YWHAH
Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Eta
Gene Information Card
| Symbol | YWHAH |
|---|---|
| Full Name | Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Eta |
| Gene Type | Protein coding |
| Chromosomal Location | 22q12.3 |
| NCBI Gene ID | 7533 ncbi.nlm.nih.gov/gene/7533 |
| Ensembl ID | ENSG00000128274 |
| UniProt ID | Q04917 |
| OMIM ID | 601289 |
| HGNC ID | 12855 |
| Aliases | 14-3-3 eta, YWHA1 |
Description
YWHAH encodes the eta isoform of the 14-3-3 family of proteins, which are highly conserved adaptor molecules that bind to phosphoserine/phosphothreonine motifs. 14-3-3 eta regulates signal transduction, cell cycle control, apoptosis, and cytoskeletal dynamics by modulating the activity, localization, and stability of client proteins. The gene is located on chromosome 22q12.3 and is expressed in multiple tissues, with highest levels in brain.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alzheimer disease | 14-3-3 eta is elevated in cerebrospinal fluid and may reflect neurodegeneration; involved in tau phosphorylation regulation | ClinVar, PMID: 23571586 |
| Creutzfeldt-Jakob disease | 14-3-3 eta is a diagnostic biomarker in CSF; released upon neuronal damage | ClinVar, PMID: 10610160 |
| Schizophrenia | YWHAH polymorphisms associated with altered 14-3-3 eta expression affecting dopamine signaling | OMIM, PMID: 15640935 |
| Lung cancer | YWHAH overexpression linked to poor prognosis; promotes cell proliferation via AKT pathway | COSMIC, PMID: 23327982 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 31.2 | High |
| Testis | 12.8 | Medium |
| Lung | 8.5 | Medium |
| Heart | 6.1 | Low |
| Liver | 3.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 28.5 | Neuroblastoma cell line |
| HEK293 | 15.2 | Embryonic kidney |
| A549 | 10.1 | Lung carcinoma |
| MCF7 | 7.8 | Breast cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.94G>A (p.Gly32Arg) | Missense | <0.01% | Altered phosphoprotein binding; reported in ClinVar as uncertain significance |
| c.208C>T (p.Arg70Cys) | Missense | <0.01% | Potential loss of function; associated with neurodevelopmental phenotypes |
| c.376G>A (p.Gly126Ser) | Missense | <0.01% | Reported in COSMIC in lung adenocarcinoma |
Mutation functional classification
Loss of Function (LOF)
p.Arg70Cys may reduce binding affinity to phosphoserine motifs, impairing 14-3-3 mediated signaling.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported.
Dominant Negative (DN)
p.Gly32Arg may act as dominant negative by competing with wild-type 14-3-3 eta for client binding.
View complete mutation data：
Gene Ontology (GO)
Pathways
• PI3K-Akt signaling pathway (KEGG: hsa04151)
• Neurotrophin signaling pathway (KEGG: hsa04722)
• Apoptosis (Reactome: R-HSA-109581)
Protein Summary
14-3-3 protein eta (UniProt Q04917) is a 246-amino acid homodimeric adaptor protein that binds to phosphorylated serine/threonine residues on target proteins. It is involved in diverse cellular processes including signal transduction, cell cycle regulation, and apoptosis. The protein is highly expressed in brain and is used as a diagnostic marker for Creutzfeldt-Jakob disease. Mutations in YWHAH are rare but may contribute to neurodevelopmental disorders and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| YWHAH Knockout HEK293 Cell Line | EDJ-KQ1405 | Human | 7533 | Details Get a Quote |
| YWHAH Knockout A-549 Cell Line | EDJ-KQ20938 | Human | 7533 | Details Get a Quote |
| YWHAH Knockout HCT 116 Cell Line | EDJ-KQ20939 | Human | 7533 | Details Get a Quote |
| YWHAH Knockout HeLa Cell Line | EDJ-KQ20940 | Human | 7533 | Details Get a Quote |
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