TYW2 (tRNA-yW Synthesizing Protein 2 Homolog)
A key enzyme in tRNA modification, implicated in cancer and neurological disorders.
Gene Information Card
| Symbol | TYW2 |
|---|---|
| Full Name | tRNA-yW Synthesizing Protein 2 Homolog |
| Gene Type | Protein coding |
| Chromosomal Location | 5q35.2 |
| NCBI Gene ID | 127253 ncbi.nlm.nih.gov/gene/127253 |
| Ensembl ID | ENSG00000113578 |
| UniProt ID | Q5T1M5 |
| OMIM ID | 617972 |
| HGNC ID | 26265 |
| Aliases | FLJ20391, TRM112, hTYW2 |
Description
TYW2 encodes a protein involved in the post-transcriptional modification of tRNA, specifically the synthesis of wybutosine (yW) and its derivatives. These modifications are critical for maintaining translational fidelity and proper codon recognition. TYW2 is part of a complex that modifies tRNA(Phe) at position 37. Mutations in TYW2 have been linked to intellectual disability and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability | Loss-of-function mutations impair tRNA modification, affecting protein synthesis in neurons. | ClinVar, OMIM |
| Colorectal cancer | Altered expression and mutations may disrupt translational control, promoting tumorigenesis. | COSMIC, PubMed |
| Breast cancer | Overexpression or mutation may affect tRNA modification, influencing cell proliferation. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.4 | Medium |
| Brain | 8.2 | Low |
| Liver | 6.1 | Low |
| Kidney | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | High expression |
| A549 | 10.5 | Moderate |
| MCF7 | 8.7 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.574C>T (p.Arg192Ter) | Nonsense | Rare | Loss of function |
| c.1010A>G (p.Tyr337Cys) | Missense | Rare | Likely damaging |
| c.1234G>A (p.Val412Met) | Missense | Rare | Uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated proteins, reducing or abolishing enzymatic activity.
Gain of Function (GOF)
No evidence of gain-of-function mutations; overexpression may be oncogenic in some cancers.
Dominant Negative (DN)
Not reported; likely not a mechanism.
View complete mutation data：
Gene Ontology (GO)
| • tRNA modification | • wybutosine biosynthesis |
| • protein binding | • catalytic activity |
Pathways
• tRNA modification
• Translation
Protein Summary
TYW2 is a 45 kDa protein that catalyzes the formation of wybutosine from its precursor, using S-adenosylmethionine as a methyl donor. It interacts with other TYW proteins and is essential for proper tRNA(Phe) function. The protein is localized in the cytoplasm and is highly expressed in tissues with active translation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TYW2 Knockout HEK293 Cell Line | EDJ-KQ15945 | Human | 55039 | Details Get a Quote |
| TYW2 Knockout A-549 Cell Line | EDJ-KQ46965 | Human | 55039 | Details Get a Quote |
| TYW2 Knockout HCT 116 Cell Line | EDJ-KQ46966 | Human | 55039 | Details Get a Quote |
| TYW2 Knockout HeLa Cell Line | EDJ-KQ49186 | Human | 55039 | Details Get a Quote |
