YWHAQ (14-3-3 Protein Theta)
A member of the 14-3-3 family of proteins involved in signal transduction, cell cycle regulation, and apoptosis.
Gene Information Card
| Symbol | YWHAQ |
|---|---|
| Full Name | tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein theta |
| Gene Type | protein-coding |
| Chromosomal Location | 2p25.1 |
| NCBI Gene ID | 10971 ncbi.nlm.nih.gov/gene/10971 |
| Ensembl ID | ENSG00000134308 |
| UniProt ID | P27348 |
| OMIM ID | 601717 |
| HGNC ID | 12855 |
| Aliases | 14-3-3 theta, 14-3-3T, HS1 |
Description
The YWHAQ gene encodes the theta isoform of the 14-3-3 protein family. These proteins are highly conserved and function as adaptor molecules that bind to phosphoserine/phosphothreonine motifs, modulating the activity of a wide range of signaling proteins. YWHAQ is involved in cell cycle control, apoptosis, transcriptional regulation, and cellular stress responses. It is ubiquitously expressed and has been implicated in several cancers and neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | YWHAQ overexpression may promote cell survival and proliferation via interaction with signaling kinases such as Raf and PI3K. | COSMIC; PMID: 25691885 |
| Lung cancer | Altered expression of YWHAQ contributes to tumor progression and resistance to apoptosis. | COSMIC; PMID: 28431213 |
| Alzheimer's disease | YWHAQ interacts with tau protein and may influence tau phosphorylation and aggregation. | UniProt; PMID: 21947065 |
| Schizophrenia | Genetic variants in YWHAQ have been associated with altered synaptic signaling. | ClinVar; PMID: 20468064 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 48.2 | High |
| Lung | 35.1 | Medium |
| Breast | 29.8 | Medium |
| Liver | 22.5 | Medium |
| Heart | 18.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 52.3 | High expression |
| HeLa | 44.1 | High expression |
| A549 | 38.6 | Medium expression |
| MCF7 | 41.2 | High expression |
| HepG2 | 30.5 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.94G>A (p.Glu32Lys) | Missense | 0.02% (COSMIC) | Unknown functional impact; reported in breast cancer |
| c.215C>T (p.Pro72Leu) | Missense | 0.01% (COSMIC) | Located in ligand-binding domain; may alter protein interactions |
| c.367A>G (p.Ile123Val) | Missense | 0.03% (COSMIC) | Rare variant; no known disease association |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in YWHAQ.
Gain of Function (GOF)
Overexpression of wild-type YWHAQ is observed in several cancers, suggesting a potential gain-of-function role in tumorigenesis.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for YWHAQ.
View complete mutation data：
Gene Ontology (GO)
Pathways
• PI3K-Akt signaling pathway (KEGG: hsa04151)
• Rap1 signaling pathway (KEGG: hsa04015)
• Apoptosis (KEGG: hsa04210)
• Neurotrophin signaling pathway (KEGG: hsa04722)
Protein Summary
The 14-3-3 protein theta encoded by YWHAQ is a 245-amino-acid protein that forms homo- and heterodimers. It binds to a wide array of phosphoserine/phosphothreonine-containing proteins, thereby modulating their localization, stability, and activity. Key interactors include RAF1, BAD, and CDC25. The protein is predominantly cytoplasmic but can translocate to the nucleus upon cellular stress. Post-translational modifications include phosphorylation at Ser58 and acetylation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| YWHAQ Knockout HEK293 Cell Line | EDJ-KQ881 | Human | 10971 | Details Get a Quote |
| YWHAQ Knockout A-549 Cell Line | EDJ-KQ19706 | Human | 10971 | Details Get a Quote |
| YWHAQ Knockout HCT 116 Cell Line | EDJ-KQ19707 | Human | 10971 | Details Get a Quote |
| YWHAQ Knockout HeLa Cell Line | EDJ-KQ19708 | Human | 10971 | Details Get a Quote |
