YWHAG

Chr 7q11.23

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma

Aliases:: PPP1R170, 14-3-3GAMMA, 14-3-3γ
MANE:: ENST00000307630.5

OMIM: 605356 ↗NCBI: 7532 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

YWHAG · P61981

v62025-08-01

Predicted Aligned Error matrix for YWHAG — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

94.2/ 100

Very high

247 residues

Confidence breakdown

Very high(≥ 90)89%
Confident(70–90)7%
Low(50–70)1%
Very low(< 50)2%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

genetic developmental and epileptic encephalopathy
0.65
epilepsy, early-onset
0.51
hereditary disease
0.49
undetermined early-onset epileptic encephalopathy
0.46
Intellectual disability
0.46
Seizure
0.42
COVID-19
0.37
severe acute respiratory syndrome
0.37
Severe global developmental delay
0.34
Spasticity
0.34

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

14-3-3 protein gamma

Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways (PubMed:15696159, PubMed:16511572, PubMed:36732624). Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif (PubMed:15696159, PubMed:16511572, PubMed:36732624). Binding generally results in the modulation of the activity of the binding partner (PubMed:16511572). Promotes inactivation of WDR24 component of the GATOR2 complex by binding to phosphorylated WDR24 (PubMed:36732624). Participates in the positive regulation of NMDA glutamate receptor activity by promoting the L-glutamate secretion through interaction with BEST1 (PubMed:29121962). Reduces keratinocyte intercellular adhesion, via interacting with PKP1 and sequestering it in the cytoplasm, thereby reducing its incorporation into desmosomes (PubMed:29678907). Plays a role in mitochondrial protein catabolic process (also named MALM) that promotes the degradation of damaged proteins inside mitochondria (PubMed:22532927)

Curated MONDO disease pages that list YWHAG among their top associated genes.

undetermined early-onset epileptic encephalopathyRare

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Disease associations (Open Targets)

Protein function (UniProt)

Diseases associated with YWHAG