Human Gene TAB2 (ENST00000367456.5) from GENCODE V41
Description: Homo sapiens TGF-beta activated kinase 1 (MAP3K7) binding protein 2 (TAB2), transcript variant 1, mRNA. (from RefSeq NM_015093) RefSeq Summary (NM_015093): The protein encoded by this gene is an activator of MAP3K7/TAK1, which is required for for the IL-1 induced activation of nuclear factor kappaB and MAPK8/JNK. This protein forms a kinase complex with TRAF6, MAP3K7 and TAB1, and it thus serves as an adaptor that links MAP3K7 and TRAF6. This protein, along with TAB1 and MAP3K7, also participates in the signal transduction induced by TNFSF11/RANKl through the activation of the receptor activator of NF-kappaB (TNFRSF11A/RANK), which may regulate the development and function of osteoclasts. Studies of the related mouse protein indicate that it functions to protect against liver damage caused by chemical stressors. Mutations in this gene cause congenital heart defects, multiple types, 2 (CHTD2). Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]. Gencode Transcript: ENST00000367456.5 Gencode Gene: ENSG00000055208.20 Transcript (Including UTRs) Position: hg38 chr6:149,321,052-149,411,613 Size: 90,562 Total Exon Count: 8 Strand: + Coding Region Position: hg38 chr6:149,369,998-149,409,719 Size: 39,722 Coding Exon Count: 6
ID:TAB2_HUMAN DESCRIPTION: RecName: Full=TGF-beta-activated kinase 1 and MAP3K7-binding protein 2; AltName: Full=Mitogen-activated protein kinase kinase kinase 7-interacting protein 2; AltName: Full=TAK1-binding protein 2; Short=TAB-2; AltName: Full=TGF-beta-activated kinase 1-binding protein 2; 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. SUBUNIT: Interacts with MAP3K7 and TRAF6. Identified in the TRIKA2 complex composed of MAP3K7, TAB1 and TAB2. Binds 'Lys-63'-linked polyubiquitin chains. Interacts with NCOR1 and HDAC3 to form a ternary complex. Interacts (via C-terminal) with NUMBL (via PTB domain). Interacts (via the C-terminus) with WDR34 (via WD domains). Interacts with RBCK1. INTERACTION: O43318:MAP3K7; NbExp=2; IntAct=EBI-358708, EBI-358684; Q05516:ZBTB16; NbExp=3; IntAct=EBI-358708, EBI-711925; SUBCELLULAR LOCATION: Membrane; Peripheral membrane protein. Cytoplasm, cytosol. Note=Following IL1 stimulation, translocation occurs from the membrane to cytosol. 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. DOMAIN: The RanBP2-type zinc finger (NZF) mediates binding to two consecutive 'Lys-63'-linked ubiquitins (By similarity). PTM: Ubiquitinated; following IL1 stimulation or TRAF6 overexpression. Ubiquitination involves RBCK1 leading to proteasomal degradation. PTM: Phosphorylated (Probable). DISEASE: Defects in TAB2 are the cause of congenital heart disease non-syndromic type 2 (CHTD2) [MIM:612863]. It is a disease characterized by congenital developmental abnormalities involving structures of the heart. Clinical features include left ventricular outflow tract obstruction, subaortic stenosis, residual aortic regurgitation, atrial fibrillation, bicuspid aortic valve and aortic dilation. Note=A chromosomal aberration involving TAB2 has been found in a family with congenital heart disease. Translocation t(2;6)(q21;q25). SIMILARITY: Contains 1 CUE domain. SIMILARITY: Contains 1 RanBP2-type zinc finger. SEQUENCE CAUTION: Sequence=BAA34453.2; Type=Erroneous initiation;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9NYJ8
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.