TIRAP (TIR domain containing adaptor protein)

2007-03-01  

Identity

HGNC
LOCATION
11q24.2
LOCUSID
ALIAS
BACTS1,Mal,MyD88-2,wyatt
FUSION GENES

Other Information

Locus ID:

NCBI: 114609
MIM: 606252
HGNC: 17192
Ensembl: ENSG00000150455

Variants:

dbSNP: 114609
ClinVar: 114609
TCGA: ENSG00000150455
COSMIC: TIRAP

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000150455ENST00000392678P58753
ENSG00000150455ENST00000392679P58753
ENSG00000150455ENST00000392679A0A024R3M4
ENSG00000150455ENST00000392680P58753
ENSG00000150455ENST00000392680A0A024R3M4
ENSG00000150455ENST00000479770P58753
ENSG00000150455ENST00000479770A0A024R3M4
ENSG00000150455ENST00000488598F5H2K1

Expression (GTEx)

0
1
2
3
4
5
6
7

Pathways

PathwaySourceExternal ID
Toll-like receptor signaling pathwayKEGGko04620
Toll-like receptor signaling pathwayKEGGhsa04620
TuberculosisKEGGko05152
TuberculosisKEGGhsa05152
PertussisKEGGko05133
PertussisKEGGhsa05133
NF-kappa B signaling pathwayKEGGhsa04064
NF-kappa B signaling pathwayKEGGko04064
Hepatitis BKEGGhsa05161
DiseaseREACTOMER-HSA-1643685
Diseases of Immune SystemREACTOMER-HSA-5260271
Diseases associated with the TLR signaling cascadeREACTOMER-HSA-5602358
IRAK4 deficiency (TLR2/4)REACTOMER-HSA-5603041
MyD88 deficiency (TLR2/4)REACTOMER-HSA-5602498
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
Class I MHC mediated antigen processing & presentationREACTOMER-HSA-983169
Antigen processing-Cross presentationREACTOMER-HSA-1236975
ER-Phagosome pathwayREACTOMER-HSA-1236974
Innate Immune SystemREACTOMER-HSA-168249
Toll-Like Receptors CascadesREACTOMER-HSA-168898
Toll Like Receptor 4 (TLR4) CascadeREACTOMER-HSA-166016
Activated TLR4 signallingREACTOMER-HSA-166054
MyD88:Mal cascade initiated on plasma membraneREACTOMER-HSA-166058
Toll Like Receptor 2 (TLR2) CascadeREACTOMER-HSA-181438
Toll Like Receptor TLR1:TLR2 CascadeREACTOMER-HSA-168179
Toll Like Receptor TLR6:TLR2 CascadeREACTOMER-HSA-168188

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA166048654ustekinumabChemicalClinicalAnnotationassociatedPD28696418
PA445451PsoriasisDiseaseClinicalAnnotationassociatedPD28696418

References

Pubmed IDYearTitleCitations
167511032006Phosphoinositide-mediated adaptor recruitment controls Toll-like receptor signaling.277
183694802008The influence of host and bacterial genotype on the development of disseminated disease with Mycobacterium tuberculosis.186
173228852007A Mal functional variant is associated with protection against invasive pneumococcal disease, bacteremia, malaria and tuberculosis.144
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
151238412004Requirement for a conserved Toll/interleukin-1 resistance domain protein in the Caenorhabditis elegans immune response.80
191204902009Systems biology of innate immunity.74
146308162004Distinct pathways of LPS-induced NF-kappa B activation and cytokine production in human myeloid and nonmyeloid cells defined by selective utilization of MyD88 and Mal/TIRAP.65
164393612006MyD88 adapter-like (Mal) is phosphorylated by Bruton's tyrosine kinase during TLR2 and TLR4 signal transduction.65
195434012009Toll-like receptor polymorphisms and susceptibility to urinary tract infections in adult women.59
195924972009MyD88 adapter-like (Mal)/TIRAP interaction with TRAF6 is critical for TLR2- and TLR4-mediated NF-kappaB proinflammatory responses.55

Citation

Dessen P

TIRAP (TIR domain containing adaptor protein)

Atlas Genet Cytogenet Oncol Haematol. 2007-03-01

Online version: http://atlasgeneticsoncology.org/gene/42972/tirap