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Aliases for TAB2 Gene

Aliases for TAB2 Gene

  • TGF-Beta Activated Kinase 1/MAP3K7 Binding Protein 2 2 3 5
  • Mitogen-Activated Protein Kinase Kinase Kinase 7-Interacting Protein 2 3 4
  • TAK1-Binding Protein 2 3 4
  • MAP3K7IP2 3 4
  • TAB-2 3 4
  • Mitogen-Activated Protein Kinase Kinase Kinase 7 Interacting Protein 2 2
  • TGF-Beta-Activated Kinase 1 And MAP3K7-Binding Protein 2 3
  • TGF-Beta-Activated Kinase 1-Binding Protein 2 4
  • KIAA0733 4
  • CHTD2 3

External Ids for TAB2 Gene

Previous HGNC Symbols for TAB2 Gene

  • MAP3K7IP2

Previous GeneCards Identifiers for TAB2 Gene

  • GC06P149639
  • GC06P147206
  • GC06P149540
  • GC06P149541
  • GC06P149543

Summaries for TAB2 Gene

Entrez Gene Summary for TAB2 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]

GeneCards Summary for TAB2 Gene

TAB2 (TGF-Beta Activated Kinase 1/MAP3K7 Binding Protein 2) is a Protein Coding gene. Diseases associated with TAB2 include Congenital Heart Defects, Multiple Types, 2 and Type 1 Diabetes Mellitus 5. Among its related pathways are RANK Signaling in Osteoclasts and Bacterial infections in CF airways. Gene Ontology (GO) annotations related to this gene include K63-linked polyubiquitin modification-dependent protein binding. An important paralog of this gene is TAB3.

UniProtKB/Swiss-Prot for TAB2 Gene

  • 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.

Gene Wiki entry for TAB2 Gene

Additional gene information for TAB2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TAB2 Gene

Genomics for TAB2 Gene

GeneHancer (GH) Regulatory Elements for TAB2 Gene

Promoters and enhancers for TAB2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06I149342 Promoter/Enhancer 1.3 EPDnew ENCODE dbSUPER 550.1 +124.6 124576 0.8 ZBTB6 ZNF189 IKZF1 ZNF600 ATF7 IKZF2 BCLAF1 SPI1 TAB2 TAB2-AS1 FABP12P1 GC06P149383 GC06P149237
GH06I149216 Enhancer 0.2 FANTOM5 550.8 -1.4 -1362 0.2 ENSG00000228408 TAB2 TAB2-AS1 PIR33930
GH06I149127 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 26.6 -88.5 -88482 4.2 HNRNPUL1 PKNOX1 ATF1 ARNT IRF4 TCF12 GATA2 FOS ATF7 RUNX3 TAB2 KATNA1 LATS1 NUP43 ENSG00000231760 ENSG00000228408 TAB2-AS1 PPIL4 GINM1 ZC3H12D
GH06I149147 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 18.4 -69.6 -69573 2.2 MEIS2 LEF1 PKNOX1 BMI1 BATF CTBP1 FOXK2 ATF7 IKZF2 RUNX3 TAB2 ENSG00000228408 TAB2-AS1 ZC3H12D PPIL4 PIR33930
GH06I149333 Enhancer 1.2 Ensembl ENCODE dbSUPER 18.1 +118.1 118075 4.4 PKNOX1 INSM2 BATF ZEB1 ZNF121 ZNF366 FOS IKZF2 RUNX3 EGR2 TAB2 SUMO4 LOC105378047 TAB2-AS1 ENSG00000231760 FABP12P1 GC06P149383 GC06P149237
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TAB2 on UCSC Golden Path with GeneCards custom track

Genomic Locations for TAB2 Gene

Genomic Locations for TAB2 Gene
193,690 bases
Plus strand

Genomic View for TAB2 Gene

Genes around TAB2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TAB2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TAB2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TAB2 Gene

Proteins for TAB2 Gene

  • Protein details for TAB2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    TGF-beta-activated kinase 1 and MAP3K7-binding protein 2
    Protein Accession:
    Secondary Accessions:
    • B2RCC4
    • E1P5A0
    • O94838
    • Q6I9W8
    • Q76N06
    • Q9UFP7

    Protein attributes for TAB2 Gene

    693 amino acids
    Molecular mass:
    76494 Da
    Quaternary structure:
    • 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. Interacts with TRIM5.
    • Sequence=BAA34453.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TAB2 Gene

    Alternative splice isoforms for TAB2 Gene


neXtProt entry for TAB2 Gene

Post-translational modifications for TAB2 Gene

  • Phosphorylated.
  • Ubiquitinated; following IL1 stimulation or TRAF6 overexpression. Ubiquitination involves RBCK1 leading to proteasomal degradation.
  • Ubiquitination at posLast=656656

No data available for DME Specific Peptides for TAB2 Gene

Domains & Families for TAB2 Gene

Gene Families for TAB2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for TAB2 Gene

Graphical View of Domain Structure for InterPro Entry



  • The RanBP2-type zinc finger (NZF) mediates binding to two consecutive Lys-63-linked ubiquitins.
  • The RanBP2-type zinc finger (NZF) mediates binding to two consecutive Lys-63-linked ubiquitins.
genes like me logo Genes that share domains with TAB2: view

Function for TAB2 Gene

Molecular function for TAB2 Gene

UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for TAB2 Gene

Gene Ontology (GO) - Molecular Function for TAB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11460167
GO:0046872 metal ion binding IEA --
GO:0070530 K63-linked polyubiquitin modification-dependent protein binding IDA 19935683
genes like me logo Genes that share ontologies with TAB2: view
genes like me logo Genes that share phenotypes with TAB2: view

Human Phenotype Ontology for TAB2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TAB2 Gene

MGI Knock Outs for TAB2:

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TAB2 Gene

Localization for TAB2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TAB2 Gene

Membrane; Peripheral membrane protein. Cytoplasm, cytosol. Note=Following IL1 stimulation, translocation occurs from the membrane to cytosol.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TAB2 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 4
endosome 4
extracellular 2
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TAB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
GO:0010008 endosome membrane TAS --
genes like me logo Genes that share ontologies with TAB2: view

Pathways & Interactions for TAB2 Gene

SuperPathway Contained pathways
1 Activated TLR4 signalling
2 Toll-like receptor signaling pathway
3 IL-1 signaling pathway
4 Bacterial infections in CF airways
5 IL-1 Family Signaling Pathways
genes like me logo Genes that share pathways with TAB2: view

SIGNOR curated interactions for TAB2 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for TAB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000187 activation of MAPK activity TAS --
GO:0002223 stimulatory C-type lectin receptor signaling pathway TAS --
GO:0002755 MyD88-dependent toll-like receptor signaling pathway TAS --
GO:0002756 MyD88-independent toll-like receptor signaling pathway TAS --
GO:0007249 I-kappaB kinase/NF-kappaB signaling TAS --
genes like me logo Genes that share ontologies with TAB2: view

Drugs & Compounds for TAB2 Gene

(1) Drugs for TAB2 Gene - From: ApexBio

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NG25 Pharma 0

(2) Additional Compounds for TAB2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for TAB2 Gene

Compound Action Cas Number
NG25 1315355-93-1
genes like me logo Genes that share compounds with TAB2: view

Drug Products

Transcripts for TAB2 Gene

Unigene Clusters for TAB2 Gene

TGF-beta activated kinase 1/MAP3K7 binding protein 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TAB2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10
SP1: -
SP3: -

Relevant External Links for TAB2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TAB2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TAB2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TAB2 Gene

This gene is overexpressed in Esophagus (42.3), Urine (15.8), and Stomach (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TAB2 Gene

NURSA nuclear receptor signaling pathways regulating expression of TAB2 Gene:


SOURCE GeneReport for Unigene cluster for TAB2 Gene:


mRNA Expression by UniProt/SwissProt for TAB2 Gene:

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.

Evidence on tissue expression from TISSUES for TAB2 Gene

  • Nervous system(4.5)
  • Liver(4.4)
  • Kidney(4.3)
  • Eye(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TAB2 Gene

Germ Layers:
  • mesoderm
  • cardiovascular
Head and neck:
  • ear
  • aorta
  • heart
  • heart valve
  • blood
  • blood vessel
genes like me logo Genes that share expression patterns with TAB2: view

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for TAB2 Gene

Orthologs for TAB2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TAB2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia TAB2 33 34
  • 99.71 (n)
(Canis familiaris)
Mammalia TAB2 33 34
  • 95.05 (n)
(Bos Taurus)
Mammalia TAB2 33 34
  • 94.56 (n)
(Monodelphis domestica)
Mammalia TAB2 34
  • 93 (a)
(Mus musculus)
Mammalia Tab2 33 16 34
  • 91.44 (n)
(Rattus norvegicus)
Mammalia Tab2 33
  • 90.11 (n)
(Ornithorhynchus anatinus)
Mammalia TAB2 34
  • 86 (a)
(Gallus gallus)
Aves TAB2 33 34
  • 85.31 (n)
(Anolis carolinensis)
Reptilia TAB2 34
  • 85 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia tab2 33
  • 76.71 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.17253 33
(Danio rerio)
Actinopterygii tab2 34
  • 54 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10639 34
  • 31 (a)
Species where no ortholog for TAB2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TAB2 Gene

Gene Tree for TAB2 (if available)
Gene Tree for TAB2 (if available)

Paralogs for TAB2 Gene

Paralogs for TAB2 Gene

(2) SIMAP similar genes for TAB2 Gene using alignment to 4 proteins: Pseudogenes for TAB2 Gene

genes like me logo Genes that share paralogs with TAB2: view

Variants for TAB2 Gene

Sequence variations from dbSNP and Humsavar for TAB2 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs237025 risk-factor, Diabetes mellitus, insulin-dependent, 5 149,400,554(+) G/A genic_downstream_transcript_variant, intron_variant
rs267607100 pathogenic, Congenital heart defects, multiple types, 2, Congenital heart defects, multiple types, 2 (CHTD2) [MIM:614980] 149,378,603(+) C/A coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs267607101 pathogenic, Congenital heart defects, multiple types, 2, Congenital heart defects, multiple types, 2 (CHTD2) [MIM:614980] 149,378,537(+) C/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs1057518437 pathogenic, not provided 149,378,166(+) C/A coding_sequence_variant, genic_downstream_transcript_variant, stop_gained
rs1064795547 pathogenic, not provided 149,378,826(+) CACA/CA coding_sequence_variant, frameshift, genic_downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for TAB2 Gene

Variant ID Type Subtype PubMed ID
esv2675622 CNV deletion 23128226
esv2732856 CNV deletion 23290073
esv2732857 CNV deletion 23290073
esv3540618 CNV deletion 23714750
esv3611206 CNV loss 21293372
esv988122 CNV deletion 20482838
nsv1074431 CNV deletion 25765185
nsv1117673 CNV deletion 24896259
nsv1122140 CNV deletion 24896259
nsv1137161 CNV deletion 24896259
nsv517889 CNV loss 19592680
nsv522875 CNV loss 19592680
nsv5531 CNV insertion 18451855
nsv949866 CNV deletion 24416366
nsv949867 CNV duplication 24416366
nsv969455 CNV duplication 23825009
esv2671378 CNV deletion 23128226
esv25502 CNV loss 19812545
esv2451462 CNV deletion 19546169
esv2389269 CNV deletion 18987734
esv1582545 CNV deletion 17803354
dgv3411n106 CNV deletion 24896259
dgv3410n106 CNV deletion 24896259

Variation tolerance for TAB2 Gene

Residual Variation Intolerance Score: 7.34% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.57; 12.36% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TAB2 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TAB2 Gene

Disorders for TAB2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for TAB2 Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search TAB2 in MalaCards View complete list of genes associated with diseases


  • Congenital heart defects, multiple types, 2 (CHTD2) [MIM:614980]: A disease characterized by congenital developmental abnormalities involving structures of the heart. CHTD2 patients have left ventricular outflow tract obstruction, subaortic stenosis, residual aortic regurgitation, atrial fibrillation, bicuspid aortic valve and aortic dilation. {ECO:0000269 PubMed:20493459}. Note=The disease is caused by mutations affecting the gene represented in this entry. A chromosomal aberration involving TAB2 has been found in a family with congenital heart disease. Translocation t(2;6)(q21;q25).

Additional Disease Information for TAB2

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TAB2: view

No data available for Genatlas for TAB2 Gene

Publications for TAB2 Gene

  1. TAB2, a novel adaptor protein, mediates activation of TAK1 MAPKKK by linking TAK1 to TRAF6 in the IL-1 signal transduction pathway. (PMID: 10882101) Takaesu G … Matsumoto K (Molecular cell 2000) 2 3 4 22 58
  2. Two-sided ubiquitin binding explains specificity of the TAB2 NZF domain. (PMID: 19935683) Kulathu Y … Komander D (Nature structural & molecular biology 2009) 3 4 22 58
  3. RBCK1 negatively regulates tumor necrosis factor- and interleukin-1-triggered NF-kappaB activation by targeting TAB2/3 for degradation. (PMID: 17449468) Tian Y … Shu HB (The Journal of biological chemistry 2007) 3 4 22 58
  4. Role of the TAB2-related protein TAB3 in IL-1 and TNF signaling. (PMID: 14633987) Ishitani T … Matsumoto K (The EMBO journal 2003) 3 4 22 58
  5. TAK1 is a ubiquitin-dependent kinase of MKK and IKK. (PMID: 11460167) Wang C … Chen ZJ (Nature 2001) 3 4 22 58

Products for TAB2 Gene

Sources for TAB2 Gene

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