Free for academic non-profit institutions. Other users need a Commercial license

Aliases for TLR4 Gene

Aliases for TLR4 Gene

  • Toll Like Receptor 4 2 3 5
  • Toll-Like Receptor 4 2 3
  • HToll 3 4
  • Homolog Of Drosophila Toll 3
  • CD284 Antigen 4
  • ARMD10 3
  • CD284 3
  • TLR-4 3
  • TOLL 3

External Ids for TLR4 Gene

Previous GeneCards Identifiers for TLR4 Gene

  • GC09P111571
  • GC09P112113
  • GC09P113920
  • GC09P115842
  • GC09P117546
  • GC09P119506
  • GC09P120466
  • GC09P090084

Summaries for TLR4 Gene

Entrez Gene Summary for TLR4 Gene

  • 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]

GeneCards Summary for TLR4 Gene

TLR4 (Toll Like Receptor 4) is a Protein Coding gene. Diseases associated with TLR4 include Macular Degeneration, Age-Related, 10 and Colorectal Cancer. Among its related pathways are TRAF Pathway and Bacterial infections in CF airways. GO annotations related to this gene include receptor activity and lipopolysaccharide binding. An important paralog of this gene is TLR8.

UniProtKB/Swiss-Prot for TLR4 Gene

  • Cooperates with LY96 and CD14 to mediate the innate immune response to bacterial lipopolysaccharide (LPS). Acts via MYD88, TIRAP and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response (PubMed:9237759, PubMed:10835634). Also involved in LPS-independent inflammatory responses triggered by free fatty acids, such as palmitate, and Ni(2+). Responses triggered by Ni(2+) require non-conserved histidines and are, therefore, species-specific (PubMed:20711192). Both M.tuberculosis HSP70 (dnaK) and HSP65 (groEL-2) act via this protein to stimulate NF-kappa-B expression (PubMed:15809303). In complex with TLR6, promotes sterile inflammation in monocytes/macrophages in response to oxidized low-density lipoprotein (oxLDL) or amyloid-beta 42. In this context, the initial signal is provided by oxLDL- or amyloid-beta 42-binding to CD36. This event induces the formation of a heterodimer of TLR4 and TLR6, which is rapidly internalized and triggers inflammatory response, leading to the NF-kappa-B-dependent production of CXCL1, CXCL2 and CCL9 cytokines, via MYD88 signaling pathway, and CCL5 cytokine, via TICAM1 signaling pathway, as well as IL1B secretion. Binds electronegative LDL (LDL(-)) and mediates the cytokine release induced by LDL(-) (PubMed:23880187). Stimulation of monocytes in vitro with M.tuberculosis PstS1 induces p38 MAPK and ERK1/2 activation primarily via TLR2, but also partially via this receptor (PubMed:16622205).

Tocris Summary for TLR4 Gene

  • Toll-like receptors (TLRs) are single transmembrane cell-surface receptors, which have a key role in the innate immune system. TLRs generally exist as homodimers (heterodimers have been reported) and are found on immune cells; macrophages, B lymphocytes and mast cells.

Gene Wiki entry for TLR4 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TLR4 Gene

Genomics for TLR4 Gene

Regulatory Elements for TLR4 Gene

Enhancers for TLR4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09G117723 1.4 FANTOM5 Ensembl ENCODE dbSUPER 26.3 +20.8 20775 2.7 MAX HNF4A FOXA1 NR2F2 TLR4 GC09M117708 RNU6-1082P LOC105376244
GH09G117744 0.9 FANTOM5 Ensembl 31 +40.8 40793 1.3 POLR2A SMARCA4 DPF2 EZH2 TLR4 RNU6-1082P LOC105376244 GC09M117708
GH09G117717 1.6 FANTOM5 Ensembl ENCODE dbSUPER 9.4 +14.7 14693 2.1 FOXA2 ZNF384 RARA ETV6 RELB IKZF2 GATAD2A MTA2 FOXA3 NR2F1 TLR4 RNU6-1082P GC09M117708 LOC105376244
GH09G117644 0.9 Ensembl ENCODE 10.6 -59.3 -59275 1.0 CTCF ZNF654 HLF WRNIP1 TRIM22 CEBPB REST RAD21 CEBPA GABPB1 TLR4 RNU6-1082P LOC101928797 LOC105376242
GH09G117733 1 FANTOM5 ENCODE 9.4 +30.7 30684 2.1 BHLHE40 TAL1 DPF2 CHAMP1 NR2F2 SREBF1 ARID1B TCF12 NFIC RAD51 TLR4 LOC105376244 RNU6-1082P GC09M117708
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TLR4 on UCSC Golden Path with GeneCards custom track

Promoters for TLR4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000240672 1225 2801 TBP CTCF TAF1 JUN MAX RAD21 GATA2 CBX5 POLR2A NFYB

Genomic Location for TLR4 Gene

Chromosome:
9
Start:
117,704,175 bp from pter
End:
117,717,491 bp from pter
Size:
13,317 bases
Orientation:
Plus strand

Genomic View for TLR4 Gene

Genes around TLR4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TLR4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TLR4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TLR4 Gene

Proteins for TLR4 Gene

  • Protein details for TLR4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00206-TLR4_HUMAN
    Recommended name:
    Toll-like receptor 4
    Protein Accession:
    O00206
    Secondary Accessions:
    • A8K1Y8
    • A9XLP9
    • A9XLQ0
    • A9XLQ1
    • B4E194
    • D1CS52
    • D1CS53
    • Q5VZI8
    • Q5VZI9
    • Q9UK78
    • Q9UM57

    Protein attributes for TLR4 Gene

    Size:
    839 amino acids
    Molecular mass:
    95680 Da
    Quaternary structure:
    • Belongs to the lipopolysaccharide (LPS) receptor, a multi-protein complex containing at least CD14, LY96 and TLR4 (PubMed:11274165). Binding to bacterial LPS leads to homodimerization. Interacts with LY96 via the extracellular domain (PubMed:17803912, PubMed:19252480). Interacts with MYD88 and TIRAP via their respective TIR domains (By similarity). Interacts with TICAM2 (PubMed:14519765, PubMed:25736436). Interacts with NOX4 (PubMed:15356101). Interacts with CNPY3 (By similarity). Interacts with HSP90B1. The interaction with both CNPY3 and HSP90B1 is required for proper folding in the endoplasmic reticulum. Interacts with MLK4; this interaction leads to negative regulation of TLR4 signaling (PubMed:21602844). Interacts with CD36, following CD36 stimulation by oxLDL or amyloid-beta 42, and forms a heterodimer with TLR6 (PubMed:20037584). The trimeric complex is internalized and triggers inflammatory response. LYN kinase activity facilitates TLR4-TLR6 heterodimerization and signal initiation. Interacts with TICAM1 in response to LPS in a WDFY1-dependent manner (PubMed:25736436). Interacts with WDFY1 in response to LPS (By similarity). Interacts with SMPDL3B (By similarity). Interacts with CEACAM1; upon lipopolysaccharide stimulation, forms a complex including TLR4 and the phosphorylated form of SYK and CEACAM1, which in turn, recruits PTPN6 that dephosphorylates SYK, reducing the production of reactive oxygen species (ROS) and lysosome disruption, which in turn, reduces the activity of the inflammasome (By similarity).
    Miscellaneous:
    • His-456 and His-458 are found in TLR4 of human and several other primate species and may be responsible for inflammatory responses triggered by nickel (Ni(2+)). Ni(2+) may cross-link the two receptor monomers through specific histidines, triggering the formation of a dimer that structurally resembles that induced by LPS. This process may be the basis for the development of contact allergy to Ni(2+). A mouse model of contact allergy to Ni(2+) in which TLR4-deficient mice expresses human TLR4 has been proposed.

    Three dimensional structures from OCA and Proteopedia for TLR4 Gene

    Alternative splice isoforms for TLR4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TLR4 Gene

Post-translational modifications for TLR4 Gene

  • N-glycosylated. Glycosylation of Asn-526 and Asn-575 seems to be necessary for the expression of TLR4 on the cell surface and the LPS-response. Likewise, mutants lacking two or more of the other N-glycosylation sites were deficient in interaction with LPS.
  • Glycosylation at Asn35, isoforms=2173, Asn205, isoforms=2, 3282, Asn309, Asn497, isoforms=2, 3526, posLast=575575, Asn624, and Asn630
  • Modification sites at PhosphoSitePlus

Other Protein References for TLR4 Gene

No data available for DME Specific Peptides for TLR4 Gene

Domains & Families for TLR4 Gene

Gene Families for TLR4 Gene

Graphical View of Domain Structure for InterPro Entry

O00206

UniProtKB/Swiss-Prot:

TLR4_HUMAN :
  • The TIR domain mediates interaction with NOX4.
  • Belongs to the Toll-like receptor family.
Domain:
  • The TIR domain mediates interaction with NOX4.
Family:
  • Belongs to the Toll-like receptor family.
genes like me logo Genes that share domains with TLR4: view

Function for TLR4 Gene

Molecular function for TLR4 Gene

GENATLAS Biochemistry:
Drosophila transmembrane receptor Toll homolog 4,specifically expressed in placenta,and on cells of the immune system binding directly to TLR2 and essential component of liposaccharides (LPS) receptor,inducing the LPS signaling pathway
UniProtKB/Swiss-Prot Function:
Cooperates with LY96 and CD14 to mediate the innate immune response to bacterial lipopolysaccharide (LPS). Acts via MYD88, TIRAP and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response (PubMed:9237759, PubMed:10835634). Also involved in LPS-independent inflammatory responses triggered by free fatty acids, such as palmitate, and Ni(2+). Responses triggered by Ni(2+) require non-conserved histidines and are, therefore, species-specific (PubMed:20711192). Both M.tuberculosis HSP70 (dnaK) and HSP65 (groEL-2) act via this protein to stimulate NF-kappa-B expression (PubMed:15809303). In complex with TLR6, promotes sterile inflammation in monocytes/macrophages in response to oxidized low-density lipoprotein (oxLDL) or amyloid-beta 42. In this context, the initial signal is provided by oxLDL- or amyloid-beta 42-binding to CD36. This event induces the formation of a heterodimer of TLR4 and TLR6, which is rapidly internalized and triggers inflammatory response, leading to the NF-kappa-B-dependent production of CXCL1, CXCL2 and CCL9 cytokines, via MYD88 signaling pathway, and CCL5 cytokine, via TICAM1 signaling pathway, as well as IL1B secretion. Binds electronegative LDL (LDL(-)) and mediates the cytokine release induced by LDL(-) (PubMed:23880187). Stimulation of monocytes in vitro with M.tuberculosis PstS1 induces p38 MAPK and ERK1/2 activation primarily via TLR2, but also partially via this receptor (PubMed:16622205).

Gene Ontology (GO) - Molecular Function for TLR4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001530 lipopolysaccharide binding NAS 10835634
GO:0001875 lipopolysaccharide receptor activity IDA 19252480
GO:0004872 receptor activity TAS 10426995
GO:0004888 transmembrane signaling receptor activity NAS,IEA 11970998
GO:0005515 protein binding IPI 11441107
genes like me logo Genes that share ontologies with TLR4: view
genes like me logo Genes that share phenotypes with TLR4: view

Human Phenotype Ontology for TLR4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TLR4 Gene

MGI Knock Outs for TLR4:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for TLR4

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TLR4 Gene

Localization for TLR4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TLR4 Gene

Cell membrane; Single-pass type I membrane protein. Note=Upon complex formation with CD36 and TLR6, internalized through dynamin-dependent endocytosis. {ECO:0000269 PubMed:20037584}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TLR4 gene
Compartment Confidence
plasma membrane 5
endosome 5
nucleus 4
extracellular 3
cytosol 3
cytoskeleton 2
mitochondrion 2
peroxisome 2
endoplasmic reticulum 2
lysosome 2
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for TLR4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 19740627
GO:0005886 plasma membrane TAS,IEA --
GO:0005887 integral component of plasma membrane IDA 15027902
GO:0009897 external side of plasma membrane IDA 16514062
GO:0009986 cell surface IDA 25204797
genes like me logo Genes that share ontologies with TLR4: view

Pathways & Interactions for TLR4 Gene

SuperPathway Contained pathways
1 Activated TLR4 signalling
2 Toll-Like receptor Signaling Pathways
3 Diseases associated with the TLR signaling cascade
4 Toll-like Receptor Signaling Pathway
5 Th17 Differentiation Pathway
genes like me logo Genes that share pathways with TLR4: view

Pathways by source for TLR4 Gene

SIGNOR curated interactions for TLR4 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for TLR4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000187 activation of MAPK activity ISS --
GO:0002218 activation of innate immune response IEA --
GO:0002224 toll-like receptor signaling pathway IBA,TAS --
GO:0002322 B cell proliferation involved in immune response IEA --
GO:0002376 immune system process IEA --
genes like me logo Genes that share ontologies with TLR4: view

Drugs & Compounds for TLR4 Gene

(91) Drugs for TLR4 Gene - From: DrugBank, PharmGKB, ClinicalTrials, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Paclitaxel Approved, Vet_approved Pharma inhibitor, Biomarker, binder Tubulin and Bcl2 inhibitor, Taxanes 2864
Tacrolimus Approved, Investigational Pharma 1102
Naloxone Approved, Vet_approved Pharma Antagonist, Target, inhibitor 252
Methotrexate Approved Pharma Folate antagonist,inhibits DFHR 1551
Pravastatin Approved Pharma Competitive, Inhibitor 150

(50) Additional Compounds for TLR4 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(5) Tocris Compounds for TLR4 Gene

Compound Action Cas Number
CU CPT 22 Selective TLR1/2 inhibitor 1416324-85-0
CU CPT 4a Selective TLR3 inhibitor 1279713-77-7
Pam3CSK4 TLR1/2 agonist; induces cytokine production 112208-00-1
Poly(I:C) TLR3 agonist 24939-03-5
Resiquimod Toll-like receptor 7 (TLR7) agonist 144875-48-9

(10) ApexBio Compounds for TLR4 Gene

Compound Action Cas Number
CU CPT 22 1416324-85-0
CU CPT 4a 1279713-77-7
Pam2CSK4 868247-72-7
Pam2CSK4 Biotin
Pam3CSK4 112208-00-1
Pam3CSK4 Biotin
Poly(I:C) 24939-03-5
RWJ 21757 121288-39-9
TAK-242 TLR 4 signaling inhibitor 243984-11-4
TAK-242 S enantiomer TLR 4 signaling inhibitor 243984-10-3
genes like me logo Genes that share compounds with TLR4: view

Drug Products

Transcripts for TLR4 Gene

Unigene Clusters for TLR4 Gene

Toll-like receptor 4:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for TLR4

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TLR4 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c
SP1: -
SP2: - -
SP3: - - -
SP4:

Relevant External Links for TLR4 Gene

GeneLoc Exon Structure for
TLR4
ECgene alternative splicing isoforms for
TLR4

Expression for TLR4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TLR4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TLR4 Gene

This gene is overexpressed in Whole Blood (x15.3).

Protein differential expression in normal tissues from HIPED for TLR4 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (18.1), Testis (14.9), Liver (13.5), Heart (12.5), and Monocytes (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TLR4 Gene



Protein tissue co-expression partners for TLR4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TLR4 Gene:

TLR4

SOURCE GeneReport for Unigene cluster for TLR4 Gene:

Hs.174312

mRNA Expression by UniProt/SwissProt for TLR4 Gene:

O00206-TLR4_HUMAN
Tissue specificity: Highly expressed in placenta, spleen and peripheral blood leukocytes. Detected in monocytes, macrophages, dendritic cells and several types of T-cells.

Evidence on tissue expression from TISSUES for TLR4 Gene

  • Spleen(4.8)
  • Blood(4.7)
  • Lung(4.7)
  • Nervous system(4.7)
  • Kidney(4.5)
  • Lymph node(3.4)
  • Intestine(3.3)
  • Heart(3.1)
  • Bone marrow(3)
  • Liver(3)
  • Muscle(2.6)
  • Skin(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TLR4 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • face
  • head
  • meninges
  • mouth
  • neck
Thorax:
  • esophagus
Abdomen:
  • intestine
  • large intestine
  • small intestine
  • stomach
Pelvis:
  • penis
  • testicle
  • vagina
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with TLR4: view

Primer Products

Orthologs for TLR4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TLR4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TLR4 34 35
  • 99.76 (n)
dog
(Canis familiaris)
Mammalia TLR4 34 35
  • 82.28 (n)
cow
(Bos Taurus)
Mammalia TLR4 34 35
  • 81.58 (n)
rat
(Rattus norvegicus)
Mammalia Tlr4 34
  • 75.19 (n)
mouse
(Mus musculus)
Mammalia Tlr4 34 16 35
  • 75.16 (n)
oppossum
(Monodelphis domestica)
Mammalia TLR4 35
  • 55 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TLR4 35
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves TLR4 34 35
  • 55.84 (n)
lizard
(Anolis carolinensis)
Reptilia TLR4 35
  • 44 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii tlr4ba 34 35
  • 50.6 (n)
tlr4al 35
  • 38 (a)
OneToMany
tlr4bb 35
  • 38 (a)
OneToMany
Species where no ortholog for TLR4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TLR4 Gene

ENSEMBL:
Gene Tree for TLR4 (if available)
TreeFam:
Gene Tree for TLR4 (if available)

Paralogs for TLR4 Gene

Paralogs for TLR4 Gene

genes like me logo Genes that share paralogs with TLR4: view

Variants for TLR4 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for TLR4 Gene

TLR4_HUMAN-O00206
Allele TLR4*B (Gly-299, Ile-399) is associated with a blunted response to inhaled LPS.

Sequence variations from dbSNP and Humsavar for TLR4 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs4986790 Benign 117,713,024(+) CGATG(A/G)TATTA reference, missense
rs137853920 untested 117,712,970(+) CCTGT(A/G)CAATT reference, missense
rs4986791 untested 117,713,324(+) GACAA(C/T)CAGCC reference, missense
rs1000071461 -- 117,711,708(+) TTAAG(A/T)GTTCT intron-variant
rs1000456320 -- 117,716,773(+) GATAT(A/G)TTTAT utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for TLR4 Gene

Variant ID Type Subtype PubMed ID
nsv7434 OTHER inversion 18451855
nsv831706 CNV gain 17160897

Variation tolerance for TLR4 Gene

Residual Variation Intolerance Score: 87.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.17; 61.75% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TLR4 Gene

Human Gene Mutation Database (HGMD)
TLR4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TLR4

Disorders for TLR4 Gene

MalaCards: The human disease database

(98) MalaCards diseases for TLR4 Gene - From: OMIM, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
macular degeneration, age-related, 10
  • age related macular degeneration 10
colorectal cancer
  • colorectal cancer, somatic
anterior uveitis
  • iridocyclitis
pertussis
  • bordetella infection
pyelonephritis
- elite association - COSMIC cancer census association via MalaCards
Search TLR4 in MalaCards View complete list of genes associated with diseases

Relevant External Links for TLR4

Genetic Association Database (GAD)
TLR4
Human Genome Epidemiology (HuGE) Navigator
TLR4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TLR4
genes like me logo Genes that share disorders with TLR4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TLR4 Gene

Publications for TLR4 Gene

  1. Toll-like receptor 4 variant D299G is associated with susceptibility to age-related macular degeneration. (PMID: 15829498) Zareparsi S. … Swaroop A. (Hum. Mol. Genet. 2005) 3 4 22 46 64
  2. Gene polymorphisms in association with emerging cardiovascular risk markers in adult women. (PMID: 20078877) Fan A.Z. … Mokdad A.H. (BMC Med. Genet. 2010) 3 22 46 64
  3. Toll-like receptor 4 and inducible nitric oxide synthase gene polymorphisms are associated with Type 2 diabetes. (PMID: 19395279) Bagarolli R.A. … Saad S.T. (J. Diabetes Complicat. 2010) 3 22 46 64
  4. A functional nonsynonymous toll-like receptor 4 gene polymorphism is associated with metabolic syndrome, surrogates of insulin resistance, and syndromes of lipid accumulation. (PMID: 19922963) Steinhardt A.P. … Taverna M.J. (Metab. Clin. Exp. 2010) 3 22 46 64
  5. The structural basis of lipopolysaccharide recognition by the TLR4- MD-2 complex. (PMID: 19252480) Park B.S. … Lee J.-O. (Nature 2009) 3 4 22 64

Products for TLR4 Gene

Sources for TLR4 Gene

Content
Loading form....