TLR7

Chr XXLRXLD

toll like receptor 7

Also known as: IMD74, SLEB17, TLR7-like

NCBI Gene: 51284ENSG00000196664UniProt: Q9NYK1OMIM: 300365

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. The human TLR family comprises 11 members. 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. For the recognition of structural components in foreign microorganisms, the various TLRs exhibit different patterns of expression as well; in this way for example, TLR-3, -7, and -8 are essential in the recognition of single-stranded RNA viruses. TLR7 senses single-stranded RNA oligonucleotides containing guanosine- and uridine-rich sequences from RNA viruses, a recognition occuring in the endosomes of plasmacytoid dendritic cells and B cells. This gene is predominantly expressed in lung, placenta, and spleen, and is phylogenetically related and lies in close proximity to another family member, TLR8, on chromosome X. [provided by RefSeq, Aug 2020]

GeneReviewsOMIMResearchGenerating clinical summary…
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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ClinVar Variants
7 unique Pathogenic / Likely Pathogenic· 179 VUS of 366 total submissions
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Clinical Trials
6 active or recruiting trials — potential therapeutic options may be available
Explore recent and relevant literature in Research Assistant →
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GeneReview available — TLR7
Authoritative clinical overview · Recommended first read
Open GeneReview ↗

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 OE?0.10 (0.04–0.30)
0≤0.351.4
Missense OE?0.56 (0.50–0.63)
0≤0.61.4
Synonymous OE?1.05
0≤1.21.6
LoF obs/exp: 2 / 20.7Missense obs/exp: 205 / 367.6Syn Z: -0.53

ClinVar Variant Classifications

366 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic5
Likely Pathogenic2
VUS179
Likely Benign125
Benign9
Conflicting3
5
Pathogenic
2
Likely Pathogenic
179
VUS
125
Likely Benign
9
Benign
3
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
1
4
0
0
5
Likely Pathogenic
2
0
0
0
2
VUS
6
172
1
0
179
Likely Benign
0
2
6
117
125
Benign
0
1
0
8
9
Conflicting
—3
Total91797125323

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

78 pathogenic / likely-pathogenic (of 81) ClinVar copy-number / structural variants overlap TLR7 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →

Protein Context — Lollipop Plot

TLR7 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
Chronic Spontaneous Urticaria (CSU)Hidradenitis Suppurativa (HS)Psoriasis (PsO)

SKIN Disease Profiling by an Exploratory, pRospective, Biomarker Study in dermatoloGY Practice (SKINERGY)

RECRUITING
NCT07021495Leiden University Medical CenterStarted 2025-07-29
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
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)
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;
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)
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

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