Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	51311
Gene name	Toll like receptor 8
Gene symbol	TLR8
Synonyms (NCBI Gene)	CD288IMD98TLR-8hTLR8
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

Show/Hide all (78)

miRTarBase ID	miRNA	Experiments	Reference
MIRT650804	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT650803	hsa-miR-891b	HITS-CLIP	23824327
MIRT650804	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT650803	hsa-miR-891b	HITS-CLIP	23824327
MIRT735683	hsa-miR-340-3p	Immunofluorescence	31940779
MIRT735684	hsa-miR-132-5p	Immunofluorescence	31940779
MIRT736440	hsa-miR-491-3p	qRT-PCRFlow cytometry	33679688
MIRT650804	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT650803	hsa-miR-891b	HITS-CLIP	23824327
MIRT650804	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT650803	hsa-miR-891b	HITS-CLIP	23824327
MIRT1427040	hsa-miR-125a-5p	CLIP-seq
MIRT1427041	hsa-miR-125b	CLIP-seq
MIRT1427042	hsa-miR-1301	CLIP-seq
MIRT1427043	hsa-miR-3613-3p	CLIP-seq
MIRT1427044	hsa-miR-3620	CLIP-seq
MIRT1427045	hsa-miR-3690	CLIP-seq
MIRT1427046	hsa-miR-371b-5p	CLIP-seq
MIRT1427047	hsa-miR-378	CLIP-seq
MIRT1427048	hsa-miR-378b	CLIP-seq
MIRT1427049	hsa-miR-378c	CLIP-seq
MIRT1427050	hsa-miR-378d	CLIP-seq
MIRT1427051	hsa-miR-378e	CLIP-seq
MIRT1427052	hsa-miR-378f	CLIP-seq
MIRT1427053	hsa-miR-378h	CLIP-seq
MIRT1427054	hsa-miR-378i	CLIP-seq
MIRT1427055	hsa-miR-3921	CLIP-seq
MIRT1427056	hsa-miR-410	CLIP-seq
MIRT1427057	hsa-miR-422a	CLIP-seq
MIRT1427058	hsa-miR-4251	CLIP-seq
MIRT1427059	hsa-miR-4319	CLIP-seq
MIRT1427060	hsa-miR-4329	CLIP-seq
MIRT1427061	hsa-miR-4459	CLIP-seq
MIRT1427062	hsa-miR-4653-5p	CLIP-seq
MIRT1427063	hsa-miR-4725-5p	CLIP-seq
MIRT1427064	hsa-miR-504	CLIP-seq
MIRT1427065	hsa-miR-5047	CLIP-seq
MIRT1427066	hsa-miR-548a-3p	CLIP-seq
MIRT1427067	hsa-miR-548ae	CLIP-seq
MIRT1427068	hsa-miR-548aj	CLIP-seq
MIRT1427069	hsa-miR-548am	CLIP-seq
MIRT1427070	hsa-miR-548e	CLIP-seq
MIRT1427071	hsa-miR-548f	CLIP-seq
MIRT1427072	hsa-miR-548g	CLIP-seq
MIRT1427073	hsa-miR-548x	CLIP-seq
MIRT1427074	hsa-miR-570	CLIP-seq
MIRT1427075	hsa-miR-665	CLIP-seq
MIRT2127948	hsa-miR-1972	CLIP-seq
MIRT2127949	hsa-miR-4274	CLIP-seq
MIRT2127950	hsa-miR-4436a	CLIP-seq
MIRT2127951	hsa-miR-4690-5p	CLIP-seq
MIRT2349577	hsa-miR-1269	CLIP-seq
MIRT2349578	hsa-miR-1269b	CLIP-seq
MIRT2349579	hsa-miR-1288	CLIP-seq
MIRT2349580	hsa-miR-323-5p	CLIP-seq
MIRT1427045	hsa-miR-3690	CLIP-seq
MIRT1427047	hsa-miR-378	CLIP-seq
MIRT1427048	hsa-miR-378b	CLIP-seq
MIRT1427049	hsa-miR-378c	CLIP-seq
MIRT1427050	hsa-miR-378d	CLIP-seq
MIRT1427051	hsa-miR-378e	CLIP-seq
MIRT1427052	hsa-miR-378f	CLIP-seq
MIRT1427053	hsa-miR-378h	CLIP-seq
MIRT1427054	hsa-miR-378i	CLIP-seq
MIRT1427057	hsa-miR-422a	CLIP-seq
MIRT2349581	hsa-miR-4292	CLIP-seq
MIRT2349582	hsa-miR-4308	CLIP-seq
MIRT2349583	hsa-miR-4446-5p	CLIP-seq
MIRT2349584	hsa-miR-4502	CLIP-seq
MIRT2349585	hsa-miR-4515	CLIP-seq
MIRT2349586	hsa-miR-4740-5p	CLIP-seq
MIRT2349587	hsa-miR-4755-5p	CLIP-seq
MIRT2349588	hsa-miR-621	CLIP-seq
MIRT2349589	hsa-miR-670	CLIP-seq
MIRT2643097	hsa-miR-1298	CLIP-seq
MIRT2643098	hsa-miR-3658	CLIP-seq
MIRT2643099	hsa-miR-579	CLIP-seq
MIRT2643100	hsa-miR-664	CLIP-seq

Show/Hide all (52)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0002224	Process	Toll-like receptor signaling pathway	IBA
GO:0002376	Process	Immune system process	IEA
GO:0003677	Function	DNA binding	IDA	16123302
GO:0003723	Function	RNA binding	TAS	16123302
GO:0003725	Function	Double-stranded RNA binding	IDA	16111635, 33718825
GO:0003727	Function	Single-stranded RNA binding	IDA	14976262, 24942581
GO:0005515	Function	Protein binding	IPI	22164301, 33961781
GO:0005768	Component	Endosome	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0006954	Process	Inflammatory response	IEA
GO:0006955	Process	Immune response	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007249	Process	Canonical NF-kappaB signal transduction	IBA
GO:0009615	Process	Response to virus	IDA	12032557
GO:0009897	Component	External side of plasma membrane	IDA	24942581
GO:0010008	Component	Endosome membrane	IEA
GO:0010008	Component	Endosome membrane	TAS
GO:0016020	Component	Membrane	IEA
GO:0016064	Process	Immunoglobulin mediated immune response	TAS	16123302
GO:0032695	Process	Negative regulation of interleukin-12 production	IDA	24942581
GO:0032727	Process	Positive regulation of interferon-alpha production	IDA	16286015
GO:0032727	Process	Positive regulation of interferon-alpha production	IEA
GO:0032728	Process	Positive regulation of interferon-beta production	IDA	16286015
GO:0032728	Process	Positive regulation of interferon-beta production	IEA
GO:0032729	Process	Positive regulation of type II interferon production	IDA	16286015
GO:0032729	Process	Positive regulation of type II interferon production	IEA
GO:0032731	Process	Positive regulation of interleukin-1 beta production	IDA	24942581, 33718825
GO:0032755	Process	Positive regulation of interleukin-6 production	IBA
GO:0032755	Process	Positive regulation of interleukin-6 production	IDA	24942581
GO:0032757	Process	Positive regulation of interleukin-8 production	IEA
GO:0032757	Process	Positive regulation of interleukin-8 production	IMP	16188996
GO:0034158	Process	Toll-like receptor 8 signaling pathway	IDA	12032557, 24942581, 33718825
GO:0036020	Component	Endolysosome membrane	IEA
GO:0036020	Component	Endolysosome membrane	TAS
GO:0038023	Function	Signaling receptor activity	NAS	12032557
GO:0038187	Function	Pattern recognition receptor activity	IBA
GO:0042802	Function	Identical protein binding	IPI	23520111, 25599397
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IDA	12032557
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IEA
GO:0045087	Process	Innate immune response	IEA
GO:0045087	Process	Innate immune response	NAS	12032557
GO:0045089	Process	Positive regulation of innate immune response	IDA	16123302
GO:0051607	Process	Defense response to virus	IBA
GO:0051607	Process	Defense response to virus	IDA	33718825
GO:0051607	Process	Defense response to virus	IEP	32634389
GO:0051607	Process	Defense response to virus	IMP	16188996
GO:0071260	Process	Cellular response to mechanical stimulus	IEP	19593445
GO:0098542	Process	Defense response to other organism	IEA
GO:0140894	Process	Endolysosomal toll-like receptor signaling pathway	IEA

MIM	HGNC	e!Ensembl
300366	15632	ENSG00000101916

Q9NR97

Protein name

Toll-like receptor 8 (CD antigen CD288)

Protein function

Endosomal receptor that plays a key role in innate and adaptive immunity (PubMed:25297876, PubMed:32433612). Controls host immune response against pathogens through recognition of RNA degradation products specific to microorganisms that are init

PDB

3W3G , 3W3J , 3W3K , 3W3L , 3W3M , 3W3N , 3WN4 , 4QBZ , 4QC0 , 4R07 , 4R08 , 4R09 , 4R0A , 4R6A , 5AWA , 5AWB , 5AWC , 5AWD , 5AZ5 , 5HDH , 5WYX , 5WYZ , 5Z14 , 5Z15 , 6KYA , 6TY5 , 6V9U , 6WML , 6ZJZ , 7CRF , 7R52 , 7R53 , 7R54 , 7RC9 , 7YTX , 8PFI , 9MHW , 9MHX , 9MHY

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00560	LRR_1	65 → 86	Leucine Rich Repeat	Repeat
PF13855	LRR_8	276 → 323	Leucine rich repeat	Repeat
PF13855	LRR_8	639 → 700	Leucine rich repeat	Repeat
PF13855	LRR_8	712 → 774	Leucine rich repeat	Repeat
PF01582	TIR	879 → 1039	TIR domain	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in myeloid dendritic cells, monocytes, and monocyte-derived dendritic cells. {ECO:0000269|PubMed:33718825}.

Sequence

MENMFLQSSMLTCIFLLISGSCELCAEENFSRSYPCDEKKQNDSVIAECSNRRLQEVPQT
VGKYVTELDLSDNFITHITNESFQGLQNLTKINLNHNPNVQHQNGNPGIQSNGLNITDGA
FLNLKNLRELLLEDNQLPQIPSGLPESLTELSLIQNNIYNITKEGISRLINLKNLYLAWN
CYFNKVCEKTNIEDGVFETLTNLELLSLSFNSLSHVPPKLPSSLRKLFLSNTQIKYISEE
DFKGLINLTLLDLSGNCPRCFNAPFPCVPCDGGASINIDRFAFQNLTQLRYLNLSSTSLR
KINAAWFKNMPHLKVLDLEFNYLVGEIASGAFLTMLPRLEILDLSFNYIKGSYPQHINIS
RNFSKLLSLRALHLRGYVFQELREDDFQPLMQLPNLSTINLGINFIKQIDFKLFQNFSNL
EIIYLSENRISPLVKDTRQSYANSSSFQRHIRKRRSTDFEFDPHSNFYHFTRPLIKPQCA
AYGKALDLSLNSIFFIGPNQFENLPDIACLNLSANSNAQVLSGTEFSAIPHVKYLDLTNN
RLDFDNASALTELSDLEVLDLSYNSHYFRIAGVTHHLEFIQNFTNLKVLNLSHNNIYTLT
DKYNLESKSLVELVFSGNRLDILWNDDDNRYISIFKGLKNLTRLDLSLNRLKHIPNEAFL
NLPASLTELHINDNMLKFFNWTLLQQFPRLELLDLRGNKLLFLTDSLSDFTSSLRTLLLS
HNRISHLPSGFLSEVSSLKHLDLSSNLLKTINKSALETKTTTKLSMLELHGNPFECTCDI
GDFRRWMDEHLNVKIPRLVDVICASPGDQRGKSIVSLELTTCVSDVTAVILFFFTFFITT
MVMLAALAHHLFYWDVWFIYNVCLAKVKGYRSLSTSQTFYDAYISYDTKDASVTDWVINE
LRYHLEESRDKNVLLCLEERDWDPGLAIIDNLMQSINQSKKTVFVLTKKYAKSWNFKTAF
YLALQRLMDENMDVIIFILLEPVLQHSQYLRLRQRICKSSILQWPDNPKAEGLFWQTLRN
VVLTENDSRYNNMYVDSIKQY

Sequence length

1041

Interactions

View interactions

	KEGG		Reactome
	Neutrophil extracellular trap formation Toll-like receptor signaling pathway 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

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autoimmune hemolytic anemia	Pathogenic	rs1385657144	RCV001824551
Immunodeficiency 98 with autoinflammation, X-linked	Pathogenic	rs1385657144, rs2147259120	RCV002246410 RCV002246411 RCV002251772
INFLTR8	Pathogenic	rs1385657144, rs2147259120	RCV001526671 RCV001526672
Systemic autoinflammation	Pathogenic	rs1385657144	RCV001824551

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Germ cell tumor of testis	Benign	rs5744080	RCV005927756
Osteoarthritis	association	rs1569113445, rs1569113447	RCV000722145 RCV000722146
Thyroid cancer, nonmedullary, 1	Benign	rs5744082	RCV005908665
TLR8-related condition	Uncertain significance	rs2147258995, rs2518461416	RCV004758808 RCV004758955

Show/Hide Text Mining Associations (134)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Achondroplasia and Swiss type agammaglobulinemia	Associate	17932028
Adenocarcinoma of Lung	Associate	30521597, 32087603, 37746997
Alzheimer Disease	Associate	17652175
Anemia Hemolytic Autoimmune	Associate	34981838
Appendicitis	Associate	24336024
Arthritis	Associate	34981838, 36262248
Arthritis Juvenile	Associate	28935693
Arthritis Rheumatoid	Associate	16052591, 22730373, 31376255, 36262248
Arthritis Rheumatoid	Stimulate	31501466, 33377396
Asthma	Associate	26725554, 29486764, 32513781
Atherosclerosis	Associate	32787365
Atrial Fibrillation	Associate	35919038
Autism Spectrum Disorder	Associate	22226452
Autoimmune Diseases	Associate	23386618, 23787171, 26790609, 37723501
Bipolar Disorder	Associate	22832610
Bone Marrow Failure Disorders	Associate	33512449
Brachydactyly Type D	Associate	28504607
Breast Neoplasms	Associate	30261893, 31789409, 33679700, 37914385
Bruton type agammaglobulinemia	Associate	17090647
Cardiomyopathies	Associate	30044791
Chromosome Aberrations	Associate	18942751
Cognitive Dysfunction	Associate	29196629
Colitis Ulcerative	Associate	18942751, 22185629, 37055495
Colorectal Neoplasms	Associate	25547486
Common Variable Immunodeficiency	Associate	19592080, 27188997
Common Variable Immunodeficiency	Stimulate	37896869
Coronary Artery Disease	Associate	39614436
Coronavirus Infections	Associate	32361001
COVID 19	Associate	34064104, 35538443, 36497044
COVID 19	Inhibit	34824360
COVID 19	Stimulate	36526691
Coxa Magna	Associate	36627660
Crohn Disease	Associate	18942751, 19637197
Cytokine Release Syndrome	Associate	19449004
Dermatitis Contact	Associate	28935206
Diabetes Mellitus	Associate	37773841
Diabetes Mellitus Type 2	Associate	36552771
Digestive System Diseases	Associate	30044791
Disease	Associate	33446885
Enteritis	Associate	34981838
Fever	Associate	34981838
Fibrosis	Associate	23425350
Gastroschisis	Associate	32163230
Gingivitis	Associate	32130362
Glomerulonephritis IGA	Associate	31489594
Head and Neck Neoplasms	Associate	29061643
Heart Block	Associate	26432597
Heart Diseases	Associate	30044791
Helicobacter Infections	Associate	36317079
Hepatitis C	Associate	25126563, 26023919
Hepatitis C Chronic	Associate	23425350
Hereditary Autoinflammatory Diseases	Associate	34981838
Herpes Simplex	Associate	19437550
HIV Infections	Associate	20693428, 22393042, 26969150, 27168019, 30147152, 33350746
HTLV I Infections	Associate	24939850
Huntington Disease	Associate	28245863
Hypertension	Associate	25657311
Immune System Diseases	Associate	33512449, 34981838
Immunologic Deficiency Syndromes	Associate	33512449
Infections	Inhibit	19437550, 20946625
Infections	Associate	25252956, 30424735, 31662487
Inflammation	Associate	20946625, 21952587, 22185629, 23386618, 26308008, 31430261, 32595650, 32787365, 34981838, 37433968, 39614436
Inflammation	Stimulate	25547486, 27729782, 36969199, 37256770
Inflammatory Bowel Diseases	Associate	18942751, 38115636
Influenza Human	Stimulate	23552014
Kidney Diseases	Associate	26445497
Kidney Failure Chronic	Associate	26445497
Klinefelter Syndrome	Associate	37723501
Langerhans Cell Sarcoma	Associate	23221735
Laryngeal Neoplasms	Associate	21478107
Latent Tuberculosis	Associate	30424735
Leukemia	Associate	19449004, 20859626
Leukemia Lymphocytic Chronic B Cell	Associate	25416804
Leukemia Myeloid	Associate	24307172
Leukemia Myeloid Acute	Associate	19449004
Lichenoid Eruptions	Associate	28715461
Liver Failure Acute	Associate	27284092
Lung Neoplasms	Associate	20237413, 34596365
Lupus Erythematosus Cutaneous	Associate	38004071
Lupus Erythematosus Systemic	Associate	19440200, 22513098, 23468661, 24445780, 25485543, 28039018, 33336388, 36180106, 39776899
Lupus Erythematosus Systemic	Stimulate	19843090
Mouth Diseases	Associate	30121951
Mucocutaneous Lymph Node Syndrome	Associate	28061462, 34193364, 36536067
Multiple Myeloma	Associate	23593278
Multiple Sclerosis	Associate	19664140
Multiple Sclerosis	Inhibit	23787171
Neoplasms	Associate	20237413, 24782650, 25825448, 29345064, 31430261, 34315922, 35269457, 35937402, 36613950
Nephrosis congenital	Associate	26123900
Neuroblastoma	Associate	25972604
Neutropenia	Associate	33512449
Obesity	Associate	27677832
Obesity	Stimulate	30476912
Optic Neuritis	Associate	36969199
Osteoarthritis	Associate	23255072, 36262248
Ovarian Neoplasms	Associate	33414414, 37317670
Papillomavirus Infections	Associate	39273663
Parkinson Disease	Associate	35802825
Pericardial Effusion	Associate	24445780
Periodontitis	Associate	32130362
Polycystic Ovary Syndrome	Stimulate	34516355
Polysaccharide Storage of Unusual	Associate	22226452
Prostatitis	Associate	36613950
Proteinuria	Associate	26123900, 31489594
Psoriasis	Associate	28935206, 38115636
Pulpitis	Associate	33046027
Renal cell carcinoma 1	Associate	26202481
Renal Insufficiency Chronic	Associate	35705063
Respiratory Distress Syndrome	Stimulate	31385713
Respiratory Syncytial Virus Infections	Associate	19386802
Respiratory Syncytial Virus Infections	Inhibit	20946625
Respiratory Tract Infections	Associate	29486764
Rhinitis Allergic	Associate	22857391, 28228119
RNA Virus Infections	Associate	31662487
Sarcoidosis Pulmonary	Stimulate	39364409
Schizophrenia	Associate	38102721
Scleroderma Systemic	Associate	23223421, 28245863, 28639412
Sepsis	Associate	25476907
Sjogren's Syndrome	Associate	25113744
Sjogren's Syndrome	Stimulate	27943374
Soft Tissue Injuries	Associate	26432597, 27677832
Splenomegaly	Associate	27188997
Squamous Cell Carcinoma of Head and Neck	Associate	32228580
Synovitis	Associate	33377396
Takayasu Arteritis	Associate	35126357
Tuberculosis	Associate	30424735
Tuberculosis Meningeal	Associate	21846947
Tuberculosis Pulmonary	Associate	18927625, 21846947, 30424735, 39260130
Turner Syndrome	Associate	36758851
Uterine Cervical Neoplasms	Associate	23221735
Uterine Cervical Neoplasms	Stimulate	24782650
Uterine Cervicitis	Associate	39273663
Vasculitis Central Nervous System	Associate	34981838
Virus Diseases	Associate	17932028, 23824215, 26790609, 30453684, 31430261
Weight Loss	Inhibit	30476912

TLR8 (toll like receptor 8)