YWHAE

Chr 17p13.3

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

Aliases:: FLJ45465
MANE:: ENST00000264335.13

OMIM: 605066 ↗NCBI: 7531 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

YWHAE · P62258

v62025-08-01

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

Mean pLDDT

92.9/ 100

Very high

255 residues

Confidence breakdown

Very high(≥ 90)85%
Confident(70–90)9%
Low(50–70)2%
Very low(< 50)4%

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
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

atrial fibrillation
0.49
neurodegenerative disease
0.46
Abnormality of the skeletal system
0.45
schizophrenia
0.42
hypertensive disorder
0.42
endometrioid stromal sarcoma
0.38
clear cell sarcoma
0.37
COVID-19
0.37
synovial sarcoma
0.37
leiomyosarcoma
0.37

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

Protein function (UniProt)

14-3-3 protein epsilon

Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways (PubMed:21189250). Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif (PubMed:35343654). Binding generally results in the modulation of the activity of the binding partner (By similarity). Positively regulates phosphorylated protein HSF1 nuclear export to the cytoplasm (PubMed:12917326). Plays a positive role in the antiviral signaling pathway upstream of TBK1 via interaction with RIGI (PubMed:37555661). Mechanistically, directs RIGI redistribution from the cytosol to mitochondrial associated membranes where it mediates MAVS-dependent innate immune signaling during viral infection (PubMed:22607805). Plays a role in proliferation inhibition and cell cycle arrest by exporting HNRNPC from the nucleus to the cytoplasm to be degraded by ubiquitination (PubMed:37599448)