YWHAE
Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Epsilon
Gene Information Card
| Symbol | YWHAE |
|---|---|
| Full Name | Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Epsilon |
| Gene Type | Protein coding |
| Chromosomal Location | 17p13.3 |
| NCBI Gene ID | 7531 ncbi.nlm.nih.gov/gene/7531 |
| Ensembl ID | ENSG00000108953 |
| UniProt ID | P62258 |
| OMIM ID | 605066 |
| HGNC ID | 12851 |
| Aliases | 14-3-3E, MDS, KCIP-1, 14-3-3 epsilon |
Description
The YWHAE gene encodes the epsilon isoform of the 14-3-3 protein family, which are highly conserved adaptor proteins that bind to phosphoserine/phosphothreonine motifs. 14-3-3 epsilon regulates signal transduction, cell cycle control, apoptosis, and neuronal development. It is involved in multiple cellular processes through interaction with kinases, receptors, and structural proteins.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Miller-Dieker Lissencephaly Syndrome | YWHAE deletion (17p13.3) contributes to neuronal migration defects | OMIM #247200 |
| Holoprosencephaly | YWHAE deletion or mutation disrupts forebrain development | OMIM #236100 |
| Breast Cancer | YWHAE overexpression promotes cell proliferation and metastasis | COSMIC, PMID: 23431137 |
| Endometrial Stromal Sarcoma | YWHAE-NUTM2A/B fusion drives oncogenesis | COSMIC, PMID: 22522925 |
| Lung Cancer | YWHAE amplification associated with poor prognosis | COSMIC, PMID: 20526339 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 32.5 | High |
| Heart | 18.2 | Medium |
| Lung | 12.1 | Medium |
| Liver | 8.4 | Low |
| Kidney | 15.3 | Medium |
| Testis | 20.7 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 28.4 | High expression |
| HeLa | 22.1 | High expression |
| MCF7 | 19.6 | Medium expression |
| A549 | 14.8 | Medium expression |
| K562 | 11.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.1% | Loss of start codon, likely loss of function |
| c.214C>T (p.Arg72Cys) | Missense | <0.1% | Alters phosphoserine binding |
| YWHAE-NUTM2A fusion | Gene fusion | Rare | Oncogenic in endometrial stromal sarcoma |
| YWHAE amplification | Copy number gain | ~5% in breast cancer | Overexpression, promotes proliferation |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants (e.g., p.Arg72Cys) impair phosphoserine binding, reducing adaptor function.
Gain of Function (GOF)
Gene amplification and overexpression in cancers enhance pro-survival signaling.
Dominant Negative (DN)
Not well documented; some truncating mutations may interfere with dimerization.
View complete mutation data：
Gene Ontology (GO)
Pathways
• PI3K-Akt signaling pathway
• MAPK signaling pathway
• Apoptosis
• Cell cycle
• Neurotrophin signaling pathway
Protein Summary
14-3-3 protein epsilon (UniProt P62258) is a 255-amino acid adaptor protein that forms homo- and heterodimers. It binds to phosphorylated serine/threonine residues on target proteins, modulating their activity, localization, and stability. The protein is ubiquitously expressed with high levels in brain. It plays critical roles in neuronal migration, cell cycle regulation, and apoptosis. Dysregulation via deletion, mutation, or fusion contributes to neurodevelopmental disorders and cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| YWHAE Knockout HEK293 Cell Line | EDJ-KQ880 | Human | 7531 | Details Get a Quote |
| YWHAE Knockout HeLa Cell Line | EDJ-KQ18377 | Human | 7531 | Details Get a Quote |
| YWHAE Knockout A-549 Cell Line | EDJ-KQ19703 | Human | 7531 | Details Get a Quote |
| YWHAE Knockout HCT 116 Cell Line | EDJ-KQ19704 | Human | 7531 | Details Get a Quote |
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