HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
34 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
YWHAQ
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein theta
Chromosome 2 · 2p25.1
NCBI Gene: 10971Ensembl: ENSG00000134308.15HGNC: HGNC:12854UniProt: P27348
575PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
Highly Studied
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleuscytosolfocal adhesionmembraneAbnormality of the skeletal systemneurodegenerative diseaseCOVID-19severe acute respiratory syndrome
✦AI Summary

YWHAQ (14-3-3 theta) is an adapter protein that regulates diverse signaling pathways through phosphoserine/phosphothreonine motif recognition and modulates binding partner activity 1. It negatively regulates PDPK1 kinase activity and participates in signal transduction, intracellular protein localization, and transcriptional regulation 1. YWHAQ exhibits tissue-specific expression patterns, with high abundance in retinal photoreceptors and neuronal tissues 2. Mechanistically, YWHAQ functions within the PI3K/AKT/FoxO3 and Nrf2-ARE pathways involved in redox homeostasis and erythroid differentiation 3. It interacts with multiple proteins including SORBS2 to regulate cell cycle progression 4. miR-16-5p post-transcriptionally regulates YWHAQ expression to control apoptosis and migration in paclitaxel-resistant breast cancer cells via Bcl-2/Bax modulation 5. Disease relevance spans multiple conditions: YWHAQ promoter hypermethylation reduces expression in preeclamptic placentas, implicating epigenetic dysregulation in pregnancy complications 1. YWHAQ is downregulated in sepsis-associated acute respiratory distress syndrome, where it serves as a diagnostic biomarker 6. DNA methylation at TAF1B-YWHAQ influences blood pressure regulation 7, and upregulation occurs in amyotrophic lateral sclerosis spinal cord, suggesting involvement in neurodegeneration 8. These findings position YWHAQ as a multi-functional adapter with therapeutic potential across cardiovascular, infectious, malignant, and neurological diseases.

Sources cited
1
YWHAQ promoter hypermethylation in preeclamptic placentas reduces 14-3-3 tau expression and TET activity
PMID: 25305692
2
YWHAQ is significantly downregulated in sepsis-associated ARDS and identified as a hub gene with diagnostic value
PMID: 40849369
3
YWHAQ interacts with SORBS2 and negatively affects cell cycle progression in left ventricular noncompaction cardiomyopathy
PMID: 35050860
4
miR-16-5p targets YWHAQ to regulate apoptosis, migration, and Bcl-2/Bax expression in paclitaxel-resistant breast cancer cells
PMID: 36329581
5
DNA methylation at TAF1B-YWHAQ locus influences blood pressure regulation independent of genetic variants
PMID: 29198723
6
YWHAQ is significantly upregulated in amyotrophic lateral sclerosis spinal cord, particularly in motor neurons
PMID: 11080204
7
YWHAQ is highly expressed in mouse retina with tissue-specific localization patterns in photoreceptors
PMID: 29486162
8
YWHAQ expression is modulated within PI3K/AKT/FoxO3 and Nrf2-ARE pathways during erythroid differentiation and oxidative stress
PMID: 36553634
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.54Moderate
neurodegenerative diseaseOpen Targets
0.47Moderate
COVID-19Open Targets
0.37Weak
severe acute respiratory syndromeOpen Targets
0.37Weak
cervical carcinomaOpen Targets
0.30Weak
cholelithiasisOpen Targets
0.27Weak
ovarian dysfunctionOpen Targets
0.23Weak
cartilage diseaseOpen Targets
0.23Weak
placenta praeviaOpen Targets
0.17Weak
retinopathyOpen Targets
0.17Weak
glomerulonephritisOpen Targets
0.16Weak
retinitis pigmentosaOpen Targets
0.10Weak
hepatocellular carcinomaOpen Targets
0.10Weak
age-related macular degenerationOpen Targets
0.09Suggestive
melanomaOpen Targets
0.09Suggestive
X-linked retinal dysplasiaOpen Targets
0.08Suggestive
cancerOpen Targets
0.08Suggestive
Progressive cone dystrophyOpen Targets
0.07Suggestive
Familial exudative vitreoretinopathyOpen Targets
0.07Suggestive
gastric cancerOpen Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CDK1Protein interaction100%CDC25BProtein interaction99%CDC25CProtein interaction99%GSK3BProtein interaction99%TFEBProtein interaction98%CDC25AProtein interaction94%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
54%
Heart
47%
Ovary
35%
Lung
26%
Liver
18%
Gene Interaction Network
Click a node to explore
YWHAQCDK1CDC25BCDC25CGSK3BTFEBCDC25A
PROTEIN STRUCTURE
Preparing viewer…
PDB6BCR · 1.99 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.46Moderately Constrained
pLIⓘ
0.99Intolerant
Observed/Expected LoF0.23 [0.13–0.46]
RankingsWhere YWHAQ stands among ~20K protein-coding genes
  • #415of 20,598
    Most Researched575 · top 5%
  • #2,547of 17,882
    Most Constrained (LOEUF)0.46 · top quartile
Genes detectedYWHAQ
Sources retrieved34 papers
Response time—
📄 Sources
34▼
1
14-3-3 tau (YWHAQ) gene promoter hypermethylation in human placenta of preeclampsia.
PMID: 25305692
Placenta · 2014
1.00
2
Identification of Candidate Synovial Fluid Biomarkers for the Prediction of Patient Outcome After Microfracture or Osteotomy.
PMID: 33787363
Am J Sports Med · 2021
0.94
3
Identification and analysis of the endoplasmic reticulum stress hub genes in sepsis-associated ARDS.
PMID: 40849369
Sci Rep · 2025
0.90
4
The interaction protein of SORBS2 in myocardial tissue to find out the pathogenic mechanism of LVNC disease.
PMID: 35050860
Aging (Albany NY) · 2022
0.80
5
Cautions should be taken when using cell models for gastric cancer research.
PMID: 34454032
Gene · 2022
0.74