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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-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, nonsyndromic, 2 and left ventricular outflow tract obstruction. Among its related pathways are Epstein-Barr virus infection and Influenza A. GO annotations related to this gene include K63-linked polyubiquitin 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

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

Genomics for TAB2 Gene

Regulatory Elements for TAB2 Gene

Enhancers for TAB2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around TAB2 on UCSC Golden Path with GeneCards custom track

Genomic Location for TAB2 Gene

Chromosome:
6
Start:
149,217,924 bp from pter
End:
149,411,613 bp from pter
Size:
193,690 bases
Orientation:
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:
    Q9NYJ8-TAB2_HUMAN
    Recommended name:
    TGF-beta-activated kinase 1 and MAP3K7-binding protein 2
    Protein Accession:
    Q9NYJ8
    Secondary Accessions:
    • B2RCC4
    • E1P5A0
    • O94838
    • Q6I9W8
    • Q76N06
    • Q9UFP7

    Protein attributes for TAB2 Gene

    Size:
    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.
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for TAB2 Gene

Proteomics data for TAB2 Gene at MOPED

Post-translational modifications for TAB2 Gene

  • Phosphorylated.
  • Ubiquitinated; following IL1 stimulation or TRAF6 overexpression. Ubiquitination involves RBCK1 leading to proteasomal degradation.
  • Ubiquitination at Lys 656
  • Modification sites at PhosphoSitePlus

Other Protein References for TAB2 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for TAB2 (TAB2)

No data available for DME Specific Peptides for TAB2 Gene

Domains & Families for TAB2 Gene

Gene Families for TAB2 Gene

Protein Domains for TAB2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NYJ8

UniProtKB/Swiss-Prot:

TAB2_HUMAN :
  • The RanBP2-type zinc finger (NZF) mediates binding to two consecutive Lys-63-linked ubiquitins.
  • Contains 1 RanBP2-type zinc finger.
Domain:
  • The RanBP2-type zinc finger (NZF) mediates binding to two consecutive Lys-63-linked ubiquitins.
  • Contains 1 CUE domain.
Similarity:
  • Contains 1 RanBP2-type zinc finger.
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.
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:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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

COMPARTMENTS
Jensen Localization Image for TAB2 Gene COMPARTMENTS Subcellular localization image for TAB2 gene
Compartment Confidence
cytosol 5
endosome 4
nucleus 4
plasma membrane 4
golgi apparatus 1

No data available for Gene Ontology (GO) - Cellular Components for TAB2 Gene

Pathways & Interactions for TAB2 Gene

SuperPathways for TAB2 Gene

Superpath Contained pathways
1 MyD88 cascade initiated on plasma membrane
2 Toll-Like receptor Signaling Pathways
3 Interleukin-3, 5 and GM-CSF signaling
4 Bacterial infections in CF airways
5 Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways
genes like me logo Genes that share pathways with TAB2: view

SIGNOR curated interactions for TAB2 Gene

Activates:
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:0002224 toll-like receptor signaling pathway TAS --
GO:0002755 MyD88-dependent toll-like receptor signaling pathway TAS --
GO:0002756 MyD88-independent toll-like receptor signaling pathway TAS --
genes like me logo Genes that share ontologies with TAB2: view

Drugs & Compounds for TAB2 Gene

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TAB2: view

Transcripts for TAB2 Gene

Unigene Clusters for TAB2 Gene

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

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

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10
SP1: -
SP2:
SP3: -
SP4:

Relevant External Links for TAB2 Gene

GeneLoc Exon Structure for
TAB2
ECgene alternative splicing isoforms for
TAB2

Expression for TAB2 Gene

mRNA expression in normal human tissues 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, MOPED, and MaxQB for TAB2 Gene



SOURCE GeneReport for Unigene cluster for TAB2 Gene Hs.269775

mRNA Expression by UniProt/SwissProt for TAB2 Gene

Q9NYJ8-TAB2_HUMAN
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.
genes like me logo Genes that share expression patterns with TAB2: view

Primer Products

In Situ Assay Products

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
cow
(Bos Taurus)
Mammalia TAB2 35
  • 94.56 (n)
  • 96.68 (a)
TAB2 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TAB2 35
  • 95.05 (n)
  • 96.54 (a)
TAB2 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tab2 35
  • 91.44 (n)
  • 94.66 (a)
Tab2 16
Tab2 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TAB2 35
  • 99.71 (n)
  • 100 (a)
TAB2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tab2 35
  • 90.11 (n)
  • 93.71 (a)
oppossum
(Monodelphis domestica)
Mammalia TAB2 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TAB2 36
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves TAB2 35
  • 85.31 (n)
  • 88.01 (a)
TAB2 36
  • 87 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TAB2 36
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tab2 35
  • 76.71 (n)
  • 79.24 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.17253 35
zebrafish
(Danio rerio)
Actinopterygii tab2 36
  • 54 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10639 36
  • 31 (a)
OneToMany
Species with no ortholog for TAB2:
  • 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

ENSEMBL:
Gene Tree for TAB2 (if available)
TreeFam:
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.org 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 Sequence Context AA Info Type
rs267607101 Congenital heart defects, multiple types, 2 (CHTD2) 149,378,537(+) ACAGT(C/T)CACAG reference, missense
rs267607100 Congenital heart defects, multiple types, 2 (CHTD2) 149,378,603(+) AGACA(A/C)AACAG reference, missense
rs1053435 -- 149,378,919(+) ACAAA(A/G)AAATA reference, missense
rs1125776 -- 149,279,618(-) GAACA(G/T)ATATt intron-variant
rs1137782 -- 149,324,937(-) cactt(A/G)tagtc intron-variant

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

Variant ID Type Subtype PubMed ID
nsv522875 CNV Loss 19592680
nsv517889 CNV Loss 19592680
esv2675622 CNV Deletion 23128226

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)

Relevant External Links for TAB2 Gene

HapMap Linkage Disequilibrium report
TAB2
Human Gene Mutation Database (HGMD)
TAB2

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

Disorders for TAB2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for TAB2 Gene - From: OMIM, ClinVar, GeneTests, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
congenital heart defects, nonsyndromic, 2
  • congenital heart disease, nonsyndromic, 2
left ventricular outflow tract obstruction
  • aortic valve disease 2
ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive
  • hypohidrotic ectodermal dysplasia
- elite association - COSMIC cancer census association via MalaCards
Search TAB2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TAB2_HUMAN
  • 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).

Relevant External Links for TAB2

Genetic Association Database (GAD)
TAB2
Human Genome Epidemiology (HuGE) Navigator
TAB2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TAB2
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. (Mol. Cell 2000) 2 3 4 23 67
  2. Transforming growth factor beta-activated kinase 1 (TAK1) kinase adaptor, TAK1-binding protein 2, plays dual roles in TAK1 signaling by recruiting both an activator and an inhibitor of TAK1 kinase in tumor necrosis factor signaling pathway. (PMID: 19955178) Broglie P. … Ninomiya-Tsuji J. (J. Biol. Chem. 2010) 3 23
  3. TAB2 scaffolds TAK1 and NLK in repressing canonical Wnt signaling. (PMID: 20194509) Li M. … Li L. (J. Biol. Chem. 2010) 3 23
  4. Constitutive association of TGF-beta-activated kinase 1 with the IkappaB kinase complex in the nucleus and cytoplasm of human neutrophils and its impact on downstream processes. (PMID: 20200282) Ear T. … McDonald P.P. (J. Immunol. 2010) 3 23
  5. Cross interference with TNF-alpha-induced TAK1 activation via EGFR-mediated p38 phosphorylation of TAK1-binding protein 1. (PMID: 19393267) Shin M.S. … Sakurai H. (Biochim. Biophys. Acta 2009) 3 23

Products for TAB2 Gene

Sources for TAB2 Gene

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