TLR8
toll like receptor 8, the group of CD molecules|Toll like receptors
Basic information
Region (hg38): X:12906620-12923169
Links
Phenotypes
GenCC
Source:
- immunodeficiency 98 with autoinflammation, X-linked (Limited), mode of inheritance: Unknown
Clinical Genomic Database
Source:
| Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
|---|---|---|---|---|---|
| Immunodeficiency 98 with autoinflammation, X-linked | XL | Allergy/Immunology/Infectious | Individuals may be susceptible to infections, and antiinfectious prophylaxis and early and aggressive treatment of infections may be beneficial; HSCT has been described | Allergy/Immunology/Infectious | 33512449; 34981838; 35477763 |
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (53 variants)
- not_provided (16 variants)
- Immunodeficiency_98_with_autoinflammation,_X-linked (8 variants)
- INFLTR8 (3 variants)
- TLR8-related_condition (3 variants)
- Autoimmune_hemolytic_anemia (2 variants)
- Systemic_autoinflammation (2 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the TLR8 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000138636.5. Only rare variants are included in the table.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 7 | |||||
| missense | 57 | 67 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 3 | 0 | 57 | 10 | 4 |
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| TLR8 | protein_coding | protein_coding | ENST00000218032 | 2 | 16550 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.324 | 0.676 | 125679 | 5 | 8 | 125692 | 0.0000517 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 3.08 | 218 | 389 | 0.560 | 0.0000300 | 6923 |
| Missense in Polyphen | 31 | 121.33 | 0.2555 | 2399 | ||
| Synonymous | -0.0189 | 154 | 154 | 1.00 | 0.0000118 | 2003 |
| Loss of Function | 3.31 | 5 | 21.6 | 0.231 | 0.00000171 | 410 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000760 | 0.0000615 |
| Ashkenazi Jewish | 0.000273 | 0.000198 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.000188 | 0.000139 |
| European (Non-Finnish) | 0.0000740 | 0.0000528 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.0000531 | 0.0000327 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Key component of innate and adaptive immunity. TLRs (Toll-like receptors) control host immune response against pathogens through recognition of molecular patterns specific to microorganisms. Acts via MYD88 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response. {ECO:0000269|PubMed:17932028, ECO:0000269|PubMed:23520111}.;
- Pathway
- Toll-like receptor signaling pathway - Homo sapiens (human);Regulation of toll-like receptor signaling pathway;Toll-like Receptor Signaling;Simplified Depiction of MYD88 Distinct Input-Output Pathway;Toll-like Receptor Signaling Pathway;Toll Like Receptor 7/8 (TLR7/8) Cascade;TRAF6 mediated IRF7 activation in TLR7/8 or 9 signaling;Toll Like Receptor 9 (TLR9) Cascade;Trafficking and processing of endosomal TLR;Toll-Like Receptors Cascades;Innate Immune System;Immune System;TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation;MyD88 dependent cascade initiated on endosome
(Consensus)
Recessive Scores
- pRec
- 0.193
Intolerance Scores
- loftool
- 0.288
- rvis_EVS
- -0.24
- rvis_percentile_EVS
- 36.17
Haploinsufficiency Scores
- pHI
- 0.125
- hipred
- N
- hipred_score
- 0.481
- ghis
- 0.491
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.962
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Tlr8
- Phenotype
- immune system phenotype; renal/urinary system phenotype; hematopoietic system phenotype; homeostasis/metabolism phenotype;
Gene ontology
- Biological process
- microglial cell activation;regulation of protein phosphorylation;toll-like receptor signaling pathway;MyD88-dependent toll-like receptor signaling pathway;immune response;I-kappaB kinase/NF-kappaB signaling;response to virus;immunoglobulin mediated immune response;positive regulation of interleukin-6 production;toll-like receptor 8 signaling pathway;toll-like receptor 9 signaling pathway;positive regulation of interferon-gamma biosynthetic process;innate immune response;positive regulation of innate immune response;positive regulation of interferon-alpha biosynthetic process;positive regulation of interferon-beta biosynthetic process;positive regulation of interleukin-8 biosynthetic process;positive regulation of interleukin-1 beta secretion;defense response to virus;cellular response to mechanical stimulus;positive regulation of interleukin-6 secretion;negative regulation of interleukin-12 secretion
- Cellular component
- Golgi membrane;endoplasmic reticulum membrane;plasma membrane;external side of plasma membrane;endosome membrane;integral component of membrane;endolysosome membrane
- Molecular function
- DNA binding;RNA binding;double-stranded RNA binding;single-stranded RNA binding;transmembrane signaling receptor activity;drug binding;signaling pattern recognition receptor activity;signaling receptor activity