TENT2 (Terminal Nucleotidyltransferase 2)
A non-canonical poly(A) polymerase involved in RNA stability and translational control
Gene Information Card
| Symbol | TENT2 |
|---|---|
| Full Name | Terminal Nucleotidyltransferase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 79682 ncbi.nlm.nih.gov/gene/79682 |
| Ensembl ID | ENSG00000161981 |
| UniProt ID | Q9NVV4 |
| OMIM ID | 617914 |
| HGNC ID | 26019 |
| Aliases | PAPD5, TRF4-2, hTRF4-2, PAP-associated domain-containing protein 5 |
Description
TENT2 (Terminal Nucleotidyltransferase 2), also known as PAPD5, encodes a non-canonical poly(A) polymerase that adds short oligo(A) tails to RNA substrates, influencing RNA stability, degradation, and translation. It is part of the TRF4 family and plays roles in ribosome biogenesis, telomere maintenance, and the DNA damage response. TENT2 is broadly expressed and its dysregulation is implicated in cancer and neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of TENT2 alters RNA polyadenylation, affecting oncogene/tumor suppressor expression | PMID: 25609687, COSMIC |
| Neurodevelopmental disorders | Mutations in TENT2 impair RNA processing in neurons, linked to intellectual disability | PMID: 28492532, ClinVar |
| Dyskeratosis congenita | TENT2 mutations disrupt telomere maintenance via altered RNA processing | PMID: 25609687, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain (cerebellum) | 8.2 | Medium |
| Heart | 6.1 | Low |
| Liver | 4.3 | Low |
| Lung | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Embryonic kidney cells |
| HeLa | 7.8 | Cervical cancer cells |
| K562 | 6.5 | Leukemia cells |
| HepG2 | 5.2 | Liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function; associated with neurodevelopmental delay |
| c.789G>A (p.Trp263*) | Nonsense | <0.1% | Loss of function; reported in dyskeratosis congenita |
| c.1456A>G (p.Thr486Ala) | Missense | 0.2% | Unknown significance; found in cancer samples |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg412*, p.Trp263*) lead to truncated, non-functional protein, impairing RNA polyadenylation and cellular RNA metabolism.
Gain of Function (GOF)
Not well documented; no recurrent activating mutations reported in literature.
Dominant Negative (DN)
Not established; TENT2 functions as part of a complex, but dominant-negative effects have not been characterized.
View complete mutation data：
Gene Ontology (GO)
| • enzyme binding (GO:0019899) | • cation binding (GO:0043169) |
| • RNA binding (GO:0003723) | • polynucleotide adenylyltransferase activity (GO:0004652) |
| • mRNA polyadenylation (GO:0006397) | • nucleus (GO:0005634) |
Pathways
• RNA degradation (Rfam)
• mRNA surveillance pathway (KEGG: hsa03015)
• Telomere maintenance (Reactome: R-HSA-171319)
Protein Summary
TENT2 is a 582-amino acid protein containing a nucleotidyltransferase domain and a PAP-associated domain. It localizes to the nucleus and functions as a non-canonical poly(A) polymerase, adding short oligo(A) tails to RNA substrates. This activity regulates RNA stability, degradation, and translation, particularly for non-coding RNAs and mRNAs involved in cell cycle and stress responses. TENT2 interacts with the TRF4-2 complex and is implicated in ribosome biogenesis and telomere maintenance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TENT2 Knockout HEK293 Cell Line | EDJ-KQ14903 | Human | 167153 | Details Get a Quote |
| TENT2 Knockout A-549 Cell Line | EDJ-KQ46591 | Human | 167153 | Details Get a Quote |
| TENT2 Knockout HCT 116 Cell Line | EDJ-KQ46593 | Human | 167153 | Details Get a Quote |
| TENT2 Knockout HeLa Cell Line | EDJ-KQ46594 | Human | 167153 | Details Get a Quote |
