TLR6 toll like receptor 6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TLR6provided by HGNC
Official Full Name: toll like receptor 6provided by HGNC
Primary source: HGNC:HGNC:16711
See related: Ensembl:ENSG00000174130 MIM:605403; AllianceGenome:HGNC:16711
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CD286
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 receptor functionally interacts with toll-like receptor 2 to mediate cellular response to bacterial lipoproteins. A Ser249Pro polymorphism in the extracellular domain of the encoded protein may be associated with an increased of asthma is some populations.[provided by RefSeq, Jan 2011]
Expression: Broad expression in appendix (RPKM 4.9), spleen (RPKM 4.1) and 20 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4p14

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (38822897..38868390, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (38793030..38827904, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (38824518..38859376, complement)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

High TLR6 Expression Status Predicts a More Favorable Prognosis after Esophagectomy for Locally Advanced Thoracic Esophageal Squamous Cell Carcinoma.
Title: High TLR6 Expression Status Predicts a More Favorable Prognosis after Esophagectomy for Locally Advanced Thoracic Esophageal Squamous Cell Carcinoma.
Synergistic effect of genetic polymorphisms in TLR6 and TLR10 genes on the risk of pulmonary tuberculosis in a Moldavian population.
Title: Synergistic effect of genetic polymorphisms in TLR6 and TLR10 genes on the risk of pulmonary tuberculosis in a Moldavian population.
Variants of Toll-like receptor 6 associated with tuberculosis susceptibility in the Chinese Tibetan population.
Title: Variants of Toll-like receptor 6 associated with tuberculosis susceptibility in the Chinese Tibetan population.
Integrated genomics analysis highlights important SNPs and genes implicated in moderate-to-severe asthma based on GWAS and eQTL datasets.
Title: Integrated genomics analysis highlights important SNPs and genes implicated in moderate-to-severe asthma based on GWAS and eQTL datasets.
Sequence and Structural Characterization of Toll-Like Receptor 6 from Human and Related Species.
Title: Sequence and Structural Characterization of Toll-Like Receptor 6 from Human and Related Species.
association of rs5743810 with BCG osteitis not found
Title: Toll-like receptor 1, 2 and 6 polymorphisms: no association with 11 serum cytokine concentrations.
TLR2 and TLR6 are upregulated in ischemic muscle and play a role in ischemia-induced muscle damage.
Title: Toll-like receptors 2 and 6 mediate apoptosis and inflammation in ischemic skeletal myotubes.
TLR6 single nucleotide polymorphisms rs3796508 (Val327Met) and rs5743810 (Ser249Pro) and breast cancer susceptibility in Saudi Arabian women were evaluated. The findings suggest a strong association between rs5743810 and protection against Breast Cancer risk in Saudi Arabian women. Importantly, the rs5743810 Pro allele could be a potential Breast Cancer diagnostic biomarker in this ethnic population.
Title: Novel sequence variants in the TLR6 gene associated with advanced breast cancer risk in the Saudi Arabian population.
Live Faecalibacterium prausnitzii, an abundant obligate anaerobe of the colonic microbiota, induced higher TLR2 and TLR2/6 activation than the dead bacterium.
Title: Live Faecalibacterium prausnitzii induces greater TLR2 and TLR2/6 activation than the dead bacterium in an apical anaerobic co-culture system.
mean proportions of European ancestry differed significantly between the genotypes of the TLR1 (I602S) gene in a population of the Atlantic Forest, Sao Paulo, Brazil
Title: Genetic ancestry effects on the distribution of toll-like receptors (TLRs) gene polymorphisms in a population of the Atlantic Forest, São Paulo, Brazil.

Submit: New GeneRIF Correction See all GeneRIFs (104)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of genetic loci associated with Helicobacter pylori serologic status. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 gp120 upregulates the expression of toll-like receptor 6 (TLR6) in human B cells	PubMed
Envelope transmembrane glycoprotein gp41	env	Exposure of TLR2 transgene cell lines (TZM-bl-2, HEK293-TLR2/1, HEK293-TLR2/6) to HIV-1 gp41 increases IL-8 production	PubMed
	env	The HIV-1 gp41 transmembrane domain (TMD) inhibits the interaction between the TMDs of TLR2 and TLR6 in vitro	PubMed
capsid	gag	Exposure of the TLR2 transgene cell line, HEK293-TLR2/6, to HIV-1 CA (p24) increases IL-8 production BUT NOT in the TLR2 transgene cell lines, TZM-bl-2 and HEK293-TLR2/1	PubMed
matrix	gag	Exposure of TLR2 transgene cell lines (TZM-bl-2, HEK293-TLR2/1, HEK293-TLR2/6) to HIV-1 MA (p17) increases the production of IL-8	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:482570

PMC128073P7 (e-PCR)
- UniSTS:270569

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables NAD+ nucleotidase, cyclic ADP-ribose generating	IEA Inferred from Electronic Annotation more info
enables Toll-like receptor 2 binding	IBA Inferred from Biological aspect of Ancestor more info
enables Toll-like receptor 2 binding	IPI Inferred from Physical Interaction more info	PubMed
enables amyloid-beta binding	IC Inferred by Curator more info	PubMed
enables identical protein binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables lipopeptide binding	IBA Inferred from Biological aspect of Ancestor more info
enables lipopeptide binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables signaling receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane signaling receptor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in MyD88-dependent toll-like receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in MyD88-dependent toll-like receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in TRIF-dependent toll-like receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in activation of NF-kappaB-inducing kinase activity	NAS Non-traceable Author Statement more info	PubMed
involved_in cellular response to amyloid-beta	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to amyloid-beta	IGI Inferred from Genetic Interaction more info	PubMed
involved_in cellular response to diacyl bacterial lipopeptide	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cellular response to diacyl bacterial lipopeptide	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to diacyl bacterial lipopeptide	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to oxidised low-density lipoprotein particle stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to oxidised low-density lipoprotein particle stimulus	ISS Inferred from Sequence or Structural Similarity more info
involved_in defense response to bacterium	TAS Traceable Author Statement more info	PubMed
acts_upstream_of_or_within detection of diacyl bacterial lipopeptide	IDA Inferred from Direct Assay more info	PubMed
involved_in immune response	TAS Traceable Author Statement more info	PubMed
involved_in inflammatory response	IBA Inferred from Biological aspect of Ancestor more info
involved_in innate immune response	NAS Non-traceable Author Statement more info	PubMed
involved_in microglial cell activation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of interleukin-8 production	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of toll-like receptor 2 signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in nitric oxide metabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within positive regulation of JUN kinase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of NLRP3 inflammasome complex assembly	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within positive regulation of canonical NF-kappaB signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of canonical NF-kappaB signal transduction	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of cytokine production involved in inflammatory response	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of extrinsic apoptotic signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of interleukin-1 beta production	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of interleukin-6 production	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of macrophage activation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of nitric oxide biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of reactive oxygen species biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in toll-like receptor TLR6:TLR2 signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in toll-like receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
part_of Toll-like receptor 2-Toll-like receptor 6 protein complex	IBA Inferred from Biological aspect of Ancestor more info
part_of Toll-like receptor 2-Toll-like receptor 6 protein complex	IPI Inferred from Physical Interaction more info	PubMed
located_in membrane raft	IDA Inferred from Direct Assay more info	PubMed
located_in phagocytic vesicle membrane	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	NAS Non-traceable Author Statement more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
part_of receptor complex	IPI Inferred from Physical Interaction more info	PubMed

General protein information

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Preferred Names: toll-like receptor 6

NP_001381482.1

EC 3.2.2.6

NP_006059.2

EC 3.2.2.6

XP_005262694.1

EC 3.2.2.6

XP_011511915.1

EC 3.2.2.6

XP_024309641.1

EC 3.2.2.6

XP_047305452.1

EC 3.2.2.6

XP_047305453.1

EC 3.2.2.6

XP_047305454.1

EC 3.2.2.6

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_028087.2 RefSeqGene

Range

16573..50493

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001394553.1 → NP_001381482.1 toll-like receptor 6 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.

Source sequence(s)

AC108044

Consensus CDS

CCDS3446.1

UniProtKB/Swiss-Prot

B3Y640, B6CH35, B6RFS4, B6RFS5, Q2NKL3, Q9Y2C9

UniProtKB/TrEMBL

B6CH37, D1CS92, D1CS97, D1CS98

Conserved Domains (7) summary

smart00082
Location:529 → 582

LRRCT; Leucine rich repeat C-terminal domain

smart00255
Location:641 → 780

TIR; Toll - interleukin 1 - resistance

PLN00113
Location:353 → 565

PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional

COG4886
Location:43 → 304

LRR; Leucine-rich repeat (LRR) protein [Transcription]

sd00031
Location:54 → 77

LRR_1; leucine-rich repeat [structural motif]

sd00033
Location:36 → 53

LRR_RI; leucine-rich repeat [structural motif]

pfam13855
Location:76 → 133

LRR_8; Leucine rich repeat
NM_006068.5 → NP_006059.2 toll-like receptor 6 precursor

See identical proteins and their annotated locations for NP_006059.2

Status: REVIEWED

Source sequence(s)

AC108044

Consensus CDS

CCDS3446.1

UniProtKB/Swiss-Prot

B3Y640, B6CH35, B6RFS4, B6RFS5, Q2NKL3, Q9Y2C9

UniProtKB/TrEMBL

B6CH37, D1CS92, D1CS97, D1CS98

Related

ENSP00000424718.2, ENST00000508254.6

Conserved Domains (7) summary

smart00082
Location:529 → 582

LRRCT; Leucine rich repeat C-terminal domain

smart00255
Location:641 → 780

TIR; Toll - interleukin 1 - resistance

PLN00113
Location:353 → 565

PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional

COG4886
Location:43 → 304

LRR; Leucine-rich repeat (LRR) protein [Transcription]

sd00031
Location:54 → 77

LRR_1; leucine-rich repeat [structural motif]

sd00033
Location:36 → 53

LRR_RI; leucine-rich repeat [structural motif]

pfam13855
Location:76 → 133

LRR_8; Leucine rich repeat

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

38822897..38868390 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047449498.1 → XP_047305454.1 toll-like receptor 6 isoform X1

UniProtKB/Swiss-Prot

B3Y640, B6CH35, B6RFS4, B6RFS5, Q2NKL3, Q9Y2C9
XM_047449496.1 → XP_047305452.1 toll-like receptor 6 isoform X1

UniProtKB/Swiss-Prot

B3Y640, B6CH35, B6RFS4, B6RFS5, Q2NKL3, Q9Y2C9

Related

ENSP00000371376.1, ENST00000381950.2
XM_005262637.6 → XP_005262694.1 toll-like receptor 6 isoform X1

See identical proteins and their annotated locations for XP_005262694.1

UniProtKB/Swiss-Prot

B3Y640, B6CH35, B6RFS4, B6RFS5, Q2NKL3, Q9Y2C9

UniProtKB/TrEMBL

B6CH37, D1CS92, D1CS97, D1CS98

Conserved Domains (7) summary

smart00082
Location:529 → 582

LRRCT; Leucine rich repeat C-terminal domain

smart00255
Location:641 → 780

TIR; Toll - interleukin 1 - resistance

PLN00113
Location:353 → 565

PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional

COG4886
Location:43 → 304

LRR; Leucine-rich repeat (LRR) protein [Transcription]

sd00031
Location:54 → 77

LRR_1; leucine-rich repeat [structural motif]

sd00033
Location:36 → 53

LRR_RI; leucine-rich repeat [structural motif]

pfam13855
Location:76 → 133

LRR_8; Leucine rich repeat
XM_011513613.4 → XP_011511915.1 toll-like receptor 6 isoform X1

See identical proteins and their annotated locations for XP_011511915.1

UniProtKB/Swiss-Prot

B3Y640, B6CH35, B6RFS4, B6RFS5, Q2NKL3, Q9Y2C9

UniProtKB/TrEMBL

B6CH37, D1CS92, D1CS97, D1CS98

Conserved Domains (7) summary

smart00082
Location:529 → 582

LRRCT; Leucine rich repeat C-terminal domain

smart00255
Location:641 → 780

TIR; Toll - interleukin 1 - resistance

PLN00113
Location:353 → 565

PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional

COG4886
Location:43 → 304

LRR; Leucine-rich repeat (LRR) protein [Transcription]

sd00031
Location:54 → 77

LRR_1; leucine-rich repeat [structural motif]

sd00033
Location:36 → 53

LRR_RI; leucine-rich repeat [structural motif]

pfam13855
Location:76 → 133

LRR_8; Leucine rich repeat
XM_047449497.1 → XP_047305453.1 toll-like receptor 6 isoform X1

UniProtKB/Swiss-Prot

B3Y640, B6CH35, B6RFS4, B6RFS5, Q2NKL3, Q9Y2C9
XM_024453873.2 → XP_024309641.1 toll-like receptor 6 isoform X1

UniProtKB/Swiss-Prot

B3Y640, B6CH35, B6RFS4, B6RFS5, Q2NKL3, Q9Y2C9

UniProtKB/TrEMBL

B6CH37, D1CS92, D1CS97, D1CS98

Conserved Domains (7) summary

smart00082
Location:529 → 582

LRRCT; Leucine rich repeat C-terminal domain

smart00255
Location:641 → 780

TIR; Toll - interleukin 1 - resistance

PLN00113
Location:353 → 565

PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional

COG4886
Location:43 → 304

LRR; Leucine-rich repeat (LRR) protein [Transcription]

sd00031
Location:54 → 77

LRR_1; leucine-rich repeat [structural motif]

sd00033
Location:36 → 53

LRR_RI; leucine-rich repeat [structural motif]

pfam13855
Location:76 → 133

LRR_8; Leucine rich repeat