Gene Gene information from NCBI Gene database.
Entrez ID 7099
Gene name Toll like receptor 4
Gene symbol TLR4
Synonyms (NCBI Gene)
ARMD10CD284TLR-4TOLL
Chromosome 9
Chromosome location 9q33.1
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.
210
miRTarBase ID miRNA Experiments Reference
MIRT003050 hsa-let-7i-5p Luciferase reporter assayqRT-PCRWestern blot 17660297
MIRT003050 hsa-let-7i-5p Luciferase reporter assayqRT-PCRWestern blot 17660297
MIRT006530 hsa-miR-146a-5p ELISALuciferase reporter assayMicroarrayqRT-PCRWestern blot 21329689
MIRT006530 hsa-miR-146a-5p ELISALuciferase reporter assayMicroarrayqRT-PCRWestern blot 21329689
MIRT006530 hsa-miR-146a-5p ELISALuciferase reporter assayMicroarrayqRT-PCRWestern blot 21329689
Transcription factors Transcription factors information provided by TRRUST V2 database.
6
Transcription factor Regulation Reference
IRF3 Unknown 22208359
IRF8 Unknown 10734131
SPI1 Activation 16785240;20956019
SPI1 Unknown 10734131
STAT6 Repression 16433852
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
211
GO ID Ontology Definition Evidence Reference
GO:0001530 Function Lipopolysaccharide binding IBA
GO:0001530 Function Lipopolysaccharide binding IMP 16514062
GO:0001530 Function Lipopolysaccharide binding NAS 10835634
GO:0001540 Function Amyloid-beta binding IC 20037584
GO:0001726 Component Ruffle IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603030 11850 ENSG00000136869
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O00206
Protein name Toll-like receptor 4 (hToll) (CD antigen CD284)
Protein function Transmembrane receptor that functions as a pattern recognition receptor recognizing pathogen- and damage-associated molecular patterns (PAMPs and DAMPs) to induce innate immune responses via downstream signaling pathways (PubMed:10835634, PubMed
PDB 2Z62 , 2Z63 , 2Z65 , 2Z66 , 3FXI , 3UL7 , 3UL8 , 3UL9 , 3ULA , 4G8A , 5NAM , 5NAO , 8WO1 , 8WTA
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13855 LRR_8 55 114 Leucine rich repeat Repeat
PF13855 LRR_8 78 138 Leucine rich repeat Repeat
PF13855 LRR_8 126 187 Leucine rich repeat Repeat
PF13855 LRR_8 150 207 Leucine rich repeat Repeat
PF13855 LRR_8 447 508 Leucine rich repeat Repeat
PF13855 LRR_8 485 532 Leucine rich repeat Repeat
PF13855 LRR_8 496 556 Leucine rich repeat Repeat
PF01582 TIR 674 839 TIR domain Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in placenta, spleen and peripheral blood leukocytes (PubMed:9237759, PubMed:9435236). Detected in monocytes, macrophages, dendritic cells and several types of T-cells (PubMed:27022195, PubMed:9237759). Expressed in pan
Sequence
MMSASRLAGTLIPAMAFLSCVRPESWEPCVEVVPNITYQCMELNFYKIPDNLPFSTKNLD
LSFNPLRHLGSYSFFSF
PELQVLDLSRCEIQTIEDGAYQSLSHLSTLILTGNPIQSLALG
AFSGLSSLQKLVAVETNLASLENFPIGHLKTLKELNVAHNLIQSFKLPEYFSNLTNLEHL
DLSSNKI
QSIYCTDLRVLHQMPLLNLS
LDLSLNPMNFIQPGAFKEIRLHKLTLRNNFDSL
NVMKTCIQGLAGLEVHRLVLGEFRNEGNLEKFDKSALEGLCNLTIEEFRLAYLDYYLDDI
IDLFNCLTNVSSFSLVSVTIERVKDFSYNFGWQHLELVNCKFGQFPTLKLKSLKRLTFTS
NKGGNAFSEVDLPSLEFLDLSRNGLSFKGCCSQSDFGTTSLKYLDLSFNGVITMSSNFLG
LEQLEHLDFQHSNLKQMSEFSVFLSLRNLIYLDISHTHTRVAFNGIFNGLSSLEVLKMAG
NSFQ
ENFLPDIFTELRNLTFLDLSQCQLEQLSPTAFNSLSSLQVLNMSHNNFFSLDTFPY
KCLNSLQVLDYSLNHI
MTSKKQELQHFPSSLAFLNLTQNDFACTCEHQSFLQWIKDQRQL
LVEVERMECATPSDKQGMPVLSLNITCQMNKTIIGVSVLSVLVVSVVAVLVYKFYFHLML
LAGCIKYGRGENIYDAFVIYSSQDEDWVRNELVKNLEEGVPPFQLCLHYRDFIPGVAIAA
NIIHEGFHKSRKVIVVVSQHFIQSRWCIFEYEIAQTWQFLSSRAGIIFIVLQKVEKTLLR
QQVELYRLLSRNTYLEWEDSVLGRHIFWRRLRKALLDGKSWNPEGTVGTGCNWQEATSI
Sequence length 839
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
93
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)
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
ALZHEIMERS DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMBLYOPIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANGINA, STABLE CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS GWAS catalog
★★☆☆☆
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
AA amyloidosis AA amyloidosis BEFREE 20714796
★☆☆☆☆
Found in Text Mining only
Acne Acne BEFREE 22085193
★☆☆☆☆
Found in Text Mining only
Acne Acne HPO_DG
★☆☆☆☆
Found in Text Mining only
Acne Vulgaris Acne BEFREE 22085193
★☆☆☆☆
Found in Text Mining only
Actinic keratosis Actinic keratosis BEFREE 31081044
★☆☆☆☆
Found in Text Mining only
Acute Cerebrovascular Accidents Stroke BEFREE 29910175
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome BEFREE 14563652, 15883205, 18373609, 25179298
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome LHGDN 14563652
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome CTD_human_DG 20981132
★☆☆☆☆
Found in Text Mining only
Acute intermittent porphyria Intermittent Porphyria BEFREE 19500628, 28921377
★☆☆☆☆
Found in Text Mining only