TNRC18: Trinucleotide Repeat Containing 18
A gene encoding a protein involved in chromatin regulation and implicated in neurodevelopmental disorders.
Gene Information Card
| Symbol | TNRC18 |
|---|---|
| Full Name | Trinucleotide Repeat Containing 18 |
| Gene Type | Protein coding |
| Chromosomal Location | 7p22.1 |
| NCBI Gene ID | 84620 ncbi.nlm.nih.gov/gene/84620 |
| Ensembl ID | ENSG00000106333 |
| UniProt ID | Q6P5W5 |
| OMIM ID | 610785 |
| HGNC ID | 11962 |
| Aliases | TNRC18A, CAGL79, KIAA1856, FLJ20032 |
Description
TNRC18 (Trinucleotide Repeat Containing 18) is a protein-coding gene located on chromosome 7p22.1. The encoded protein contains a trinucleotide repeat region and is involved in chromatin regulation, particularly as a component of the HUSH complex, which mediates transcriptional silencing. TNRC18 is ubiquitously expressed and has been associated with neurodevelopmental disorders and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with hypotonia and brain abnormalities | Loss-of-function mutations in TNRC18 disrupt chromatin silencing, leading to dysregulated gene expression in neurons. | ClinVar, OMIM |
| Intellectual disability | De novo missense variants in TNRC18 impair protein function, affecting synaptic development. | ClinVar, OMIM |
| Breast cancer | Somatic mutations and altered expression of TNRC18 may contribute to tumor progression via epigenetic dysregulation. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Lung | 6.7 | Low |
| Liver | 4.2 | Not detected |
| Heart | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | Embryonic kidney cells |
| HeLa | 7.8 | Cervical cancer cells |
| SH-SY5Y | 9.5 | Neuroblastoma cells |
| HepG2 | 3.4 | Hepatocellular carcinoma cells |
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.Trp189*) | Nonsense | Rare | Loss of function; reported in ClinVar |
| c.890A>G (p.Tyr297Cys) | Missense | Rare | Uncertain significance; potential gain-of-function |
| c.2101_2103del (p.Phe701del) | In-frame deletion | Rare | Likely damaging; disrupts protein structure |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to premature stop codons or truncated protein, resulting in loss of chromatin silencing activity.
Gain of Function (GOF)
Missense variants (e.g., p.Tyr297Cys) may alter protein conformation, potentially enhancing or misdirecting chromatin binding.
Dominant Negative (DN)
Not clearly established; some in-frame deletions may interfere with wild-type TNRC18 function in multimeric complexes.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • chromatin organization (GO:0006325) | • nucleosome positioning (GO:0016584) |
| • negative regulation of gene expression (GO:0045814) |
Pathways
• HUSH complex-mediated silencing
• Chromatin modification
Protein Summary
The TNRC18 protein is a nuclear protein containing a trinucleotide repeat region and is a component of the HUSH (Human Silencing Hub) complex. It functions in chromatin regulation by promoting transcriptional silencing through histone modification and nucleosome positioning. TNRC18 is ubiquitously expressed, with highest levels in brain and testis. Mutations in TNRC18 are linked to neurodevelopmental disorders, and somatic alterations have been observed in cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TNRC18 Knockout HEK293 Cell Line | EDJ-KQ10138 | Human | 84629 | Details Get a Quote |
| TNRC18 Knockout HCT 116 Cell Line | EDJ-KQ36009 | Human | 84629 | Details Get a Quote |
| TNRC18 Knockout A-549 Cell Line | EDJ-KQ37239 | Human | 84629 | Details Get a Quote |
| TNRC18 Knockout HeLa Cell Line | EDJ-KQ37240 | Human | 84629 | Details Get a Quote |
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