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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, Nonsyndromic, 2 and Left Ventricular Outflow Tract Obstruction. Among its related pathways are Activated TLR4 signalling and Interleukin-1 signaling. 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06F149327 1.1 Ensembl ENCODE 18.5 +115.2 115177 11.4 PKNOX1 MLX CREB3L1 ZFP64 ARID4B SIN3A DMAP1 FEZF1 ZNF2 YY1 TAB2 LATS1 PPIL4 RPS18P9 SUMO4 LOC105378047 ENSG00000233330 LOC105378049 ENSG00000231760 GINM1
GH06F149147 0.8 FANTOM5 Ensembl ENCODE 18.4 -69.6 -69592 2.3 HDGF PKNOX1 CHD4 BMI1 FOXK2 EED ZNF143 ZNF207 E2F6 CREM TAB2 ENSG00000228408 LOC105378049 ZC3H12D PPIL4 PIR33930
GH06F149363 0.8 Ensembl 18.3 +146.4 146377 1.0 ARID1B GATA2 NCOR1 TAL1 BHLHE40 HMBOX1 KDM1A TAB2 SUMO4 RNU7-3P PPIL4 GC06P149383 FABP12P1
GH06F149127 1.3 FANTOM5 Ensembl ENCODE 17.7 -88.5 -88483 4.2 PKNOX1 ARNT GATA2 FOS ZNF263 NCOA1 MEF2D MAFF SMARCA4 PBX2 TAB2 ENSG00000228408 LOC105378049 ZC3H12D PIR33930
GH06F149365 1 Ensembl ENCODE 17.7 +148.3 148277 1.6 PKNOX1 CBFB ZNF512 IKZF1 JUNB CREM TAB2 SUMO4 RNU7-3P PPIL4 LOC105378049 GC06P149383 FABP12P1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

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

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

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for TAB2 (TAB2)
  • Abcam antibodies for TAB2
  • Santa Cruz Biotechnology (SCBT) Antibodies for 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.

Gene Ontology (GO) - Molecular Function for TAB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11460167
GO:0008270 zinc ion binding IEA --
GO:0046872 metal ion binding IEA --
GO:0070530 K63-linked polyubiquitin 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:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry 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

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

Gene Ontology (GO) - Cellular Components for TAB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
GO:0010008 endosome membrane TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with TAB2: view

Pathways & Interactions for TAB2 Gene

SuperPathways for TAB2 Gene

SuperPathway Contained pathways
1 Activated TLR4 signalling
2 Toll-Like receptor Signaling Pathways
3 Bacterial infections in CF airways
4 Toll-like receptor signaling pathway
5 TRAF Pathway
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:0002755 MyD88-dependent toll-like receptor signaling pathway TAS --
GO:0007249 I-kappaB kinase/NF-kappaB signaling TAS --
GO:0007254 JNK cascade 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

Transcripts for TAB2 Gene

Unigene Clusters for TAB2 Gene

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

Inhibitory RNA Products

Flow Cytometry Products

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, MaxQB, and MOPED for TAB2 Gene



NURSA nuclear receptor signaling pathways regulating expression of TAB2 Gene:

TAB2

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

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
chimpanzee
(Pan troglodytes)
Mammalia TAB2 34 35
  • 99.71 (n)
dog
(Canis familiaris)
Mammalia TAB2 34 35
  • 95.05 (n)
cow
(Bos Taurus)
Mammalia TAB2 34 35
  • 94.56 (n)
oppossum
(Monodelphis domestica)
Mammalia TAB2 35
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tab2 34 16 35
  • 91.44 (n)
rat
(Rattus norvegicus)
Mammalia Tab2 34
  • 90.11 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TAB2 35
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves TAB2 34 35
  • 85.31 (n)
lizard
(Anolis carolinensis)
Reptilia TAB2 35
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tab2 34
  • 76.71 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.17253 34
zebrafish
(Danio rerio)
Actinopterygii tab2 35
  • 54 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10639 35
  • 31 (a)
OneToMany
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

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
rs267607100 Congenital heart defects, multiple types, 2 (CHTD2) [MIM:614980], Pathogenic 149,378,603(+) AGACA(A/C)AACAG reference, missense
rs267607101 Congenital heart defects, multiple types, 2 (CHTD2) [MIM:614980], Pathogenic 149,378,537(+) ACAGT(C/T)CACAG reference, missense
rs237025 other 149,400,554(-) CTTCA(C/T)TGACA intron-variant, reference, missense
rs1000009 -- 149,267,031(-) GAAGC(C/G)TCATC intron-variant
rs1001965 -- 149,266,674(+) GGTTC(A/G)TGAAC intron-variant

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

Variant ID Type Subtype PubMed ID
dgv3410n106 CNV deletion 24896259
dgv3411n106 CNV deletion 24896259
esv1582545 CNV deletion 17803354
esv2389269 CNV deletion 18987734
esv2451462 CNV deletion 19546169
esv25502 CNV loss 19812545
esv2671378 CNV deletion 23128226
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

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

Human Gene Mutation Database (HGMD)
TAB2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TAB2

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

Disorders for TAB2 Gene

MalaCards: The human disease database

(4) 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 defects, nonsyndromic 2
left ventricular outflow tract obstruction
  • aortic stenosis
pulmonary valve disease
  • pulmonary valve disorder
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 22 64
  2. Two-sided ubiquitin binding explains specificity of the TAB2 NZF domain. (PMID: 19935683) Kulathu Y. … Komander D. (Nat. Struct. Mol. Biol. 2009) 3 4 22 64
  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 H.B. (J. Biol. Chem. 2007) 3 4 22 64
  4. Role of the TAB2-related protein TAB3 in IL-1 and TNF signaling. (PMID: 14633987) Ishitani T. … Matsumoto K. (EMBO J. 2003) 3 4 22 64
  5. TAK1 is a ubiquitin-dependent kinase of MKK and IKK. (PMID: 11460167) Wang C. … Chen Z.J. (Nature 2001) 3 4 22 64

Products for TAB2 Gene

Sources for TAB2 Gene

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