TMA16 Translation Machinery Associated 16
Ribosome biogenesis factor and translational regulator
Gene Information Card
| Symbol | TMA16 |
|---|---|
| Full Name | Translation Machinery Associated 16 |
| Gene Type | Protein coding |
| Chromosomal Location | 4q31.3 |
| NCBI Gene ID | 112574 ncbi.nlm.nih.gov/gene/112574 |
| Ensembl ID | ENSG00000138614 |
| UniProt ID | Q96EY1 |
| OMIM ID | 617122 |
| HGNC ID | 28036 |
| Aliases | C4orf16, FLJ20604 |
Description
TMA16 encodes a protein involved in ribosome biogenesis and translation initiation. It is a component of the small ribosomal subunit and facilitates mRNA binding and translation efficiency. The gene is ubiquitously expressed with highest levels in testis and lymphoid tissues.
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 |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 9.8 | Medium |
| Brain | 6.2 | Low |
| Liver | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 8.3 | Moderate expression |
| K562 | 7.1 | Moderate expression |
| HeLa | 5.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported pathogenic variants | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
Not characterized
Gain of Function (GOF)
Not characterized
Dominant Negative (DN)
Not characterized
View complete mutation data：
Gene Ontology (GO)
| • translation (GO:0006412) | • RNA binding (GO:0003723) |
| • nucleolus (GO:0005730) | • cytosolic large ribosomal subunit (GO:0022625) |
Pathways
• Ribosome (KEGG: hsa03010)
• Eukaryotic translation initiation (Reactome: R-HSA-72649)
Protein Summary
TMA16 is a 244-amino acid protein localized to the nucleolus and cytoplasm. It binds RNA and is part of the large ribosomal subunit, supporting translation initiation and ribosome assembly. Its exact molecular function remains under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TMA16 Knockout HEK293 Cell Line | EDJ-KQ51445 | Human | 55319 | Details Get a Quote |
| TMA16 Knockout HeLa Cell Line | EDJ-KQ56577 | Human | 55319 | Details Get a Quote |
| TMA16 Knockout A-549 Cell Line | EDJ-KQ65074 | Human | 55319 | Details Get a Quote |
| TMA16 Knockout HCT 116 Cell Line | EDJ-KQ73518 | Human | 55319 | Details Get a Quote |
