YWHAG Gene - 14-3-3 Gamma
A member of the 14-3-3 family of proteins involved in signal transduction, cell cycle regulation, and apoptosis.
Gene Information Card
| Symbol | YWHAG |
|---|---|
| Full Name | tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma |
| Gene Type | protein coding |
| Chromosomal Location | 7q11.23 |
| NCBI Gene ID | 7532 ncbi.nlm.nih.gov/gene/7532 |
| Ensembl ID | ENSG00000170027 |
| UniProt ID | P61981 |
| OMIM ID | 605066 |
| HGNC ID | 12852 |
| Aliases | 14-3-3 gamma, 14-3-3G, HS1G |
Description
YWHAG encodes the gamma isoform of the 14-3-3 protein family, which are highly conserved acidic proteins that bind to phosphoserine/phosphothreonine motifs. 14-3-3 gamma is involved in diverse cellular processes including signal transduction, cell cycle control, apoptosis, and cytoskeletal organization. It acts as an adapter protein that modulates the activity of binding partners such as RAF1, BAD, and CDC25.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epileptic encephalopathy, early infantile, 56 (EIEE56) | Loss-of-function or dominant-negative mutations in YWHAG disrupt neuronal signaling and synaptic function, leading to early-onset seizures and developmental delay. | ClinVar, OMIM |
| Intellectual disability | YWHAG mutations impair 14-3-3 gamma-mediated signaling in neurons, affecting cognitive development. | ClinVar, OMIM |
| Cancer (various) | Altered expression or mutations in YWHAG may affect apoptosis and cell cycle regulation, contributing to tumorigenesis. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 35.2 | High |
| Heart | 18.5 | Medium |
| Lung | 12.1 | Medium |
| Liver | 8.3 | Low |
| Kidney | 14.7 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 22.4 | High expression |
| HeLa | 15.8 | Moderate expression |
| SH-SY5Y | 30.1 | High expression in neuronal cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.292G>A (p.Gly98Arg) | Missense | Rare | Dominant-negative; associated with EIEE56 |
| c.511C>T (p.Arg171Trp) | Missense | Rare | Loss-of-function; linked to intellectual disability |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Loss-of-function; likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Mutations that reduce or abolish 14-3-3 gamma protein expression or phosphoserine-binding activity, e.g., start loss or truncating variants.
Gain of Function (GOF)
Not well documented; no clear gain-of-function mutations reported in YWHAG.
Dominant Negative (DN)
Missense mutations (e.g., p.Gly98Arg) that disrupt dimerization or target binding, interfering with wild-type 14-3-3 gamma function.
View complete mutation data：
Gene Ontology (GO)
| • protein domain specific binding | • phosphoprotein binding |
| • signal transduction | • cell cycle |
| • apoptotic process | • negative regulation of protein kinase activity |
Pathways
• 14-3-3-mediated signaling
• Apoptosis
• Cell cycle: G1/S checkpoint
• RAF/MAP kinase cascade
Protein Summary
14-3-3 gamma is a 247-amino acid protein that forms homo- and heterodimers with other 14-3-3 family members. It contains a conserved phosphoserine/phosphothreonine-binding pocket and interacts with over 100 cellular partners. The protein is highly expressed in brain and plays critical roles in neuronal development, synaptic plasticity, and cell survival.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| YWHAG Knockout HEK293 Cell Line | EDJ-KQ1406 | Human | 7532 | Details Get a Quote |
| YWHAG Knockout A-549 Cell Line | EDJ-KQ20941 | Human | 7532 | Details Get a Quote |
| YWHAG Knockout HeLa Cell Line | EDJ-KQ20943 | Human | 7532 | Details Get a Quote |
| YWHAG Knockout HCT 116 Cell Line | EDJ-KQ19600 | Human | 7532 | Details Get a Quote |
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