YWHAB: 14-3-3 Beta/Alpha Protein, Key Adaptor in Cell Signaling
Comprehensive gene card for YWHAB, encoding the 14-3-3 beta/alpha protein involved in signal transduction, cell cycle regulation, and apoptosis.
Gene Information Card
| Symbol | YWHAB |
|---|---|
| Full Name | tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein beta |
| Gene Type | protein coding |
| Chromosomal Location | 20q13.12 |
| NCBI Gene ID | 7529 ncbi.nlm.nih.gov/gene/7529 |
| Ensembl ID | ENSG00000166913 |
| UniProt ID | P31946 |
| OMIM ID | 601289 |
| HGNC ID | 12849 |
| Aliases | 14-3-3 beta, 14-3-3 alpha, GW128, HS1, KCIP-1, YWHAB |
Description
YWHAB encodes a member of the 14-3-3 family of proteins, specifically the beta/alpha isoform. These proteins are highly conserved and function as adaptor molecules that bind to phosphoserine/phosphothreonine motifs, modulating the activity, localization, and stability of a wide range of signaling proteins. YWHAB is involved in critical cellular processes including signal transduction, cell cycle control, apoptosis, and cytoskeletal organization. The gene is located on chromosome 20q13.12 and is widely expressed across tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered expression and mutations in YWHAB disrupt 14-3-3 beta/alpha binding to phosphoproteins, affecting apoptosis and proliferation pathways. | COSMIC; multiple studies in breast, lung, and colorectal cancers |
| Neurodegenerative disorders (e.g., Alzheimer's disease) | 14-3-3 beta/alpha interacts with tau and other proteins; dysregulation may contribute to tau pathology. | ClinVar; literature reports |
| Schizophrenia | Genetic variants in YWHAB have been associated with schizophrenia risk in some populations. | OMIM 601289; association studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 45.2 | High |
| Heart | 38.1 | High |
| Lung | 22.5 | Medium |
| Liver | 18.7 | Medium |
| Kidney | 30.4 | High |
| Testis | 15.3 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 52.0 | High expression; commonly used for functional studies |
| HeLa | 41.5 | High expression; cervical cancer line |
| A549 | 28.3 | Medium expression; lung carcinoma |
| MCF7 | 35.8 | High expression; breast cancer line |
| K562 | 19.2 | Medium expression; leukemia line |
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) | Alters phosphoprotein binding affinity; potential gain-of-function |
| c.205C>T (p.Arg69Trp) | Missense | 0.01% (COSMIC) | May disrupt dimerization; loss-of-function suspected |
| c.418A>G (p.Asn140Asp) | Missense | 0.01% (COSMIC) | Located in ligand-binding domain; effect unclear |
Mutation functional classification
Loss of Function (LOF)
Mutations that impair 14-3-3 beta/alpha binding to phosphoserine/phosphothreonine motifs, reducing its adaptor function in signaling pathways (e.g., p.Arg69Trp).
Gain of Function (GOF)
Mutations that enhance binding affinity or alter target specificity, potentially promoting oncogenic signaling (e.g., p.Glu32Lys).
Dominant Negative (DN)
Mutations that produce a protein capable of dimerizing with wild-type 14-3-3 isoforms but disrupting normal function, though not well-documented for YWHAB.
View complete mutation data：
Gene Ontology (GO)
Pathways
• PI3K-Akt signaling pathway (KEGG hsa04151)
• Apoptosis (KEGG hsa04210)
• Cell cycle (KEGG hsa04110)
• Neurotrophin signaling pathway (KEGG hsa04722)
• 14-3-3-mediated signaling (Reactome R-HSA-194315)
Protein Summary
The 14-3-3 beta/alpha protein encoded by YWHAB is a 246-amino acid adaptor that forms homo- and heterodimers with other 14-3-3 family members. It binds to phosphorylated serine/threonine residues on target proteins, regulating their activity, subcellular localization, and interactions. Key targets include RAF kinases, BAD, and transcription factors. The protein is ubiquitously expressed and plays roles in cell survival, proliferation, and differentiation. Dysregulation is linked to cancer and neurological disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| YWHAB Knockout HEK293 Cell Line | EDJ-KQ879 | Human | 7529 | Details Get a Quote |
| YWHAB Knockout A-549 Cell Line | EDJ-KQ19700 | Human | 7529 | Details Get a Quote |
| YWHAB Knockout HCT 116 Cell Line | EDJ-KQ19701 | Human | 7529 | Details Get a Quote |
| YWHAB Knockout HeLa Cell Line | EDJ-KQ19702 | Human | 7529 | Details Get a Quote |
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