TAB2 (TGF-beta activated kinase 1 (MAP3K7) binding protein 2)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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23118 |
Gene nameGene Name - the full gene name approved by the HGNC.
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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.
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TAB2 |
SynonymsGene synonyms aliases
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CHTD2, MAP3K7IP2, TAB-2 |
ChromosomeChromosome number
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6 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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6q25.1 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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 |
rs1057518015 |
C>T |
Likely-pathogenic |
Genic downstream transcript variant, stop gained, coding sequence variant |
rs1057518422 |
C>T |
Likely-pathogenic |
Genic downstream transcript variant, stop gained, coding sequence variant |
rs1057518437 |
C>A |
Pathogenic |
Genic downstream transcript variant, stop gained, coding sequence variant |
rs1064795547 |
CA>- |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
rs1479104927 |
C>G,T |
Pathogenic-likely-pathogenic |
Genic downstream transcript variant, stop gained, missense variant, coding sequence variant |
rs1554263268 |
C>- |
Likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
rs1554263321 |
C>T |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, stop gained |
rs1562443558 |
T>A |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, stop gained |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0000187 |
Process |
Activation of MAPK activity |
TAS |
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GO:0002223 |
Process |
Stimulatory C-type lectin receptor signaling pathway |
TAS |
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GO:0002755 |
Process |
MyD88-dependent toll-like receptor signaling pathway |
TAS |
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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 |
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GO:0005829 |
Component |
Cytosol |
TAS |
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GO:0005886 |
Component |
Plasma membrane |
TAS |
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GO:0007249 |
Process |
I-kappaB kinase/NF-kappaB signaling |
TAS |
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GO:0007254 |
Process |
JNK cascade |
TAS |
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GO:0007507 |
Process |
Heart development |
IMP |
20493459 |
GO:0010008 |
Component |
Endosome membrane |
TAS |
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GO:0010507 |
Process |
Negative regulation of autophagy |
TAS |
21976705 |
GO:0032496 |
Process |
Response to lipopolysaccharide |
IDA |
19193853 |
GO:0038095 |
Process |
Fc-epsilon receptor signaling pathway |
TAS |
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GO:0043123 |
Process |
Positive regulation of I-kappaB kinase/NF-kappaB signaling |
IBA |
21873635 |
GO:0043123 |
Process |
Positive regulation of I-kappaB kinase/NF-kappaB signaling |
IEP |
12761501 |
GO:0043130 |
Function |
Ubiquitin binding |
IEA |
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GO:0045860 |
Process |
Positive regulation of protein kinase activity |
IBA |
21873635 |
GO:0045860 |
Process |
Positive regulation of protein kinase activity |
IDA |
11460167 |
GO:0046872 |
Function |
Metal ion binding |
IEA |
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GO:0050852 |
Process |
T cell receptor signaling pathway |
TAS |
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GO:0051092 |
Process |
Positive regulation of NF-kappaB transcription factor activity |
TAS |
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GO:0070423 |
Process |
Nucleotide-binding oligomerization domain containing signaling pathway |
TAS |
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GO:0070498 |
Process |
Interleukin-1-mediated signaling pathway |
TAS |
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GO:0070530 |
Function |
K63-linked polyubiquitin modification-dependent protein binding |
IBA |
21873635 |
GO:0070530 |
Function |
K63-linked polyubiquitin modification-dependent protein binding |
IDA |
19935683 |
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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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
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Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF02845 |
CUE |
9 → 50 |
CUE domain |
Domain |
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Sequence |
MAQGSHQIDFQVLHDLRQKFPEVPEVVVSRCMLQNNNNLDACCAVLSQESTRYLYGEGDL NFSDDSGISGLRNHMTSLNLDLQSQNIYHHGREGSRMNGSRTLTHSISDGQLQGGQSNSE LFQQEPQTAPAQVPQGFNVFGMSSSSGASNSAPHLGFHLGSKGTSSLSQQTPRFNPIMVT LAPNIQTGRNTPTSLHIHGVPPPVLNSPQGNSIYIRPYITTPGGTTRQTQQHSGWVSQFN PMNPQQVYQPSQPGPWTTCPASNPLSHTSSQQPNQQGHQTSHVYMPISSPTTSQPPTIHS SGSSQSSAHSQYNIQNISTGPRKNQIEIKLEPPQRNNSSKLRSSGPRTSSTSSSVNSQTL NRNQPTVYIAASPPNTDELMSRSQPKVYISANAATGDEQVMRNQPTLFISTNSGASAASR NMSGQVSMGPAFIHHHPPKSRAIGNNSATSPRVVVTQPNTKYTFKITVSPNKPPAVSPGV VSPTFELTNLLNHPDHYVETENIQHLTDPTLAHVDRISETRKLSMGSDDAAYTQALLVHQ KARMERLQRELEIQKKKLDKLKSEVNEMENNLTRRRLKRSNSISQIPSLEEMQQLRSCNR QLQIDIDCLTKEIDLFQARGPHFNPSAIHNFYDNIGFVGPVPPKPKDQRSIIKTPKTQDT EDDEGAQWNCTACTFLNHPALIRCEQCEMPRHF
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Sequence length |
693 |
Interactions |
View interactions |
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