TRIL
protein-codingTLR4 interactor with leucine rich repeats
Gene summary
TRIL is a component of the TLR4 (MIM 603030) complex and is induced in a number of cell types by lipopolysaccharide (LPS) (Carpenter et al., 2009 [PubMed 19710467]).[supplied by OMIM, Apr 2010]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~5.0 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to TRIL variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_014817.4. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 121 | 3 | 124 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 121 | 3 | 0 | 124 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_055632.2 | 1 | MANE Select | |
| Ensembl | ENSP00000479256.1 | 1 | MANE Select |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- regulation of cytokine production involved in immune response
- inflammatory response
- toll-like receptor 4 signaling pathway
- innate immune response
Molecular Function
- lipopolysaccharide binding
Cellular Component
- extracellular space
- extracellular matrix
- lipopolysaccharide receptor complex
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Component of the TLR4 signaling complex. Mediate the innate immune response to bacterial lipopolysaccharide (LPS) leading to cytokine secretion. {ECO:0000269|PubMed:19710467}.;
Essentials
- Indispensability pred.
- N
- Indispensability score
- 0.283