THNSL2 Gene
Threonine Synthase Like 2
Gene Information Card
| Symbol | THNSL2 |
|---|---|
| Full Name | Threonine Synthase Like 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 2p11.2 |
| NCBI Gene ID | 55258 ncbi.nlm.nih.gov/gene/55258 |
| Ensembl ID | ENSG00000144136 |
| UniProt ID | Q86YJ6 |
| OMIM ID | 614552 |
| HGNC ID | 23786 |
| Aliases | FLJ10707, MGC138290 |
Description
THNSL2 (Threonine Synthase Like 2) is a protein-coding gene located on chromosome 2p11.2. It encodes a protein with homology to threonine synthase, an enzyme involved in amino acid biosynthesis. The precise biological function of THNSL2 in humans is not fully characterized, but it is predicted to play a role in metabolic processes. Expression data indicate broad tissue distribution with highest levels in the brain and testis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease associations | Not established | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.2 | Medium |
| Testis | 6.5 | Medium |
| Kidney | 4.1 | Low |
| Liver | 3.0 | Low |
| Heart | 2.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 5.0 | Moderate expression |
| HeLa | 3.2 | Low expression |
| K562 | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
Not established
Gain of Function (GOF)
Not established
Dominant Negative (DN)
Not established
View complete mutation data：
Gene Ontology (GO)
| • catalytic activity (GO:0003824) | • transferase activity, transferring nitrogenous groups (GO:0016769) |
Pathways
• No curated pathways
Protein Summary
THNSL2 encodes a 489-amino acid protein with a predicted molecular weight of approximately 54 kDa. The protein contains a conserved domain similar to threonine synthase, suggesting a role in amino acid metabolism. Subcellular localization is predicted to be cytoplasmic. Structural studies are limited, and functional validation is ongoing.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| THNSL2 Knockout HEK293 Cell Line | EDJ-KQ15723 | Human | 55258 | Details Get a Quote |
| THNSL2 Knockout HeLa Cell Line | EDJ-KQ56564 | Human | 55258 | Details Get a Quote |
| THNSL2 Knockout A-549 Cell Line | EDJ-KQ65060 | Human | 55258 | Details Get a Quote |
| THNSL2 Knockout HCT 116 Cell Line | EDJ-KQ73505 | Human | 55258 | Details Get a Quote |
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