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    TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 [ Homo sapiens (human) ]

    Gene ID: 23118, updated on 5-Sep-2021

    Summary

    Official Symbol
    TAB2provided by HGNC
    Official Full Name
    TGF-beta activated kinase 1 (MAP3K7) binding protein 2provided by HGNC
    Primary source
    HGNC:HGNC:17075
    See related
    Ensembl:ENSG00000055208 Ensembl:ENSG00000228408 MIM:605101
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CHTD2; TAB-2; MAP3K7IP2
    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 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]
    Expression
    Ubiquitous expression in thyroid (RPKM 17.2), esophagus (RPKM 14.8) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See TAB2 in Genome Data Viewer
    Location:
    6q25.1
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (149217926..149411611)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (149539062..149732743)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uronyl 2-sulfotransferase Neighboring gene uncharacterized LOC105378046 Neighboring gene small nuclear ribonucleoprotein polypeptide B2 pseudogene Neighboring gene TAB2 antisense RNA 1 Neighboring gene RNA, 7SL, cytoplasmic 234, pseudogene Neighboring gene fatty acid binding protein 12 pseudogene 1 Neighboring gene small ubiquitin like modifier 4 Neighboring gene zinc finger CCCH-type containing 12D Neighboring gene coiled-coil domain containing 59 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Congenital heart defects, multiple types, 2
    MedGen: C3554279 OMIM: 614980 GeneReviews: Not available
    Compare labs
    Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study.
    GeneReviews: Not available
    Genome-wide association study in east Asians identifies novel susceptibility loci for breast cancer.
    GeneReviews: Not available
    Genome-wide meta-analysis for severe diabetic retinopathy.
    GeneReviews: Not available
    Wnt signaling and Dupuytren's disease.
    GeneReviews: Not available

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2020-05-27)

    ClinGen Genome Curation Page
    Haploinsufficency

    Little evidence for dosage pathogenicity (Last evaluated 2020-05-27)

    ClinGen Genome Curation PagePubMed

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of TGF-beta activated kinase 1/MAP3K7 binding protein 2 (TAB2; MAP3K7IP2) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 is identified to have a physical interaction with TGF-beta activated kinase 1/MAP3K7 binding protein 2 (TAB2) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
    Tat tat Primary human Muller glia cells treated with both HIV-1 clade B and clade C Tat upregulate the expression of TAB-2 PubMed
    capsid gag The TAK1 kinase complex (TAK1/TAB2/TAB3) contributes to capsid-specific restriction mediated by TRIM5alpha. TRIM5alpha activates TAK1 autophosphorylation PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ21885, KIAA0733, DKFZp781G0741

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables K63-linked polyubiquitin modification-dependent protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables K63-linked polyubiquitin modification-dependent protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ubiquitin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables zinc ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in endosome membrane TAS
    Traceable Author Statement
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    TGF-beta-activated kinase 1 and MAP3K7-binding protein 2
    Names
    TAK1-binding protein 2
    mitogen-activated protein kinase kinase kinase 7-interacting protein 2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_021386.2 RefSeqGene

      Range
      105377..198690
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001292034.3NP_001278963.1  TGF-beta-activated kinase 1 and MAP3K7-binding protein 2 isoform a

      See identical proteins and their annotated locations for NP_001278963.1

      Status: REVIEWED

      Source sequence(s)
      AB018276, AL138727, BC035910
      Consensus CDS
      CCDS5214.1
      UniProtKB/Swiss-Prot
      Q9NYJ8
      Related
      ENSP00000490618.1, ENST00000637181.2
      Conserved Domains (4) summary
      smart00547
      Location:667690
      ZnF_RBZ; Zinc finger domain
      cd14362
      Location:950
      CUE_TAB2_TAB3; CUE domain found in the N-terminal of TGF-beta-activated kinase 1 and MAP3K7-binding proteins TAB2, TAB3 and similar proteins
      TIGR04523
      Location:537614
      Mplasa_alph_rch; helix-rich Mycoplasma protein
      sd00029
      Location:668687
      zf-RanBP2; RanBP2-type Zn finger [structural motif]
    2. NM_001292035.3NP_001278964.1  TGF-beta-activated kinase 1 and MAP3K7-binding protein 2 isoform b

      See identical proteins and their annotated locations for NP_001278964.1

      Status: REVIEWED

      Source sequence(s)
      AK295750, BC035910, BX645362
      UniProtKB/Swiss-Prot
      Q9NYJ8
      UniProtKB/TrEMBL
      B4DIR9
      Conserved Domains (3) summary
      smart00547
      Location:635658
      ZnF_RBZ; Zinc finger domain
      sd00029
      Location:636655
      zf-RanBP2; RanBP2-type Zn finger [structural motif]
      cl00087
      Location:502570
      HR1; Protein kinase C-related kinase homology region 1 (HR1) domain that binds Rho family small GTPases
    3. NM_001369506.1NP_001356435.1  TGF-beta-activated kinase 1 and MAP3K7-binding protein 2 isoform a

      Status: REVIEWED

      Source sequence(s)
      AL031133, AL138727, AL139103
      Related
      ENSP00000445752.1, ENST00000538427.5
      Conserved Domains (4) summary
      smart00547
      Location:667690
      ZnF_RBZ; Zinc finger domain
      cd14362
      Location:950
      CUE_TAB2_TAB3; CUE domain found in the N-terminal of TGF-beta-activated kinase 1 and MAP3K7-binding proteins TAB2, TAB3 and similar proteins
      TIGR04523
      Location:537614
      Mplasa_alph_rch; helix-rich Mycoplasma protein
      sd00029
      Location:668687
      zf-RanBP2; RanBP2-type Zn finger [structural motif]
    4. NM_015093.6NP_055908.1  TGF-beta-activated kinase 1 and MAP3K7-binding protein 2 isoform a

      See identical proteins and their annotated locations for NP_055908.1

      Status: REVIEWED

      Source sequence(s)
      AK307650, AK315038, BC035910
      Consensus CDS
      CCDS5214.1
      UniProtKB/Swiss-Prot
      Q9NYJ8
      Conserved Domains (4) summary
      smart00547
      Location:667690
      ZnF_RBZ; Zinc finger domain
      cd14362
      Location:950
      CUE_TAB2_TAB3; CUE domain found in the N-terminal of TGF-beta-activated kinase 1 and MAP3K7-binding proteins TAB2, TAB3 and similar proteins
      TIGR04523
      Location:537614
      Mplasa_alph_rch; helix-rich Mycoplasma protein
      sd00029
      Location:668687
      zf-RanBP2; RanBP2-type Zn finger [structural motif]

    RNA

    1. NR_125861.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AI159838, BX645362, DB467477
      Related
      ENST00000443992.1

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

      Range
      149217926..149411611
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011535633.2XP_011533935.1  TGF-beta-activated kinase 1 and MAP3K7-binding protein 2 isoform X1

      See identical proteins and their annotated locations for XP_011533935.1

      UniProtKB/Swiss-Prot
      Q9NYJ8
      Related
      ENSP00000356426.1, ENST00000367456.5
      Conserved Domains (4) summary
      smart00547
      Location:667690
      ZnF_RBZ; Zinc finger domain
      cd14362
      Location:950
      CUE_TAB2_TAB3; CUE domain found in the N-terminal of TGF-beta-activated kinase 1 and MAP3K7-binding proteins TAB2, TAB3 and similar proteins
      TIGR04523
      Location:537614
      Mplasa_alph_rch; helix-rich Mycoplasma protein
      sd00029
      Location:668687
      zf-RanBP2; RanBP2-type Zn finger [structural motif]
    2. XM_017010592.2XP_016866081.1  TGF-beta-activated kinase 1 and MAP3K7-binding protein 2 isoform X1

      UniProtKB/Swiss-Prot
      Q9NYJ8
      Conserved Domains (4) summary
      smart00547
      Location:667690
      ZnF_RBZ; Zinc finger domain
      cd14362
      Location:950
      CUE_TAB2_TAB3; CUE domain found in the N-terminal of TGF-beta-activated kinase 1 and MAP3K7-binding proteins TAB2, TAB3 and similar proteins
      TIGR04523
      Location:537614
      Mplasa_alph_rch; helix-rich Mycoplasma protein
      sd00029
      Location:668687
      zf-RanBP2; RanBP2-type Zn finger [structural motif]

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_145342.1: Suppressed sequence

      Description
      NM_145342.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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