TLR8: Polycystic Ovarian Syndrome Database

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TLR8

Gene Information

Gene Ontology (GO)

Protein Information

Associated Diseases

Pathways

References

Gene Information

Gene Symbol

TLR8

Aliases

CD288

Entrez Gene ID

51311

Gene Name

Toll like receptor 8

Chromosomal Location

Xp22.2

HGNC ID

HGNC:15632

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 functional similarities. 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. The various TLRs exhibit different patterns of expression. This gene is predominantly expressed in lung and peripheral blood leukocytes, and lies in close proximity to another family member, TLR7, on chromosome X. [provided by RefSeq, Jul 2008]

RefSeq DNA

NG_012882.2

RefSeq mRNA

NM_138636.5, NM_016610.4

e!Ensembl

Gene	ENSG00000101916
Transcript	ENST00000218032, ENST00000311912
Protein	ENSP00000218032, ENSP00000312082

Gene Ontology (GO)

Show/Hide all(31 )

GO ID	Ontology	Function	Evidence	Reference
GO:0002224	Biological process	Toll-like receptor signaling pathway	IBA	21873635
GO:0006955	Biological process	Immune response	IBA	21873635
GO:0007249	Biological process	I-kappaB kinase/NF-kappaB signaling	IBA	21873635
GO:0007249	Biological process	I-kappaB kinase/NF-kappaB signaling	IDA	12032557
GO:0009615	Biological process	Response to virus	IDA	12032557
GO:0016064	Biological process	Immunoglobulin mediated immune response	TAS	16123302
GO:0032755	Biological process	Positive regulation of interleukin-6 production	IBA	21873635
GO:0034158	Biological process	Toll-like receptor 8 signaling pathway	IDA	24942581
GO:0045078	Biological process	Positive regulation of interferon-gamma biosynthetic process	IBA	21873635
GO:0045078	Biological process	Positive regulation of interferon-gamma biosynthetic process	IDA	16286015
GO:0045087	Biological process	Innate immune response	NAS	12032557
GO:0045089	Biological process	Positive regulation of innate immune response	IDA	16123302
GO:0045356	Biological process	Positive regulation of interferon-alpha biosynthetic process	IDA	16286015
GO:0045359	Biological process	Positive regulation of interferon-beta biosynthetic process	IBA	21873635
GO:0045359	Biological process	Positive regulation of interferon-beta biosynthetic process	IDA	16286015
GO:0045416	Biological process	Positive regulation of interleukin-8 biosynthetic process	IBA	21873635
GO:0045416	Biological process	Positive regulation of interleukin-8 biosynthetic process	IMP	16188996
GO:0050718	Biological process	Positive regulation of interleukin-1 beta secretion	IDA	24942581
GO:0051607	Biological process	Defense response to virus	IBA	21873635
GO:0051607	Biological process	Defense response to virus	IMP	16188996
GO:0071260	Biological process	Cellular response to mechanical stimulus	IEP	19593445
GO:2000778	Biological process	Positive regulation of interleukin-6 secretion	IDA	24942581
GO:2001183	Biological process	Negative regulation of interleukin-12 secretion	IDA	24942581
GO:0005886	Cellular component	Plasma membrane	IBA	21873635
GO:0009897	Cellular component	External side of plasma membrane	IDA	24942581
GO:0003677	Molecular function	DNA binding	IDA	16123302
GO:0003723	Molecular function	RNA binding	TAS	16123302
GO:0003725	Molecular function	Double-stranded RNA binding	IDA	16111635
GO:0003727	Molecular function	Single-stranded RNA binding	IDA	14976262, 24942581
GO:0008329	Molecular function	Signaling pattern recognition receptor activity	IBA	21873635
GO:0038023	Molecular function	Signaling receptor activity	NAS	12032557

Protein Information

Protein Name

Toll-like receptor 8

Function

Key component of innate and adaptive immunity. TLRs (Toll-like receptors) control host immune response against pathogens through recognition of molecular patterns specific to microorganisms. Acts via MYD88 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response

Refseq Proteins

NP_619542.1, NP_057694.2

UniProt

Q9NR97

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

Pfam

Pfam Accession	Pfam ID
PF13855	LRR_8
PF01582	TIR

Pathways
	KEGG	Reactome
	Toll-like receptor signaling pathway	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

Interactions

STRING	MINT	IntAct
ENSP00000312082		Q9NR97

View interactions

Associated Diseases

Show/Hide all(15 )

Disease group	Disease Name	References
Blood Disorders
Blood Disorders	Neutropenia	20465004
Cardiovascular Diseases
	Cardiomyopathy	30044791, 17719310
	Myocarditis	24529879, 16008579
	Hypertensive disease	22848646
	Cardiovascular Abnormalities	20506307
	Coronary heart disease	18985439
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
	Hemorrhages	30849525, 20674764
	MECP2 deficiency	28069966
	Cystic Fibrosis	24631641
	Genetic Diseases	24057516
	Biliary Atresia	21832949
Digestive System Diseases
	Periodontitis	30517775
	Hepatitis C	30031388, 24205871, 21739451, 17548497
	Liver Diseases	28752959, 28182609
	Irritable Bowel Syndrome	27445342, 21453321, 21102570
	Hepatitis B	26524358
	Hepatitis E	25454620
	Pancreatitis	25005350
	Colitis	22185629
	Hepatitis	19644151
	Intestinal Polyposis	18571243
Ear Or Mastoid Diseases
Ear Or Mastoid Diseases	Hearing Loss	25809471
Endocrine System Diseases
	PCOS	31184307
	Diabetes Insipidus	26485223
	Diabetes Mellitus	21805019
Immune System Diseases
	HIV Infections	31919342, 29263214, 28125903, 27928016, 26969150, 25191859, 24967632, 24939850, 24037211, 23826189, 23166493, 22393042, 18605904
	Rheumatoid Arthritis	31376255, 28495399, 26593270, 23420357, 23325096, 20194452, 19017992
	Autoimmune Diseases	31284084, 30100350, 28028829, 26680101, 25297876, 24813206, 24277153, 23085951, 20832340, 19006693, 18371115, 18241955
	Allergic rhinitis	28228119, 27544739, 26556310, 26418475, 24853609, 23265862, 22846753, 21548830, 18182379, 17332440
	Graft-vs-Host Disease	28159900, 24121213
	Lupus Nephritis	27635115
	Immunodeficiency	27392462, 27188997
	HIV Coinfection	26455634
	HPV infection	25877424, 25346143, 20473890
	Lupus Erythematosus	24525049, 22890025
	Juvenile arthritis	22302567
	Antiphospholipid Syndrome	21734241, 19457574
	HCV infections	21385948
	Agammaglobulinemia	17932028
	IRAK-4 deficiency	17157666
Musculoskeletal Diseases
	Arthritis	28935693
	Dental Caries	28377925
	Necrosis	16959331, 16537619, 16111635
Neoplasms
	Lung Cancer	30521597, 22344343, 20412752, 20237413, 17312119
	Breast Cancer	30261893, 24836676
	Carcinoma	29931076, 27810904, 27003259, 26928328, 20427260, 15606509
	Leukemia	29883656, 19249118
	Head and Neck Neoplasms	29061643, 23685782
	Ovarian Cancer	28453702, 27702821, 19184006
	Multiple Myeloma	27793666, 23593278
	Lymphoma	26294727, 20800061, 18021470
	Colorectal Cancer	25547486, 20728343
	Myeloid Leukemia	25283842, 19449004
	Multiple Sclerosis	23787171
	Renal Cancer	21418998
	Osteosarcoma	20828720
	Carotid Atherosclerosis	18837796
	Prostate cancer	18056169
Nervous System Diseases
	Systemic Lupus Erythematosus	31660791, 28500073, 26762473, 24919757, 24064706, 23468661, 22065095, 20159909, 18373699
	Transient Ischemic Attack	28017496, 21354862
	Cerebral Thrombosis	25657311
	Charcot-Marie-Tooth Disease	24372441
	Encephalomylitis	23516559, 22617845
Nutritional and Metabolic Diseases
	Metabolic Diseases	30476912
	Obesity	28544689, 27677832, 25786686
	Aicardi-Goutieres syndrome	27334229, 15588425
Psychiatric/Brain disorders
	Schizophrenia	30616121
	Cognition Disorders	29196629
	Mental Depression	26415953
	Psychosis	22832610
Reproductive disorders
	Endometriosis	25416515
	Preeclampsia	22440523
Respiratory Tract Diseases
	Pulmonary Tuberculosis	30529560, 30424735, 27156628, 26043172, 25928077, 25572425, 21846947, 20652908, 18927625
	Asthma	28592890, 27677226
	Respiratory Tract Infections	28403045, 23861935, 23497334
	Bronchiolitis	27498757, 26741133
	Pulmonary Fibrosis	27101936
	Pneumonia	25550856
	Influenza	23552014
	Lung Diseases	19527497, 17213320, 16627825
	Respiratory Distress Syndrome	16622022
Skin and Connective Tissue Diseases
	Psoriasis	30552699, 29971953, 24254490, 21377044, 19703986
	Scleroderma	30234721, 30157947, 29321259, 28639412, 26159672, 23223421
	Dermatomyositis	23013528

References

Show/Hide all(1)

PubMed ID	Associated gene/s	Associated condition	Genetic Mutation	Diagnostic Criteria	Association with PCOS	Ethnicity	Conclusion
31184307		PCOS, Inflammation		Rotterdam Criteria	Direct	38 PCOS patients and 40 controls (7 PCOS patients and 3 controls were downloaded from GEO dataset 34526)	In conclusion, our data collectively provide a comprehensive bioinformatics analysis of DEGs in PCOS. Our results confirm that the inflammation and immune play important roles in the occurrence and development of PCOS. Meanwhile, TLR signaling pathway mediating inflammation and immune might be involved in the pathogenesis of PCOS, and TLR2, TLR8, CD14 may be core target genes.

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