Gene Gene information from NCBI Gene database.
Entrez ID 23118
Gene name TGF-beta activated kinase 1 (MAP3K7) binding protein 2
Gene symbol TAB2
Synonyms (NCBI Gene)
CHTD2MAP3K7IP2TAB-2
Chromosome 6
Chromosome location 6q25.1
Summary 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 adapto
SNPs SNP information provided by dbSNP.
13
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
miRNA miRNA information provided by mirtarbase database.
401
miRTarBase ID miRNA Experiments Reference
MIRT000289 hsa-miR-155-5p Review 20029422
MIRT000289 hsa-miR-155-5p Luciferase reporter assayMicroarrayqRT-PCRWestern blot 19193853
MIRT005057 hsa-let-7b-5p Microarray 17699775
MIRT000289 hsa-miR-155-5p Luciferase reporter assayMicroarrayqRT-PCRWestern blot 20852130
MIRT007040 hsa-miR-23b-3p Luciferase reporter assay 22660635
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
43
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 11460167, 11518704, 14743216, 16845370, 17158449, 17449468, 19026643, 19675569, 21512573, 21903422, 21988832, 22081109, 22158122, 22904686, 25260751, 27426733, 27880917, 32296183, 32707033, 33961781, 35271311, 36179048
GO:0005654 Component Nucleoplasm IEA
GO:0005654 Component Nucleoplasm TAS
GO:0005737 Component Cytoplasm IDA 10882101, 36681779
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605101 17075 ENSG00000055208
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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:22158
PDB 2DAE , 2WWZ , 2WX0 , 2WX1 , 9AVT , 9AVW
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02845 CUE 9 50 CUE domain Domain
Tissue specificity 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:0000269|PubMed:10882101
Sequence
MAQGSHQIDFQVLHDLRQKFPEVPEVVVSRCMLQNNNNLDACCAVLSQESTRYLYGEGDL
NFSDDSGISGLRNHMTSLNLDLQSQNIYHHGREGSRMNGSRTLTHSISDGQLQGGQSNSE
LFQQEPQTAPAQVPQGFNVFGMSSSSGASNSAPHLGFHLGSKGTSSLSQQTPRFNPIMVT
LAPNIQTGRNTPTSLHIHGVPPPVLNSPQGNSIYIRPYITTPGGTTRQTQQHSGWVSQFN
PMNPQQVYQPSQPGPWTTCPASNPLSHTSSQQPNQQGHQTSHVYMPISSPTTSQPPTIHS
SGSSQSSAHSQYNIQNISTGPRKNQIEIKLEPPQRNNSSKLRSSGPRTSSTSSSVNSQTL
NRNQPTVYIAASPPNTDELMSRSQPKVYISANAATGDEQVMRNQPTLFISTNSGASAASR
NMSGQVSMGPAFIHHHPPKSRAIGNNSATSPRVVVTQPNTKYTFKITVSPNKPPAVSPGV
VSPTFELTNLLNHPDHYVETENIQHLTDPTLAHVDRISETRKLSMGSDDAAYTQALLVHQ
KARMERLQRELEIQKKKLDKLKSEVNEMENNLTRRRLKRSNSISQIPSLEEMQQLRSCNR
QLQIDIDCLTKEIDLFQARGPHFNPSAIHNFYDNIGFVGPVPPKPKDQRSIIKTPKTQDT
EDDEGAQWNCTACTFLNHPALIRCEQCEMPRHF
Sequence length 693
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
87
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Atrial septal defect, ostium secundum type Likely pathogenic; Pathogenic rs1057518422 RCV000626800
Bicuspid aortic valve Likely pathogenic; Pathogenic rs1057518422 RCV000626800
Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation Likely pathogenic; Pathogenic rs1479104927 RCV006257313
Congenital heart defects, multiple types, 2 Likely pathogenic; Pathogenic rs1782223593, rs2114883576, rs2114885325, rs2114887873, rs2114887942, rs2114886711, rs1562443558, rs2483386818, rs2483397661, rs267607101, rs2483397256, rs2483386092, rs2483392655, rs577148408, rs2483399715
View all (16 more)
RCV001331939
RCV001353220
RCV001783844
RCV003336436
RCV003314027
RCV002244192
RCV002246757
RCV002287632
RCV002471618
RCV000005521
RCV003140525
RCV003148138
RCV003150923
RCV003153088
RCV003233379
RCV003234939
RCV003388268
RCV003388448
RCV003883376
RCV003989100
RCV003993708
RCV004594990
RCV004595254
RCV004595256
RCV005410901
RCV000578295
RCV000578383
RCV000680117
RCV000680116
RCV001251117
RCV001254136
RCV001291526
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cholangiocarcinoma Benign rs6916134 RCV005925185
Familial cancer of breast Conflicting classifications of pathogenicity rs143213478 RCV005907621
Gastric cancer Benign rs6916134 RCV005925184
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acute Kidney Injury Associate 37026010
Acute Lung Injury Associate 33174006
Adrenal Insufficiency Associate 36000780
Arthritis Psoriatic Inhibit 27706699
Bicuspid Aortic Valve Disease Associate 32183715
Breast Neoplasms Associate 22249258, 22383897, 26036842, 27992601, 30285756
Carcinoma Hepatocellular Associate 26875893
Carcinoma Ovarian Epithelial Associate 31485280
Cardiomyopathies Associate 34456334, 34741306, 36000780
Cardiomyopathy Dilated Associate 39905300