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TAB2 (TGF-beta activated kinase 1 (MAP3K7) binding protein 2)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23118
Gene nameGene Name - the full gene name approved by the HGNC.
TGF-beta activated kinase 1 (MAP3K7) binding protein 2
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
TAB2
SynonymsGene synonyms aliases
CHTD2, MAP3K7IP2, TAB-2
ChromosomeChromosome number
6
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q25.1
SummarySummary of gene provided in NCBI Entrez Gene.
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]
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs143213478 A>G Conflicting-interpretations-of-pathogenicity Genic downstream transcript variant, coding sequence variant, synonymous variant
rs267607100 C>A Pathogenic Coding sequence variant, missense variant, genic downstream transcript variant
rs267607101 C>T Pathogenic Coding sequence variant, missense variant, genic downstream transcript variant
rs886041646 C>- Pathogenic Genic downstream transcript variant, coding sequence variant, stop gained
rs1057517934 C>T Likely-pathogenic Genic downstream transcript variant, stop gained, coding sequence variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT000289 hsa-miR-155-5p Luciferase reporter assay, Microarray, qRT-PCR, Western blot 19193853
MIRT000289 hsa-miR-155-5p Luciferase reporter assay, Microarray, qRT-PCR, Western blot 20852130
MIRT000289 hsa-miR-155-5p Luciferase reporter assay 23449975
MIRT000289 hsa-miR-155-5p Reporter assay 20680360
MIRT000289 hsa-miR-155-5p Reporter assay;Other 20584899
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000187 Process Activation of MAPK activity TAS
GO:0002223 Process Stimulatory C-type lectin receptor signaling pathway TAS
GO:0002755 Process MyD88-dependent toll-like receptor signaling pathway TAS
GO:0005515 Function Protein binding IPI 11460167, 11518704, 14743216, 16845370, 17158449, 17449468, 19026643, 19675569, 21512573, 21903422, 21988832, 22081109, 22158122, 22904686, 25260751, 27426733, 32296183
GO:0005654 Component Nucleoplasm TAS
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q9NYJ8
Protein name TGF-beta-activated kinase 1 and MAP3K7-binding protein 2 (Mitogen-activated protein kinase kinase kinase 7-interacting protein 2) (TAK1-binding protein 2) (TAB-2) (TGF-beta-activated kinase 1-binding protein 2)
Protein function Adapter required to activate the JNK and NF-kappa-B signaling pathways through the specific recognition of 'Lys-63'-linked polyubiquitin chains by its RanBP2-type zinc finger (NZF) (PubMed:10882101, PubMed:11460167, PubMed:15327770, PubMed:22158122). Acts as an adapter linking MAP3K7/TAK1 and TRAF6 to 'Lys-63'-linked polyubiquitin chains (PubMed:10882101, PubMed:11460167, PubMed:15327770, PubMed:22158122). The RanBP2-type zinc finger (NZF) specifically recognizes Lys-63'-linked polyubiquitin chains unanchored or anchored to the substrate proteins such as RIPK1/RIP1: this acts as a scaffold to organize a large signaling complex to promote autophosphorylation of MAP3K7/TAK1, and subsequent activation of I-kappa-B-kinase (IKK) core complex by MAP3K7/TAK1 (PubMed:15327770, PubMed:22158122). Regulates the IL1-mediated translocation of NCOR1 out of the nucleus (By similarity). Involved in heart development (PubMed:20493459).
PDB 2DAE , 2WWZ , 2WX0 , 2WX1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02845 CUE
9 50
CUE domain
Domain
Sequence
MAQGSHQIDFQVLHDLRQKFPEVPEVVVSRCMLQNNNNLDACCAVLSQESTRYLYGEGDL
NFSDDSGISGLRNHMTSLNLDLQSQNIYHHGREGSRMNGSRTLTHSISDGQLQGGQSNSE
LFQQEPQTAPAQVPQGFNVFGMSSSSGASNSAPHLGFHLGSKGTSSLSQQTPRFNPIMVT
LAPNIQTGRNTPTSLHIHGVPPPVLNSPQGNSIYIRPYITTPGGTTRQTQQHSGWVSQFN
PMNPQQVYQPSQPGPWTTCPASNPLSHTSSQQPNQQGHQTSHVYMPISSPTTSQPPTIHS
SGSSQSSAHSQYNIQNISTGPRKNQIEIKLEPPQRNNSSKLRSSGPRTSSTSSSVNSQTL
NRNQPTVYIAASPPNTDELMSRSQPKVYISANAATGDEQVMRNQPTLFISTNSGASAASR
NMSGQVSMGPAFIHHHPPKSRAIGNNSATSPRVVVTQPNTKYTFKITVSPNKPPAVSPGV
VSPTFELTNLLNHPDHYVETENIQHLTDPTLAHVDRISETRKLSMGSDDAAYTQALLVHQ
KARMERLQRELEIQKKKLDKLKSEVNEMENNLTRRRLKRSNSISQIPSLEEMQQLRSCNR
QLQIDIDCLTKEIDLFQARGPHFNPSAIHNFYDNIGFVGPVPPKPKDQRSIIKTPKTQDT
EDDEGAQWNCTACTFLNHPALIRCEQCEMPRHF
Sequence length 693
Interactions View interactions

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