Health Risk | Likely pathogenic | — |
| RS2536180575 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 56, Developmental and epileptic encephalopathy |
| RS2536181240 | Health Risk | Likely pathogenic | — |
| RS2536207106 | Health Risk | Likely pathogenic | — |
| RS1389455796 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 56, Developmental and epileptic encephalopathy |
| RS1554616627 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 56, Developmental and epileptic encephalopathy |
| RS1583981736 | Health Risk | Pathogenic | 8 conditions, Developmental and epileptic encephalopathy, 56 |
| RS2115589275 | Health Risk | Pathogenic | Bilateral tonic-clonic seizure, Specific learning disability, Bilateral tonic-clonic seizure |
| RS2115589280 | Health Risk | Pathogenic | — |
| RS2115667069 | Health Risk | Pathogenic | — |
| RS2536180514 | Health Risk | Pathogenic | — |
| RS2536180587 | Health Risk | Pathogenic | — |
| RS2536180601 | Health Risk | Pathogenic | — |
| RS2536180775 | Health Risk | Pathogenic | — |
| RS2536180810 | Health Risk | Pathogenic | — |
| RS2536180818 | Health Risk | Pathogenic | — |
| RS2536180828 | Health Risk | Pathogenic | — |
| RS2536180897 | Health Risk | Pathogenic | — |
| RS2536181301 | Health Risk | Pathogenic | — |
| RS1554616628 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 56, YWHAG-related disorder |
| RS1554616630 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 56, Developmental and epileptic encephalopathy |
| RS2115589045 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 56, Inborn genetic diseases |
| RS2115589147 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 56, Developmental and epileptic encephalopathy |