TLR10
protein-codingtoll like receptor 10, the group of CD molecules|Toll like receptors
Gene summary
The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is most highly expressed in lymphoid tissues such as spleen, lymph node, thymus, and tonsil. Multiple alternatively spliced transcript variants which encode different protein isoforms have been found for this gene. [provided by RefSeq, Aug 2010]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~10.8 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 TLR10 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_030956.4. 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 | 4 | 4 | ||||
| missense | 95 | 7 | 102 | |||
| nonsense | 1 | 1 | 2 | |||
| start loss | 1 | 1 | ||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 97 | 7 | 5 | 109 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_112218.2 | 1 | MANE Select | |
| Ensembl | ENSP00000308925.4 | 1 | MANE Select | |
| RefSeq | NP_001017388.1 | 1 | Standard | |
| RefSeq | NP_001182035.1 | 1 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Simplified Depiction of MYD88 Distinct Input-Output Pathway
- MyD88 cascade initiated on plasma membrane
- Toll Like Receptor 10 (TLR10) Cascade
- Toll Like Receptor 5 (TLR5) Cascade
- Toll-Like Receptors Cascades
Biological Process
- toll-like receptor signaling pathway
- MyD88-dependent toll-like receptor signaling pathway
- inflammatory response
- immune response
- toll-like receptor 10 signaling pathway
Molecular Function
- transmembrane signaling receptor activity
- protein binding
- identical protein binding
Cellular Component
- plasma membrane
- integral component of plasma membrane
- membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000308973
- Coding exons
- 1
- Length
- 10752
- Individuals with no LoFs
- 125124
- Homozygous LoFs
- 6
- Heterozygous LoFs
- 612
- Defined
- 125742
- p
- 0.00246
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.237 | 391 | 404 | 0.967 | 0.0000192 | 5370 |
| Missense (PolyPhen) | 95 | 97.076 | 0.97861 | 1449 | ||
| Synonymous | 3.10 | 103 | 152 | 0.679 | 0.00000741 | 1503 |
| Loss of Function | 1.50 | 17 | 25.1 | 0.677 | 0.00000143 | 332 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.021 | 0.021 | notable |
| Latino/Admixed American | 0.0020 | 0.0019 | notable |
| Ashkenazi Jewish | 0.0020 | 0.0019 | notable |
| East Asian | 0.0011 | 0.0011 | notable |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.00081 | 0.00078 | rare |
| South Asian | 0.0025 | 0.0023 | notable |
| Other | 0.0031 | 0.0029 | notable |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Participates in the innate immune response to microbial agents. Acts via MYD88 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response (By similarity). {ECO:0000250}.;
Recessive Scores
- pRec
- 0.217
Intolerance Scores
- LoFtool
- 0.285
- RVIS EVS
- 2.32
- RVIS percentile EVS
- 98.36
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.333
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | High | Medium | High |
| Primary Immunodeficiency | High | High | High |
| Cancer | High | High | High |