Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23118
Gene name Gene Name - the full gene name approved by the HGNC.
TGF-beta activated kinase 1 (MAP3K7) binding protein 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TAB2
Synonyms (NCBI Gene) Gene synonyms aliases
CHTD2, MAP3K7IP2, TAB-2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CHTD2
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q25.1
Summary Summary 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 adapto
SNPs SNP 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
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT000289 hsa-miR-155-5p Review 20029422
MIRT000289 hsa-miR-155-5p Luciferase reporter assay, Microarray, qRT-PCR, Western blot 19193853
MIRT005057 hsa-let-7b-5p Microarray 17699775
MIRT000289 hsa-miR-155-5p Luciferase reporter assay, Microarray, qRT-PCR, Western blot 20852130
MIRT007040 hsa-miR-23b-3p Luciferase reporter assay 22660635
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 IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605101 17075 ENSG00000055208
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: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 information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Polyvalvular Heart Disease Syndrome polyvalvular heart disease syndrome GenCC
Diabetic Retinopathy Diabetic Retinopathy GWAS
Breast cancer Breast cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GWAS, CBGDA
Coronary artery disease Coronary artery disease GWAS
Associations from Text Mining
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