Gene Gene information from NCBI Gene database.
Entrez ID 51284
Gene name Toll like receptor 7
Gene symbol TLR7
Synonyms (NCBI Gene)
IMD74SLEB17TLR7-like
Chromosome X
Chromosome location Xp22.2
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 func
miRNA miRNA information provided by mirtarbase database.
298
miRTarBase ID miRNA Experiments Reference
MIRT438602 hsa-miR-758-3p Luciferase reporter assayWestern blotqRT-PCR 25008898
MIRT438602 hsa-miR-758-3p Luciferase reporter assayWestern blotqRT-PCR 25008898
MIRT684099 hsa-miR-106a-5p HITS-CLIP 23313552
MIRT684098 hsa-miR-106b-5p HITS-CLIP 23313552
MIRT684097 hsa-miR-17-5p HITS-CLIP 23313552
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
NFKB1 Activation 16423052;20658750
RELA Activation 16423052;20658750
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
70
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane TAS
GO:0000165 Process MAPK cascade IEA
GO:0002224 Process Toll-like receptor signaling pathway IBA
GO:0002376 Process Immune system process IEA
GO:0003725 Function Double-stranded RNA binding IDA 16111635
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300365 15631 ENSG00000196664
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NYK1
Protein name Toll-like receptor 7
Protein function Endosomal receptor that plays a key role in innate and adaptive immunity (PubMed:14976261, PubMed:32433612). Controls host immune response against pathogens through recognition of uridine-containing single strand RNAs (ssRNAs) of viral origin or
PDB 7CYN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13855 LRR_8 496 554 Leucine rich repeat Repeat
PF00560 LRR_1 700 743 Leucine Rich Repeat Repeat
PF01582 TIR 890 1048 TIR domain Family
Tissue specificity TISSUE SPECIFICITY: Detected in brain, placenta, spleen, stomach, small intestine, lung and in plasmacytoid pre-dendritic cells. Expressed in peripheral mononuclear blood cells (PubMed:32706371). {ECO:0000269|PubMed:32706371}.
Sequence
MVFPMWTLKRQILILFNIILISKLLGARWFPKTLPCDVTLDVPKNHVIVDCTDKHLTEIP
GGIPTNTTNLTLTINHIPDISPASFHRLDHLVEIDFRCNCVPIPLGSKNNMCIKRLQIKP
RSFSGLTYLKSLYLDGNQLLEIPQGLPPSLQLLSLEANNIFSIRKENLTELANIEILYLG
QNCYYRNPCYVSYSIEKDAFLNLTKLKVLSLKDNNVTAVPTVLPSTLTELYLYNNMIAKI
QEDDFNNLNQLQILDLSGNCPRCYNAPFPCAPCKNNSPLQIPVNAFDALTELKVLRLHSN
SLQHVPPRWFKNINKLQELDLSQNFLAKEIGDAKFLHFLPSLIQLDLSFNFELQVYRASM
NLSQAFSSLKSLKILRIRGYVFKELKSFNLSPLHNLQNLEVLDLGTNFIKIANLSMFKQF
KRLKVIDLSVNKISPSGDSSEVGFCSNARTSVESYEPQVLEQLHYFRYDKYARSCRFKNK
EASFMSVNESCYKYGQTLDLSKNSIFFVKSSDFQHLSFLKCLNLSGNLISQTLNGSEFQP
LAELRYLDFSNNRL
DLLHSTAFEELHKLEVLDISSNSHYFQSEGITHMLNFTKNLKVLQK
LMMNDNDISSSTSRTMESESLRTLEFRGNHLDVLWREGDNRYLQLFKNLLKLEELDISKN
SLSFLPSGVFDGMPPNLKNLSLAKNGLKSFSWKKLQCLKNLETLDLSHNQLTTVPERLSN
CSRSLKNLILKNNQIRSLTKYFL
QDAFQLRYLDLSSNKIQMIQKTSFPENVLNNLKMLLL
HHNRFLCTCDAVWFVWWVNHTEVTIPYLATDVTCVGPGAHKGQSVISLDLYTCELDLTNL
ILFSLSISVSLFLMVMMTASHLYFWDVWYIYHFCKAKIKGYQRLISPDCCYDAFIVYDTK
DPAVTEWVLAELVAKLEDPREKHFNLCLEERDWLPGQPVLENLSQSIQLSKKTVFVMTDK
YAKTENFKIAFYLSHQRLMDEKVDVIILIFLEKPFQKSKFLQLRKRLCGSSVLEWPTNPQ
AHPYFWQCLKNALATDNHVAYSQVFKET
V
Sequence length 1049
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Neutrophil extracellular trap formation
Toll-like receptor signaling pathway
Measles
Influenza A
Coronavirus disease - COVID-19
  Trafficking and processing of endosomal TLR
Toll Like Receptor 7/8 (TLR7/8) Cascade
TRAF6 mediated IRF7 activation in TLR7/8 or 9 signaling
TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation
MyD88 dependent cascade initiated on endosome
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
20
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Immunodeficiency 74, COVID-19-related, X-linked Pathogenic rs2042915990, rs200553089 RCV001254821
RCV001254822
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Systemic lupus erythematosus Pathogenic rs2147245859 RCV002259554
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Systemic lupus erythematosus 17 Pathogenic rs2147245859, rs2147245261 RCV002251771
RCV002248405
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Actinic keratosis Actinic keratosis BEFREE 15606509, 24225049
★☆☆☆☆
Found in Text Mining only
Acute otitis media Otitis media BEFREE 28403045
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 23790156, 29968427
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 30546943
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 26238718
★☆☆☆☆
Found in Text Mining only
Adult type dermatomyositis Dermatomyositis BEFREE 20309865
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 18385087
★☆☆☆☆
Found in Text Mining only
Aicardi Syndrome Aicardi syndrome Pubtator 26888781 Associate
★☆☆☆☆
Found in Text Mining only
Allergic rhinitis (disorder) Allergic rhinitis BEFREE 22857391, 27667736, 28228119, 28681506, 30237869
★☆☆☆☆
Found in Text Mining only
Alopecia Alopecia BEFREE 31270708, 31571275
★☆☆☆☆
Found in Text Mining only