TLR7 Chromosome X
Toll like receptor 7
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What This Gene Does
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]
Gene Info
Gene Group
Toll like receptors
Locus Type
gene with protein product
Location
Xp22.2
Ensembl
ENSG00000196664
Associated Conditions (6)
TLR7-related disorder
Immunodeficiency 74
COVID-19-related
X-linked
Systemic lupus erythematosus 17
Systemic lupus erythematosus
Key Variants
RS147244662
Conflicting classifications of pathogenicity
Health Risk
RS201304033
Conflicting classifications of pathogenicity
TLR7-related disorder, TLR7-related disorder
Health Risk
RS200553089
Pathogenic
Immunodeficiency 74, COVID-19-related, X-linked
Health Risk
RS2042915990
Pathogenic
Immunodeficiency 74, COVID-19-related, X-linked
Health Risk
RS2147245261
Pathogenic
Systemic lupus erythematosus 17, Systemic lupus erythematosus 17
Health Risk
RS2147245859
Pathogenic
Systemic lupus erythematosus 17, Systemic lupus erythematosus, Systemic lupus erythematosus 17
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS147244662 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201304033 | Health Risk | Conflicting classifications of pathogenicity | TLR7-related disorder, TLR7-related disorder |
| RS200553089 | Health Risk | Pathogenic | Immunodeficiency 74, COVID-19-related, X-linked |
| RS2042915990 | Health Risk | Pathogenic | Immunodeficiency 74, COVID-19-related, X-linked |
| RS2147245261 | Health Risk | Pathogenic | Systemic lupus erythematosus 17, Systemic lupus erythematosus 17 |
| RS2147245859 | Health Risk | Pathogenic | Systemic lupus erythematosus 17, Systemic lupus erythematosus, Systemic lupus erythematosus 17 |