TENT4B
Terminal Nucleotidyltransferase 4B
Gene Information Card
| Symbol | TENT4B |
|---|---|
| Full Name | Terminal Nucleotidyltransferase 4B |
| Gene Type | Protein coding |
| Chromosomal Location | 16q22.1 |
| NCBI Gene ID | 10644 ncbi.nlm.nih.gov/gene/10644 |
| Ensembl ID | ENSG00000140987 |
| UniProt ID | Q8N8A2 |
| OMIM ID | 605525 |
| HGNC ID | 28960 |
| Aliases | Gld4, LAK-1, PAPD5, TRF4-2 |
Description
TENT4B (terminal nucleotidyltransferase 4B) encodes a non-canonical poly(A) polymerase that adds mixed A/G tails to RNA 3' ends, regulating RNA stability and translation. It is involved in RNA surveillance, telomere maintenance, and cellular stress responses. Mutations and dysregulation of TENT4B are associated with cancer and neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with microcephaly and brain malformations | Loss-of-function mutations impair RNA polyadenylation, leading to defective neurogenesis | ClinVar, OMIM |
| Hepatocellular carcinoma | Overexpression promotes tumor growth via enhanced RNA stability | COSMIC, NCBI |
| Breast cancer | Amplification and overexpression linked to poor prognosis | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 5.4 | Low |
| Heart | 3.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HepG2 | 10.8 | Moderate expression |
| MCF7 | 7.5 | Low expression |
| K562 | 4.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Loss of function; associated with neurodevelopmental disorder |
| c.567G>A (p.Gly189Arg) | Missense | 0.01% | Reduced polyadenylation activity |
| c.890_891insA | Frameshift | 0.005% | Loss of function; reported in hepatocellular carcinoma |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein or disrupt catalytic activity.
Gain of Function (GOF)
Not well characterized; overexpression in cancer may act as a gain-of-function.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • RNA polyadenylation | • mRNA 3'-end processing |
| • nucleotidyltransferase activity | • RNA binding |
| • cytoplasm | • nucleus |
Pathways
• RNA surveillance
• Telomere maintenance via telomerase
• Non-canonical polyadenylation
Protein Summary
TENT4B is a 674-amino acid protein containing a nucleotidyltransferase domain. It catalyzes the addition of mixed A/G tails to RNA 3' ends, protecting RNAs from degradation and modulating translation. It localizes to both the nucleus and cytoplasm and interacts with RNA exosome components. The protein is essential for proper neurodevelopment and is implicated in cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TENT4B Knockout HEK293 Cell Line | EDJ-KQ15681 | Human | 64282 | Details Get a Quote |
| TENT4B Knockout A-549 Cell Line | EDJ-KQ46595 | Human | 64282 | Details Get a Quote |
| TENT4B Knockout HCT 116 Cell Line | EDJ-KQ46596 | Human | 64282 | Details Get a Quote |
| TENT4B Knockout HeLa Cell Line | EDJ-KQ46597 | Human | 64282 | Details Get a Quote |
