TLR7

Chr XXLRXLD

toll like receptor 7

Also known as: IMD74, SLEB17, TLR7-like

NCBI Gene: 51284 ENSG00000196664 UniProt: Q9NYK1 OMIM: 300365

TLR7 encodes an endosomal receptor that recognizes single-stranded RNA from viruses and activates innate immune responses by triggering cytokine and interferon production. Mutations cause X-linked immunodeficiency with increased susceptibility to severe COVID-19 infections and X-linked systemic lupus erythematosus. The gene is highly constrained against loss-of-function mutations and shows both X-linked recessive and dominant inheritance patterns.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

XLR/XLDLOEUF 0.302 OMIM phenotypes

Clinical Summary— TLR7

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Gene-Disease Validity (ClinGen)

systemic lupus erythematosus 17 · XLModerate

Moderate evidence — consider for supplementary testing

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Population Constraint (gnomAD)

Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.98). One damaged copy is likely sufficient to cause disease.

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Clinical Trials

7 active or recruiting trials — potential therapeutic options may be available

Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

LoF intolerant — likely haploinsufficient

LoF Constraint

0.30LOEUF

pLI 0.979

Z-score 3.80

OE 0.10 (0.04–0.30)

Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint

3.01Z-score

OE missense 0.56 (0.50–0.63)

205 obs / 367.6 exp

Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios

LoF OE0.10 (0.04–0.30)

0≤0.351.4

Missense OE0.56 (0.50–0.63)

0≤0.61.4

Synonymous OE1.05

0≤1.21.6

LoF obs/exp: 2 / 20.7Missense obs/exp: 205 / 367.6Syn Z: -0.53

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TLR7 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

External Resources

Links to major genomics databases and tools

Franklin by Genoox

AI-powered variant curation and clinical analysis

DECIPHER

Genomic variants and phenotypes in rare disease patients

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

Systemic Lupus Erythematosus (SLE)Cutaneous Lupus Erythematosus (CLE)

A Study of Enpatoran in Participants With Cutaneous Manifestations of Lupus With or Without Systemic Disease

RECRUITING

NCT07332481Phase PHASE3EMD Serono Research & Development Institute, Inc.Started 2026-03-10

EnpatoranPlaceboStandard of care (SoC)

Systematic Lupus ErythematosusCutaneous Lupus Erythematosus

A Study of Enpatoran in Participants With Cutaneous Manifestations of Lupus With or Without Systemic Disease (ELOWEN-2)

RECRUITING

NCT07355218Phase PHASE3EMD Serono Research & Development Institute, Inc.Started 2026-04-01

EnpatoranPlaceboStandard of care (SoC)

Glioma

Clinical Study for the Safety and Therapeutic Efficacy of the AI-QMMM Designed TamavaqTM Personalised Vaccine in Patients With Newly Diagnosed Glioma.

RECRUITING

NCT07077616Phase EARLY_PHASE1Biogenea Pharmaceuticals Ltd.Started 2025-07-01

Biological: personalized vaccine Based on genetic and transcriptional sequencing information, personalized peptide vaccines would be designed and produced;

Myeloproliferative DiseaseCOVID - 19

Autoantibodies Against Type I Interferon in Patients Affected With Ph-negative Myeloproliferative Neoplasms (MPN-IFN Study)

ACTIVE NOT RECRUITING

NCT07204366Fondazione IRCCS Policlinico San Matteo di PaviaStarted 2022-05-06

Oral LeukoplakiaOral Leukoplakia of TongueOral Leukoplakia of Gingiva

Prediction of Malignant Transformation of Oral Leukoplakia Using a MAGE-A-based Immunoscore

RECRUITING

NCT03975322University of Erlangen-Nürnberg Medical SchoolStarted 2019-12-01

Chronic Spontaneous Urticaria (CSU)Hidradenitis Suppurativa (HS)Psoriasis (PsO)