Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 7099
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol TLR4   Gene   UCSC   Ensembl
Aliases ARMD10, CD284, TLR-4, TOLL
Gene name toll like receptor 4
Alternate names toll-like receptor 4, hToll, homolog of Drosophila toll,
Gene location 9q33.1 (117704174: 117717490)     Exons: 4     NC_000009.12
Gene summary(Entrez) 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 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 has been implicated in signal transduction events induced by lipopolysaccharide (LPS) found in most gram-negative bacteria. Mutations in this gene have been associated with differences in LPS responsiveness. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
OMIM 603030

SNPs

rs4986790

Strand:    Allele origin: G(germline)/A(germline)  Allele change: A/G/T   Mutation type: snp

CM000671.2   g.117713024A>G
CM000671.2   g.117713024A>T
NC_000009.11   g.120475302A>G
NC_000009.12   g.117713024A>G
NC_000009.12   g.117713024A>T
NG_011475.1   g.13843A>G
NG_011475.1   g.13843A>T
NM_003266.3   c.776A>G
NM_003266.3   c.776A>T
NM_138554.3   c.896A>G
NM_138554.3   c.896A>T
NM_138554.4   c.896A>G
NM_138554.4   c.896A>T
NM_138557.2   c.296A>G
NM_138557.2   c.296A>T
NP_003257.1   p.Asp259Gly
NP_003257.1   p.Asp259Val
NP_612564.1   p.Asp299Gly
NP_612564.1   p.Asp299Val
NP_612567.1   p.Asp99Gly
NP_612567.1   p.Asp99Val
XP_005252239.1   p.Asp297Gly
Clinical Significance: Benign

Protein Summary

Protein general information O00206  

Name: Toll like receptor 4 (hToll) (CD antigen CD284)

Length: 839  Mass: 95,680

Tissue specificity: Highly expressed in placenta, spleen and peripheral blood leukocytes. Detected in monocytes, macrophages, dendritic cells and several types of T-cells. {ECO

Sequence MMSASRLAGTLIPAMAFLSCVRPESWEPCVEVVPNITYQCMELNFYKIPDNLPFSTKNLDLSFNPLRHLGSYSFF
SFPELQVLDLSRCEIQTIEDGAYQSLSHLSTLILTGNPIQSLALGAFSGLSSLQKLVAVETNLASLENFPIGHLK
TLKELNVAHNLIQSFKLPEYFSNLTNLEHLDLSSNKIQSIYCTDLRVLHQMPLLNLSLDLSLNPMNFIQPGAFKE
IRLHKLTLRNNFDSLNVMKTCIQGLAGLEVHRLVLGEFRNEGNLEKFDKSALEGLCNLTIEEFRLAYLDYYLDDI
IDLFNCLTNVSSFSLVSVTIERVKDFSYNFGWQHLELVNCKFGQFPTLKLKSLKRLTFTSNKGGNAFSEVDLPSL
EFLDLSRNGLSFKGCCSQSDFGTTSLKYLDLSFNGVITMSSNFLGLEQLEHLDFQHSNLKQMSEFSVFLSLRNLI
YLDISHTHTRVAFNGIFNGLSSLEVLKMAGNSFQENFLPDIFTELRNLTFLDLSQCQLEQLSPTAFNSLSSLQVL
NMSHNNFFSLDTFPYKCLNSLQVLDYSLNHIMTSKKQELQHFPSSLAFLNLTQNDFACTCEHQSFLQWIKDQRQL
LVEVERMECATPSDKQGMPVLSLNITCQMNKTIIGVSVLSVLVVSVVAVLVYKFYFHLMLLAGCIKYGRGENIYD
AFVIYSSQDEDWVRNELVKNLEEGVPPFQLCLHYRDFIPGVAIAANIIHEGFHKSRKVIVVVSQHFIQSRWCIFE
YEIAQTWQFLSSRAGIIFIVLQKVEKTLLRQQVELYRLLSRNTYLEWEDSVLGRHIFWRRLRKALLDGKSWNPEG
TVGTGCNWQEATSI
Structural information
Protein Domains
LRRCT (579-629)
TIR. (672-818)
Interpro:  IPR000483 IPR032675 IPR001611 IPR003591 IPR000157 IPR027168
Prosite:   PS51450 PS50104

Pfam:  
PF13516 PF13855 PF01582

PDB:  
2Z62 2Z63 2Z65 2Z66 3FXI 3UL7 3UL8 3UL9 3ULA 4G8A
PDBsum:   2Z62 2Z63 2Z65 2Z66 3FXI 3UL7 3UL8 3UL9 3ULA 4G8A

DIP:  
34769
MINT:   3981856
STRING:   ENSP00000363089;
Other Databases GeneCards:  TLR4;  Malacards:  TLR4

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0000187 activation of MAPK activi
ty
ISS biological_process
GO:0001530 lipopolysaccharide bindin
g
NAS molecular_function
GO:0001530 lipopolysaccharide bindin
g
IMP molecular_function
GO:0001875 lipopolysaccharide recept
or activity
IDA molecular_function
GO:0002224 toll-like receptor signal
ing pathway
IBA biological_process
GO:0002322 B cell proliferation invo
lved in immune response
IEA biological_process
GO:0002537 nitric oxide production i
nvolved in inflammatory r
esponse
IEA biological_process
GO:0002730 regulation of dendritic c
ell cytokine production
IEA biological_process
GO:0002755 MyD88-dependent toll-like
receptor signaling pathw
ay
TAS biological_process
GO:0002756 MyD88-independent toll-li
ke receptor signaling pat
hway
TAS biological_process
GO:0004872 receptor activity
TAS molecular_function
GO:0004888 transmembrane signaling r
eceptor activity
NAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005737 cytoplasm
IDA cellular_component
GO:0005886 plasma membrane
IDA cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005887 integral component of pla
sma membrane
IDA cellular_component
GO:0006954 inflammatory response
IBA biological_process
GO:0006955 immune response
TAS biological_process
GO:0007249 I-kappaB kinase/NF-kappaB
signaling
TAS biological_process
GO:0007252 I-kappaB phosphorylation
IDA biological_process
GO:0009897 external side of plasma m
embrane
IDA cellular_component
GO:0009986 cell surface
IDA cellular_component
GO:0010008 endosome membrane
TAS cellular_component
GO:0010008 endosome membrane
TAS cellular_component
GO:0010008 endosome membrane
TAS cellular_component
GO:0010008 endosome membrane
TAS cellular_component
GO:0010008 endosome membrane
TAS cellular_component
GO:0010008 endosome membrane
TAS cellular_component
GO:0010008 endosome membrane
TAS cellular_component
GO:0010008 endosome membrane
TAS cellular_component
GO:0010008 endosome membrane
TAS cellular_component
GO:0010008 endosome membrane
TAS cellular_component
GO:0010008 endosome membrane
TAS cellular_component
GO:0010008 endosome membrane
TAS cellular_component
GO:0010008 endosome membrane
TAS cellular_component
GO:0010008 endosome membrane
TAS cellular_component
GO:0010008 endosome membrane
TAS cellular_component
GO:0010008 endosome membrane
TAS cellular_component
GO:0010008 endosome membrane
TAS cellular_component
GO:0010008 endosome membrane
TAS cellular_component
GO:0010008 endosome membrane
TAS cellular_component
GO:0010008 endosome membrane
TAS cellular_component
GO:0010008 endosome membrane
TAS cellular_component
GO:0010008 endosome membrane
TAS cellular_component
GO:0010572 positive regulation of pl
atelet activation
ISS biological_process
GO:0010628 positive regulation of ge
ne expression
IMP biological_process
GO:0014002 astrocyte development
IEA biological_process
GO:0016046 detection of fungus
NAS biological_process
GO:0030890 positive regulation of B
cell proliferation
IEA biological_process
GO:0031226 intrinsic component of pl
asma membrane
IDA cellular_component
GO:0031663 lipopolysaccharide-mediat
ed signaling pathway
IGI biological_process
GO:0032496 response to lipopolysacch
aride
IDA biological_process
GO:0032496 response to lipopolysacch
aride
IC biological_process
GO:0032497 detection of lipopolysacc
haride
IDA biological_process
GO:0032609 interferon-gamma producti
on
IEA biological_process
GO:0032689 negative regulation of in
terferon-gamma production
ISS biological_process
GO:0032700 negative regulation of in
terleukin-17 production
ISS biological_process
GO:0032707 negative regulation of in
terleukin-23 production
ISS biological_process
GO:0032715 negative regulation of in
terleukin-6 production
ISS biological_process
GO:0032720 negative regulation of tu
mor necrosis factor produ
ction
ISS biological_process
GO:0032722 positive regulation of ch
emokine production
IDA biological_process
GO:0032727 positive regulation of in
terferon-alpha production
ISS biological_process
GO:0032728 positive regulation of in
terferon-beta production
ISS biological_process
GO:0032729 positive regulation of in
terferon-gamma production
ISS biological_process
GO:0032732 positive regulation of in
terleukin-1 production
ISS biological_process
GO:0032733 positive regulation of in
terleukin-10 production
ISS biological_process
GO:0032735 positive regulation of in
terleukin-12 production
ISS biological_process
GO:0032755 positive regulation of in
terleukin-6 production
IDA biological_process
GO:0032757 positive regulation of in
terleukin-8 production
IDA biological_process
GO:0032760 positive regulation of tu
mor necrosis factor produ
ction
ISS biological_process
GO:0034128 negative regulation of My
D88-independent toll-like
receptor signaling pathw
ay
TAS biological_process
GO:0034142 toll-like receptor 4 sign
aling pathway
TAS biological_process
GO:0035666 TRIF-dependent toll-like
receptor signaling pathwa
y
TAS biological_process
GO:0035666 TRIF-dependent toll-like
receptor signaling pathwa
y
TAS biological_process
GO:0042088 T-helper 1 type immune re
sponse
NAS biological_process
GO:0042116 macrophage activation
IMP biological_process
GO:0042346 positive regulation of NF
-kappaB import into nucle
us
IDA biological_process
GO:0042535 positive regulation of tu
mor necrosis factor biosy
nthetic process
IDA biological_process
GO:0042742 defense response to bacte
rium
TAS biological_process
GO:0045084 positive regulation of in
terleukin-12 biosynthetic
process
IDA biological_process
GO:0045087 innate immune response
TAS biological_process
GO:0045348 positive regulation of MH
C class II biosynthetic p
rocess
IEA biological_process
GO:0045359 positive regulation of in
terferon-beta biosyntheti
c process
IEA biological_process
GO:0045416 positive regulation of in
terleukin-8 biosynthetic
process
IDA biological_process
GO:0045429 positive regulation of ni
tric oxide biosynthetic p
rocess
IEA biological_process
GO:0045671 negative regulation of os
teoclast differentiation
NAS biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
ISS biological_process
GO:0046330 positive regulation of JN
K cascade
IEA biological_process
GO:0046696 lipopolysaccharide recept
or complex
IDA cellular_component
GO:0046696 lipopolysaccharide recept
or complex
IDA cellular_component
GO:0048471 perinuclear region of cyt
oplasm
IDA cellular_component
GO:0050702 interleukin-1 beta secret
ion
ISS biological_process
GO:0050707 regulation of cytokine se
cretion
IEA biological_process
GO:0050729 positive regulation of in
flammatory response
IC biological_process
GO:0050829 defense response to Gram-
negative bacterium
IBA biological_process
GO:0050829 defense response to Gram-
negative bacterium
IC biological_process
GO:0051092 positive regulation of NF
-kappaB transcription fac
tor activity
IDA biological_process
GO:0051770 positive regulation of ni
tric-oxide synthase biosy
nthetic process
ISS biological_process
GO:0060729 intestinal epithelial str
ucture maintenance
ISS biological_process
GO:0060907 positive regulation of ma
crophage cytokine product
ion
IEA biological_process
GO:0070266 necroptotic process
TAS biological_process
GO:0070373 negative regulation of ER
K1 and ERK2 cascade
ISS biological_process
GO:0070374 positive regulation of ER
K1 and ERK2 cascade
IEA biological_process
GO:0070430 positive regulation of nu
cleotide-binding oligomer
ization domain containing
1 signaling pathway
IEA biological_process
GO:0070434 positive regulation of nu
cleotide-binding oligomer
ization domain containing
2 signaling pathway
IEA biological_process
GO:0071222 cellular response to lipo
polysaccharide
ISS biological_process
GO:0071223 cellular response to lipo
teichoic acid
IEA biological_process
GO:0071260 cellular response to mech
anical stimulus
IEP biological_process
GO:0097190 apoptotic signaling pathw
ay
TAS biological_process
GO:1900227 positive regulation of NL
RP3 inflammasome complex
assembly
ISS biological_process
GO:0031663 lipopolysaccharide-mediat
ed signaling pathway
IDA biological_process
GO:0000187 activation of MAPK activi
ty
IEA biological_process
GO:0000187 activation of MAPK activi
ty
ISS biological_process
GO:0001530 lipopolysaccharide bindin
g
NAS molecular_function
GO:0001530 lipopolysaccharide bindin
g
IMP molecular_function
GO:0001875 lipopolysaccharide recept
or activity
IDA molecular_function
GO:0002218 activation of innate immu
ne response
IEA biological_process
GO:0002224 toll-like receptor signal
ing pathway
IBA biological_process
GO:0002322 B cell proliferation invo
lved in immune response
IEA biological_process
GO:0002376 immune system process
IEA biological_process
GO:0002537 nitric oxide production i
nvolved in inflammatory r
esponse
IEA biological_process
GO:0002730 regulation of dendritic c
ell cytokine production
IEA biological_process
GO:0002755 MyD88-dependent toll-like
receptor signaling pathw
ay
IEA biological_process
GO:0002755 MyD88-dependent toll-like
receptor signaling pathw
ay
TAS biological_process
GO:0002756 MyD88-independent toll-li
ke receptor signaling pat
hway
TAS biological_process
GO:0004872 receptor activity
TAS molecular_function
GO:0004888 transmembrane signaling r
eceptor activity
IEA molecular_function
GO:0004888 transmembrane signaling r
eceptor activity
NAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005737 cytoplasm
IDA cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0005886 plasma membrane
IDA cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005887 integral component of pla
sma membrane
IDA cellular_component
GO:0006954 inflammatory response
IBA biological_process
GO:0006954 inflammatory response
IEA biological_process
GO:0006955 immune response
TAS biological_process
GO:0007165 signal transduction
IEA biological_process
GO:0007249 I-kappaB kinase/NF-kappaB
signaling
TAS biological_process
GO:0007252 I-kappaB phosphorylation
IEA biological_process
GO:0007252 I-kappaB phosphorylation
IDA biological_process
GO:0009617 response to bacterium
IEA biological_process
GO:0009897 external side of plasma m
embrane
IDA cellular_component
GO:0009986 cell surface
IDA cellular_component
GO:0010008 endosome membrane
TAS cellular_component
GO:0010008 endosome membrane
TAS cellular_component
GO:0010008 endosome membrane
TAS cellular_component
GO:0010008 endosome membrane
TAS cellular_component
GO:0010008 endosome membrane
TAS cellular_component
GO:0010008 endosome membrane
TAS cellular_component
GO:0010008 endosome membrane
TAS cellular_component
GO:0010008 endosome membrane
TAS cellular_component
GO:0010008 endosome membrane
TAS cellular_component
GO:0010008 endosome membrane
TAS cellular_component
GO:0010008 endosome membrane
TAS cellular_component
GO:0010008 endosome membrane
TAS cellular_component
GO:0010008 endosome membrane
TAS cellular_component
GO:0010008 endosome membrane
TAS cellular_component
GO:0010008 endosome membrane
TAS cellular_component
GO:0010008 endosome membrane
TAS cellular_component
GO:0010008 endosome membrane
TAS cellular_component
GO:0010008 endosome membrane
TAS cellular_component
GO:0010008 endosome membrane
TAS cellular_component
GO:0010008 endosome membrane
TAS cellular_component
GO:0010008 endosome membrane
TAS cellular_component
GO:0010008 endosome membrane
TAS cellular_component
GO:0010572 positive regulation of pl
atelet activation
IEA biological_process
GO:0010572 positive regulation of pl
atelet activation
ISS biological_process
GO:0010628 positive regulation of ge
ne expression
IMP biological_process
GO:0014002 astrocyte development
IEA biological_process
GO:0016020 membrane
IEA cellular_component
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0016046 detection of fungus
NAS biological_process
GO:0030890 positive regulation of B
cell proliferation
IEA biological_process
GO:0031226 intrinsic component of pl
asma membrane
IDA cellular_component
GO:0031663 lipopolysaccharide-mediat
ed signaling pathway
IGI biological_process
GO:0032496 response to lipopolysacch
aride
IEA biological_process
GO:0032496 response to lipopolysacch
aride
IDA biological_process
GO:0032496 response to lipopolysacch
aride
IC biological_process
GO:0032497 detection of lipopolysacc
haride
IDA biological_process
GO:0032609 interferon-gamma producti
on
IEA biological_process
GO:0032689 negative regulation of in
terferon-gamma production
IEA biological_process
GO:0032689 negative regulation of in
terferon-gamma production
ISS biological_process
GO:0032700 negative regulation of in
terleukin-17 production
IEA biological_process
GO:0032700 negative regulation of in
terleukin-17 production
ISS biological_process
GO:0032707 negative regulation of in
terleukin-23 production
IEA biological_process
GO:0032707 negative regulation of in
terleukin-23 production
ISS biological_process
GO:0032715 negative regulation of in
terleukin-6 production
IEA biological_process
GO:0032715 negative regulation of in
terleukin-6 production
ISS biological_process
GO:0032720 negative regulation of tu
mor necrosis factor produ
ction
IEA biological_process
GO:0032720 negative regulation of tu
mor necrosis factor produ
ction
ISS biological_process
GO:0032722 positive regulation of ch
emokine production
IEA biological_process
GO:0032722 positive regulation of ch
emokine production
IDA biological_process
GO:0032727 positive regulation of in
terferon-alpha production
IEA biological_process
GO:0032727 positive regulation of in
terferon-alpha production
ISS biological_process
GO:0032728 positive regulation of in
terferon-beta production
IEA biological_process
GO:0032728 positive regulation of in
terferon-beta production
ISS biological_process
GO:0032729 positive regulation of in
terferon-gamma production
IEA biological_process
GO:0032729 positive regulation of in
terferon-gamma production
ISS biological_process
GO:0032732 positive regulation of in
terleukin-1 production
IEA biological_process
GO:0032732 positive regulation of in
terleukin-1 production
ISS biological_process
GO:0032733 positive regulation of in
terleukin-10 production
IEA biological_process
GO:0032733 positive regulation of in
terleukin-10 production
ISS biological_process
GO:0032735 positive regulation of in
terleukin-12 production
IEA biological_process
GO:0032735 positive regulation of in
terleukin-12 production
ISS biological_process
GO:0032755 positive regulation of in
terleukin-6 production
IEA biological_process
GO:0032755 positive regulation of in
terleukin-6 production
IDA biological_process
GO:0032757 positive regulation of in
terleukin-8 production
IDA biological_process
GO:0032760 positive regulation of tu
mor necrosis factor produ
ction
IEA biological_process
GO:0032760 positive regulation of tu
mor necrosis factor produ
ction
ISS biological_process
GO:0032874 positive regulation of st
ress-activated MAPK casca
de
IEA biological_process
GO:0034128 negative regulation of My
D88-independent toll-like
receptor signaling pathw
ay
TAS biological_process
GO:0034142 toll-like receptor 4 sign
aling pathway
IEA biological_process
GO:0034142 toll-like receptor 4 sign
aling pathway
TAS biological_process
GO:0035666 TRIF-dependent toll-like
receptor signaling pathwa
y
TAS biological_process
GO:0035666 TRIF-dependent toll-like
receptor signaling pathwa
y
TAS biological_process
GO:0042088 T-helper 1 type immune re
sponse
NAS biological_process
GO:0042116 macrophage activation
IEA biological_process
GO:0042116 macrophage activation
IMP biological_process
GO:0042346 positive regulation of NF
-kappaB import into nucle
us
IDA biological_process
GO:0042535 positive regulation of tu
mor necrosis factor biosy
nthetic process
IDA biological_process
GO:0042742 defense response to bacte
rium
TAS biological_process
GO:0043123 positive regulation of I-
kappaB kinase/NF-kappaB s
ignaling
IEA biological_process
GO:0045084 positive regulation of in
terleukin-12 biosynthetic
process
IDA biological_process
GO:0045087 innate immune response
IEA biological_process
GO:0045087 innate immune response
IEA biological_process
GO:0045087 innate immune response
TAS biological_process
GO:0045348 positive regulation of MH
C class II biosynthetic p
rocess
IEA biological_process
GO:0045359 positive regulation of in
terferon-beta biosyntheti
c process
IEA biological_process
GO:0045416 positive regulation of in
terleukin-8 biosynthetic
process
IDA biological_process
GO:0045429 positive regulation of ni
tric oxide biosynthetic p
rocess
IEA biological_process
GO:0045671 negative regulation of os
teoclast differentiation
NAS biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IEA biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
ISS biological_process
GO:0046330 positive regulation of JN
K cascade
IEA biological_process
GO:0046696 lipopolysaccharide recept
or complex
IEA cellular_component
GO:0046696 lipopolysaccharide recept
or complex
IDA cellular_component
GO:0046696 lipopolysaccharide recept
or complex
IDA cellular_component
GO:0048471 perinuclear region of cyt
oplasm
IDA cellular_component
GO:0050671 positive regulation of ly
mphocyte proliferation
IEA biological_process
GO:0050702 interleukin-1 beta secret
ion
IEA biological_process
GO:0050702 interleukin-1 beta secret
ion
ISS biological_process
GO:0050707 regulation of cytokine se
cretion
IEA biological_process
GO:0050727 regulation of inflammator
y response
IEA biological_process
GO:0050729 positive regulation of in
flammatory response
IC biological_process
GO:0050829 defense response to Gram-
negative bacterium
IEA biological_process
GO:0050829 defense response to Gram-
negative bacterium
IEA biological_process
GO:0050829 defense response to Gram-
negative bacterium
IBA biological_process
GO:0050829 defense response to Gram-
negative bacterium
IC biological_process
GO:0051092 positive regulation of NF
-kappaB transcription fac
tor activity
IDA biological_process
GO:0051770 positive regulation of ni
tric-oxide synthase biosy
nthetic process
IEA biological_process
GO:0051770 positive regulation of ni
tric-oxide synthase biosy
nthetic process
ISS biological_process
GO:0060729 intestinal epithelial str
ucture maintenance
IEA biological_process
GO:0060729 intestinal epithelial str
ucture maintenance
ISS biological_process
GO:0060907 positive regulation of ma
crophage cytokine product
ion
IEA biological_process
GO:0070266 necroptotic process
TAS biological_process
GO:0070373 negative regulation of ER
K1 and ERK2 cascade
IEA biological_process
GO:0070373 negative regulation of ER
K1 and ERK2 cascade
ISS biological_process
GO:0070374 positive regulation of ER
K1 and ERK2 cascade
IEA biological_process
GO:0070430 positive regulation of nu
cleotide-binding oligomer
ization domain containing
1 signaling pathway
IEA biological_process
GO:0070434 positive regulation of nu
cleotide-binding oligomer
ization domain containing
2 signaling pathway
IEA biological_process
GO:0071222 cellular response to lipo
polysaccharide
IEA biological_process
GO:0071222 cellular response to lipo
polysaccharide
ISS biological_process
GO:0071223 cellular response to lipo
teichoic acid
IEA biological_process
GO:0071260 cellular response to mech
anical stimulus
IEP biological_process
GO:0097190 apoptotic signaling pathw
ay
TAS biological_process
GO:1900227 positive regulation of NL
RP3 inflammasome complex
assembly
IEA biological_process
GO:1900227 positive regulation of NL
RP3 inflammasome complex
assembly
ISS biological_process
GO:0031663 lipopolysaccharide-mediat
ed signaling pathway
IDA biological_process
GO:0000187 activation of MAPK activi
ty
ISS biological_process
GO:0001530 lipopolysaccharide bindin
g
NAS molecular_function
GO:0001530 lipopolysaccharide bindin
g
IMP molecular_function
GO:0001875 lipopolysaccharide recept
or activity
IDA molecular_function
GO:0002224 toll-like receptor signal
ing pathway
IBA biological_process
GO:0002755 MyD88-dependent toll-like
receptor signaling pathw
ay
TAS biological_process
GO:0002756 MyD88-independent toll-li
ke receptor signaling pat
hway
TAS biological_process
GO:0004872 receptor activity
TAS molecular_function
GO:0004888 transmembrane signaling r
eceptor activity
NAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005737 cytoplasm
IDA cellular_component
GO:0005886 plasma membrane
IDA cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005887 integral component of pla
sma membrane
IDA cellular_component
GO:0006954 inflammatory response
IBA biological_process
GO:0006955 immune response
TAS biological_process
GO:0007249 I-kappaB kinase/NF-kappaB
signaling
TAS biological_process
GO:0007252 I-kappaB phosphorylation
IDA biological_process
GO:0009897 external side of plasma m
embrane
IDA cellular_component
GO:0009986 cell surface
IDA cellular_component
GO:0010008 endosome membrane
TAS cellular_component
GO:0010008 endosome membrane
TAS cellular_component
GO:0010008 endosome membrane
TAS cellular_component
GO:0010008 endosome membrane
TAS cellular_component
GO:0010008 endosome membrane
TAS cellular_component
GO:0010008 endosome membrane
TAS cellular_component
GO:0010008 endosome membrane
TAS cellular_component
GO:0010008 endosome membrane
TAS cellular_component
GO:0010008 endosome membrane
TAS cellular_component
GO:0010008 endosome membrane
TAS cellular_component
GO:0010008 endosome membrane
TAS cellular_component
GO:0010008 endosome membrane
TAS cellular_component
GO:0010008 endosome membrane
TAS cellular_component
GO:0010008 endosome membrane
TAS cellular_component
GO:0010008 endosome membrane
TAS cellular_component
GO:0010008 endosome membrane
TAS cellular_component
GO:0010008 endosome membrane
TAS cellular_component
GO:0010008 endosome membrane
TAS cellular_component
GO:0010008 endosome membrane
TAS cellular_component
GO:0010008 endosome membrane
TAS cellular_component
GO:0010008 endosome membrane
TAS cellular_component
GO:0010008 endosome membrane
TAS cellular_component
GO:0010572 positive regulation of pl
atelet activation
ISS biological_process
GO:0010628 positive regulation of ge
ne expression
IMP biological_process
GO:0016046 detection of fungus
NAS biological_process
GO:0031226 intrinsic component of pl
asma membrane
IDA cellular_component
GO:0031663 lipopolysaccharide-mediat
ed signaling pathway
IGI biological_process
GO:0032496 response to lipopolysacch
aride
IDA biological_process
GO:0032496 response to lipopolysacch
aride
IC biological_process
GO:0032497 detection of lipopolysacc
haride
IDA biological_process
GO:0032689 negative regulation of in
terferon-gamma production
ISS biological_process
GO:0032700 negative regulation of in
terleukin-17 production
ISS biological_process
GO:0032707 negative regulation of in
terleukin-23 production
ISS biological_process
GO:0032715 negative regulation of in
terleukin-6 production
ISS biological_process
GO:0032720 negative regulation of tu
mor necrosis factor produ
ction
ISS biological_process
GO:0032722 positive regulation of ch
emokine production
IDA biological_process
GO:0032727 positive regulation of in
terferon-alpha production
ISS biological_process
GO:0032728 positive regulation of in
terferon-beta production
ISS biological_process
GO:0032729 positive regulation of in
terferon-gamma production
ISS biological_process
GO:0032732 positive regulation of in
terleukin-1 production
ISS biological_process
GO:0032733 positive regulation of in
terleukin-10 production
ISS biological_process
GO:0032735 positive regulation of in
terleukin-12 production
ISS biological_process
GO:0032755 positive regulation of in
terleukin-6 production
IDA biological_process
GO:0032757 positive regulation of in
terleukin-8 production
IDA biological_process
GO:0032760 positive regulation of tu
mor necrosis factor produ
ction
ISS biological_process
GO:0034128 negative regulation of My
D88-independent toll-like
receptor signaling pathw
ay
TAS biological_process
GO:0034142 toll-like receptor 4 sign
aling pathway
TAS biological_process
GO:0035666 TRIF-dependent toll-like
receptor signaling pathwa
y
TAS biological_process
GO:0035666 TRIF-dependent toll-like
receptor signaling pathwa
y
TAS biological_process
GO:0042088 T-helper 1 type immune re
sponse
NAS biological_process
GO:0042116 macrophage activation
IMP biological_process
GO:0042346 positive regulation of NF
-kappaB import into nucle
us
IDA biological_process
GO:0042535 positive regulation of tu
mor necrosis factor biosy
nthetic process
IDA biological_process
GO:0042742 defense response to bacte
rium
TAS biological_process
GO:0045084 positive regulation of in
terleukin-12 biosynthetic
process
IDA biological_process
GO:0045087 innate immune response
TAS biological_process
GO:0045416 positive regulation of in
terleukin-8 biosynthetic
process
IDA biological_process
GO:0045671 negative regulation of os
teoclast differentiation
NAS biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
ISS biological_process
GO:0046696 lipopolysaccharide recept
or complex
IDA cellular_component
GO:0046696 lipopolysaccharide recept
or complex
IDA cellular_component
GO:0048471 perinuclear region of cyt
oplasm
IDA cellular_component
GO:0050702 interleukin-1 beta secret
ion
ISS biological_process
GO:0050729 positive regulation of in
flammatory response
IC biological_process
GO:0050829 defense response to Gram-
negative bacterium
IBA biological_process
GO:0050829 defense response to Gram-
negative bacterium
IC biological_process
GO:0051092 positive regulation of NF
-kappaB transcription fac
tor activity
IDA biological_process
GO:0051770 positive regulation of ni
tric-oxide synthase biosy
nthetic process
ISS biological_process
GO:0060729 intestinal epithelial str
ucture maintenance
ISS biological_process
GO:0070266 necroptotic process
TAS biological_process
GO:0070373 negative regulation of ER
K1 and ERK2 cascade
ISS biological_process
GO:0071222 cellular response to lipo
polysaccharide
ISS biological_process
GO:0071260 cellular response to mech
anical stimulus
IEP biological_process
GO:0097190 apoptotic signaling pathw
ay
TAS biological_process
GO:1900227 positive regulation of NL
RP3 inflammasome complex
assembly
ISS biological_process
GO:0031663 lipopolysaccharide-mediat
ed signaling pathway
IDA biological_process

KEGG pathways

hsa04151  PI3K-Akt signaling pathway
hsa05205  Proteoglycans in cancer
hsa05152  Tuberculosis
hsa05161  Hepatitis B
hsa05164  Influenza A
hsa05145  Toxoplasmosis
hsa04621  NOD-like receptor signaling pathway
hsa05142  Chagas disease
hsa05162  Measles
hsa04145  Phagosome
hsa04066  HIF-1 signaling pathway
hsa05323  Rheumatoid arthritis
hsa05321  Inflammatory bowel disease
hsa04620  Toll-like receptor signaling pathway
hsa05146  Amoebiasis
hsa05140  Leishmaniasis
hsa04217  Necroptosis
hsa05133  Pertussis
hsa04064  NF-kappa B signaling pathway
hsa05134  Legionellosis
hsa05132  Salmonella infection
hsa05144  Malaria
hsa05130  Pathogenic Escherichia coli infection
PTHR44568:SF1  Toll receptor signaling pathway

Diseases

Associated diseases References
Ankylosing spondylitis PMID: 15647432
Arthritis PMID: 12846053
Asthma PMID: 15007351
Atherosclerosis PMID: 17849054
Atopy PMID: 16142747
Celiac disease PMID: 17927684
Chronic obstructive pulmonary disease (COPD) PMID: 16219455
Crohn's disease PMID: 15655821
Cystic fibrosis PMID: 16830219
Diabetes PMID: 18298826
Endometrial cancer PMID: 18775079
Endometriosis PMID: 23252918
Endotoxemia PMID: 18307517
Guillain-Barre syndrome PMID: 15081257
Hypersensitivity PMID: 18001295
Idiopathic male infertility PMID: 26227162
Inflammatory bowel disease PMID: 15905704
Leukocytospermia PMID: 26227162
Macular degeneration KEGG: H00821
Endometriosis associated infertility INFBASE26177128
Endometrial cancer INFBASE18775079
Endometriosis INFBASE18775079
Mental disorders PMID: 20889312
Multiple sclerosis PMID: 12622779
Myocardial infarction PMID: 15864121
Osteoporosis PMID: 17381056
Otitis media PMID: 17908769
Pancreatitis PMID: 17124436
Parkinson's disease PMID: 17052657
Pelvic inflammatory disease (PID) PMID: 23255565
Periodontitis PMID: 15875057
Polycystic ovary syndrome (PCOS) PMID: 27367829
Pregnancy loss PMID: 16982657
Preterm delivery PMID: 15516360
Rheumatoid arthritis PMID: 14651524
Sarcoidosis PMID: 16487240
Schizophrenia PMID: 19571808
Scleroderma PMID: 17100974
Systemic inflammatory hyporesponsiveness PMID: 14610481
Systemic lupus erythematosus PMID: 14651524
Tubal factor infertility PMID: 20598754
Tubal factor infertility PMID: 20598754
Ulcerative colitis PMID: 16085746

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
23252918 Endometrio
sis

37 patients wit
h endometrial c
ysts
COX-2
mPGES-1
and TLR4
Show abstract
21214494 Endometrio
sis
TLR4 A896G polymorphism (rs4986790)
400 (200 surgic
ally confirmed
cases of endome
triosis, 200 he
althy women)
TLR4
Show abstract
18775079 Endometrio
sis


TLR3
TLR4
Show abstract
26177128 Endometrio
sis
TLR2 2258G (guanine)/ A, IFN-gamma (+874T/A)
275 (175 FGTB p
atients and 100
healthy contro
ls )
Female infertility TLR2
TLR4
Show abstract