TNRC6B Gene
Trinucleotide Repeat Containing Adaptor 6B
Gene Information Card
| Symbol | TNRC6B |
|---|---|
| Full Name | Trinucleotide Repeat Containing Adaptor 6B |
| Gene Type | Protein coding |
| Chromosomal Location | 22q13.1 |
| NCBI Gene ID | 23112 ncbi.nlm.nih.gov/gene/23112 |
| Ensembl ID | ENSG00000100354 |
| UniProt ID | Q9UPQ9 |
| OMIM ID | 610740 |
| HGNC ID | 29190 |
| Aliases | KIAA1093, FLJ10036, GW182, TNRC6B-AS1 |
Description
TNRC6B encodes a member of the GW182 protein family, which are essential components of the miRNA-induced silencing complex (miRISC). The protein contains multiple glycine-tryptophan (GW) repeats and interacts with Argonaute proteins to mediate mRNA deadenylation and translational repression. TNRC6B is involved in post-transcriptional gene regulation, including silencing of target mRNAs by microRNAs. Alternative splicing generates multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Altered TNRC6B expression may disrupt miRNA-mediated tumor suppressor regulation, contributing to oncogenesis. | COSMIC; PMID: 23535649 |
| Breast cancer | TNRC6B copy number loss and reduced expression observed in invasive ductal carcinoma, potentially affecting miRNA silencing of oncogenes. | COSMIC; PMID: 25217961 |
| Neurodevelopmental disorders | Rare TNRC6B variants identified in individuals with intellectual disability and autism spectrum disorder, suggesting role in neuronal miRNA regulation. | ClinVar; PMID: 28135719 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Brain | 15.2 | Medium |
| Ovary | 12.8 | Medium |
| Lung | 8.1 | Low |
| Liver | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.4 | Embryonic kidney; high expression |
| HeLa | 12.1 | Cervical carcinoma; moderate expression |
| K562 | 9.7 | Leukemia; moderate expression |
| HepG2 | 6.2 | Hepatocellular carcinoma; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function; predicted nonsense-mediated decay |
| c.2567_2568del (p.Gln856Argfs*3) | Frameshift | <0.01% | Loss of function; truncated protein |
| c.3452A>G (p.Asn1151Ser) | Missense | 0.02% | Unknown significance; may affect GW repeat domain |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants leading to premature stop codons or truncated protein, likely resulting in haploinsufficiency or loss of miRISC function.
Gain of Function (GOF)
No documented gain-of-function mutations in TNRC6B.
Dominant Negative (DN)
No evidence for dominant-negative effects; most pathogenic variants are loss-of-function.
View complete mutation data：
Gene Ontology (GO)
| • miRNA binding (GO:0035198) | • RNA binding (GO:0003723) |
| • mRNA deadenylation (GO:0000289) | • gene silencing by miRNA (GO:0035195) |
| • P-body (GO:0000932) | • cytoplasmic stress granule (GO:0010494) |
Pathways
• miRNA-mediated gene silencing (R-HSA-5358341)
• Formation of RISC complex (R-HSA-426486)
• Deadenylation-dependent mRNA decay (R-HSA-429947)
Protein Summary
TNRC6B is a 1701-amino acid protein (UniProt Q9UPQ9) belonging to the GW182 family. It contains an N-terminal Argonaute-binding domain with multiple GW repeats, a central ubiquitin-associated (UBA) domain, and a C-terminal silencing domain. The protein localizes to cytoplasmic P-bodies and stress granules, where it recruits deadenylase complexes to miRNA-targeted mRNAs. TNRC6B is essential for miRNA-mediated translational repression and mRNA decay. Its expression is highest in testis and brain, suggesting roles in gametogenesis and neuronal function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TNRC6B Knockout HEK293 Cell Line | EDJ-KQ7841 | Human | 23112 | Details Get a Quote |
| TNRC6B Knockout A-549 Cell Line | EDJ-KQ33391 | Human | 23112 | Details Get a Quote |
| TNRC6B Knockout HCT 116 Cell Line | EDJ-KQ33392 | Human | 23112 | Details Get a Quote |
| TNRC6B Knockout HeLa Cell Line | EDJ-KQ33393 | Human | 23112 | Details Get a Quote |
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