InnateDB Protein
|
IDBP-584605.3
|
Last Modified
|
2014-10-13 [Report errors or provide feedback]
|
Gene Symbol
|
TAB2
|
Protein Name
|
TGF-beta activated kinase 1/MAP3K7 binding protein 2
|
Synonyms
|
|
Species
|
Homo sapiens
|
Ensembl Protein
|
ENSP00000432709
|
InnateDB Gene
|
IDBG-97690 (TAB2)
|
Protein Structure
|
|
Function |
Adapter linking MAP3K7/TAK1 and TRAF6. Promotes MAP3K7 activation in the IL1 signaling pathway. The binding of 'Lys-63'- linked polyubiquitin chains to TAB2 promotes autophosphorylation of MAP3K7 at 'Thr-187'. Involved in heart development. {ECO:0000269PubMed:10882101, ECO:0000269PubMed:11460167, ECO:0000269PubMed:20493459}.
|
Subcellular Localization |
Membrane {ECO:0000269PubMed:10882101}; Peripheral membrane protein {ECO:0000269PubMed:10882101}. Cytoplasm, cytosol {ECO:0000269PubMed:10882101}. Note=Following IL1 stimulation, translocation occurs from the membrane to cytosol.
|
Disease Associations |
Congenital heart defects, multiple types, 2 (CHTD2) [MIM:614980]: A disease characterized by congenital developmental abnormalities involving structures of the heart. CHTD2 patients have left ventricular outflow tract obstruction, subaortic stenosis, residual aortic regurgitation, atrial fibrillation, bicuspid aortic valve and aortic dilation. {ECO:0000269PubMed:20493459}. Note=The disease is caused by mutations affecting the gene represented in this entry. A chromosomal aberration involving TAB2 has been found in a family with congenital heart disease. Translocation t(2;6)(q21;q25).
|
Tissue Specificity |
Widely expressed. In the embryo, expressed in the ventricular trabeculae, endothelial cells of the conotruncal cushions of the outflow tract and in the endothelial cells lining the developing aortic valves. {ECO:0000269PubMed:10882101, ECO:0000269PubMed:20493459}.
|
Comments |
|
Number of Interactions
|
This gene and/or its encoded proteins are associated with 131 experimentally validated interaction(s) in this database.
They are also associated with 8 interaction(s) predicted by orthology.
Experimentally validated |
Total |
131
[view]
|
Protein-Protein |
128
[view]
|
Protein-DNA |
2
[view]
|
Protein-RNA |
0
|
DNA-DNA |
0
|
RNA-RNA |
1
[view]
|
DNA-RNA |
0
|
|
Predicted by orthology |
Total |
8 [view]
|
|
|
Molecular Function |
|
Biological Process |
GO:0000187
|
activation of MAPK activity
|
GO:0002224
|
toll-like receptor signaling pathway
|
GO:0002755
|
MyD88-dependent toll-like receptor signaling pathway
|
GO:0002756
|
MyD88-independent toll-like receptor signaling pathway
|
GO:0007249
|
I-kappaB kinase/NF-kappaB signaling
|
GO:0007254
|
JNK cascade
|
GO:0007507
|
heart development
|
GO:0034134
|
toll-like receptor 2 signaling pathway
|
GO:0034138
|
toll-like receptor 3 signaling pathway
|
GO:0034142
|
toll-like receptor 4 signaling pathway
|
GO:0034146
|
toll-like receptor 5 signaling pathway
|
GO:0034162
|
toll-like receptor 9 signaling pathway
|
GO:0034166
|
toll-like receptor 10 signaling pathway
|
GO:0035666
|
TRIF-dependent toll-like receptor signaling pathway
|
GO:0035872
|
nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway
|
GO:0038095
|
Fc-epsilon receptor signaling pathway
|
GO:0038123
|
toll-like receptor TLR1:TLR2 signaling pathway
|
GO:0038124
|
toll-like receptor TLR6:TLR2 signaling pathway
|
GO:0043123
|
positive regulation of I-kappaB kinase/NF-kappaB signaling
|
GO:0045087
|
innate immune response (InnateDB)
|
GO:0045860
|
positive regulation of protein kinase activity
|
GO:0050852
|
T cell receptor signaling pathway
|
GO:0051092
|
positive regulation of NF-kappaB transcription factor activity
|
GO:0051403
|
stress-activated MAPK cascade
|
GO:0070423
|
nucleotide-binding oligomerization domain containing signaling pathway
|
|
Cellular Component |
|
PDB ID |
|
InterPro |
IPR003892
Ubiquitin system component Cue
|
PFAM |
PF02845
|
PRINTS |
|
PIRSF |
|
SMART |
SM00546
|
TIGRFAMs |
|
Modification |
|
SwissProt |
Q9NYJ8
|
PhosphoSite |
PhosphoSite-Q9NYJ8
|
TrEMBL |
U3KQR0
|
UniProt Splice Variant |
|
Entrez Gene |
23118
|
UniGene |
Hs.712993
|
RefSeq |
|
HUGO |
HGNC:17075
|
OMIM |
605101
|
CCDS |
|
HPRD |
05483
|
IMGT |
|
EMBL |
AB018276
AF241230
AK315038
AL031056
AL031133
AL117407
AL138727
AL139103
BC035910
CH471051
CR457387
DQ314877
|
GenPept |
AAF67176
AAH35910
ABC40736
BAA34453
BAG37521
CAB55907
CAG33668
CAI19581
CAI20026
CAI20971
EAW47805
EAW47806
EAW47807
|
|
|