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TCEB2 Gene

protein-coding   GIFtS: 60
GCID: GC16M002824

Transcription Elongation Factor B (SIII), Polypeptide 2...

(Previous names: transcription elongation factor B (SIII), polypeptide 2...)
  See TCEB2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Transcription Elongation Factor B (SIII), Polypeptide 2 (18kDa, Elongin
B)1 2
     Elongin, 18-KD Subunit2
Elongin 18 KDa Subunit2 3     elongin-B2
RNA Polymerase II Transcription Factor SIII Subunit B2 3     RNA Polymerase II Transcription Factor SIII P18 Subunit2
SIII P182 3     Transcription Elongation Factor B Polypeptide 22
Transcription Elongation Factor B (SIII), Polypeptide 2 (18kD, Elongin B)1     EloB3
ELOB2     Elongin-B3
SIII2     

External Ids:    HGNC: 116191   Entrez Gene: 69232   Ensembl: ENSG000001033637   OMIM: 6007875   UniProtKB: Q153703   

Export aliases for TCEB2 gene to outside databases

Previous GC identifers: GC16M002841 GC16M002822 GC16M002823 GC16M002764 GC16M002765 GC16M002767


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for TCEB2 Gene:
This gene encodes the protein elongin B, which is a subunit of the transcription factor B (SIII) complex. The SIII
complex is composed of elongins A/A2, B and C. It activates elongation by RNA polymerase II by suppressing
transient pausing of the polymerase at many sites within transcription units. Elongin A functions as the
transcriptionally active component of the SIII complex, whereas elongins B and C are regulatory subunits. Elongin
A2 is specifically expressed in the testis, and capable of forming a stable complex with elongins B and C. The
von Hippel-Lindau tumor suppressor protein binds to elongins B and C, and thereby inhibits transcription
elongation. Two alternatively spliced transcript variants encoding different isoforms have been described for
this gene. Pseudogenes have been identified on chromosomes 11 and 13. (provided by RefSeq, Aug 2008)

GeneCards Summary for TCEB2 Gene:
TCEB2 (transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B)) is a protein-coding gene. Diseases associated with TCEB2 include renal clear cell carcinoma, and kidney cancer. GO annotations related to this gene include ubiquitin protein ligase binding.

UniProtKB/Swiss-Prot: ELOB_HUMAN, Q15370
Function: SIII, also known as elongin, is a general transcription elongation factor that increases the RNA
polymerase II transcription elongation past template-encoded arresting sites. Subunit A is transcriptionally
active and its transcription activity is strongly enhanced by binding to the dimeric complex of the SIII
regulatory subunits B and C (elongin BC complex)
Function: The elongin BC complex seems to be involved as an adapter protein in the proteasomal degradation of
target proteins via different E3 ubiquitin ligase complexes, including the von Hippel-Lindau ubiquitination
complex CBC(VHL). By binding to BC-box motifs it seems to link target recruitment subunits, like VHL and members
of the SOCS box family, to Cullin/RBX1 modules that activate E2 ubiquitination enzymes

Gene Wiki entry for TCEB2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000016.9  NT_010393.17  NC_018927.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TCEB2 gene promoter:
         AhR   SRF   ER-alpha   AML1a   p53   SRF (504 AA)   GATA-1   AREB6   Egr-2   c-Myb   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTCEB2 promoter sequence
   Search Chromatin IP Primers for TCEB2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TCEB2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p12.3   Ensembl cytogenetic band:  16p13.3   HGNC cytogenetic band: 16p12.3

TCEB2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TCEB2 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M002824:  view genomic region     (about GC identifiers)

Start:
2,821,415 bp from pter      End:
2,827,298 bp from pter
Size:
5,884 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: ELOB_HUMAN, Q15370 (See protein sequence)
Recommended Name: Transcription elongation factor B polypeptide 2  
Size: 118 amino acids; 13133 Da
Subunit: Heterotrimer of an A (A1, A2 or A3), B and C subunit. Part of E3 ubiquitin ligase complexes with CUL5 or
CUL2, RBX1 and a substrate adapter protein that can be either SOCS1, SOCS5, TCEB3, VHL or WSB1. Substrate adapter
protein can be a viral protein such as HIV Vif. Interacts with VHL. Found in a complex composed of LIMD1, VHL,
EGLN1/PHD2, TCEB2 AND CUL2. Interacts with SPSB1. Interacts with KLHDC10; which may be an E3 ubiquitin ligase
complex substrate recognition component
Sequence caution: Sequence=AAC08452.1; Type=Erroneous gene model prediction;
Selected PDB 3D structures from and Proteopedia for TCEB2 (see all 22):
1LM8 (3D)        1LQB (3D)        1VCB (3D)        2C9W (3D)        2IZV (3D)        2JZ3 (3D)    
Secondary accessions: B7WPD3
Alternative splicing: 2 isoforms:  Q15370-1   Q15370-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TCEB2: NX_Q15370

Explore proteomics data for TCEB2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys36, Lys46
  • Modification sites at PhosphoSitePlus

  • See TCEB2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_009039.1  NP_996896.1  

    ENSEMBL proteins: 
     ENSP00000262306   ENSP00000386652   ENSP00000387189   ENSP00000458213   ENSP00000458443  
    Reactome Protein details: Q15370

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    antibodies-online peptides for TCEB2

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR000626 Ubiquitin_dom

    Graphical View of Domain Structure for InterPro Entry Q15370

    ProtoNet protein and cluster: Q15370

    1 Blocks protein domain: IPB000626 Ubiquitin domain

    UniProtKB/Swiss-Prot: ELOB_HUMAN, Q15370
    Similarity: Contains 1 ubiquitin-like domain


    Find genes that share domains with TCEB2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ELOB_HUMAN, Q15370
    Function: SIII, also known as elongin, is a general transcription elongation factor that increases the RNA
    polymerase II transcription elongation past template-encoded arresting sites. Subunit A is transcriptionally
    active and its transcription activity is strongly enhanced by binding to the dimeric complex of the SIII
    regulatory subunits B and C (elongin BC complex)
    Function: The elongin BC complex seems to be involved as an adapter protein in the proteasomal degradation of
    target proteins via different E3 ubiquitin ligase complexes, including the von Hippel-Lindau ubiquitination
    complex CBC(VHL). By binding to BC-box motifs it seems to link target recruitment subunits, like VHL and members
    of the SOCS box family, to Cullin/RBX1 modules that activate E2 ubiquitination enzymes

         Genatlas biochemistry entry for TCEB2:
    elongin B,18kDa,regulatory subunit of the transcription elongation factor B (SIII),complex SIII,polypeptide 2 (see
    TCEB3). Also complexing with TCEB2,CUL2 and VHL to form the VCB-CUL2 complex (see VHL)

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003746translation elongation factor activity ----
    GO:0005515protein binding IPI10205047
    GO:0031625ubiquitin protein ligase binding IDA17636018
         
    Find genes that share ontologies with TCEB2           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for TCEB2

    miRNA
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    miRTarBase miRNAs that target TCEB2:
    hsa-mir-222-3p (MIRT046585), hsa-mir-484 (MIRT041767), hsa-mir-125a-5p (MIRT021300), hsa-mir-92a-3p (MIRT049493)

    Block miRNA regulation of human, mouse, rat TCEB2 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate TCEB2:
    hsa-miR-130b* hsa-miR-1827 hsa-miR-216b hsa-miR-583
    SwitchGear 3'UTR luciferase reporter plasmidTCEB2 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ELOB_HUMAN, Q15370: Nucleus (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus4
    extracellular1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005654nucleoplasm TAS--
    GO:0005829cytosol TAS--
    GO:0031462Cul2-RING ubiquitin ligase complex IDA17636018
    GO:0031466Cul5-RING ubiquitin ligase complex IDA17636018
    GO:0070449elongin complex IEA--

    Find genes that share ontologies with TCEB2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for TCEB2 About   (see all 16)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Class I MHC mediated antigen processing and presentation
    Class I MHC mediated antigen processing and presentation0.84
    Adaptive Immune System0.41
    Antigen processing- Ubiquitination and Proteasome degradation0.84
    Ubiquitin mediated proteolysis0.35
    2Formation of RNA Pol II elongation complex
    Tat-mediated elongation of the HIV-1 transcript0.77
    Pausing and recovery of HIV elongation0.73
    HIV Transcription Elongation0.77
    HIV elongation arrest and recovery0.73
    Formation of HIV-1 elongation complex containing HIV-1 Tat0.77
    Pausing and recovery of Tat-mediated HIV elongation0.72
    RNA Polymerase II Transcription Elongation0.75
    Tat-mediated HIV elongation arrest and recovery0.72
    3HIV Life Cycle
    HIV Life Cycle0.91
    HIV Infection0.62
    Late Phase of HIV Life Cycle0.91
    Host Interactions of HIV factors0.60
    4Regulation of Hypoxia-inducible Factor (HIF) by Oxygen
    Regulation of Hypoxia-inducible Factor (HIF) by Oxygen1.00
    Oxygen-dependent Proline Hydroxylation of Hypoxia-inducible Factor Alpha0.00
    Cellular response to hypoxia1.00
    5TGF-Beta Pathway
    JAK-STAT Pathway0.57
    SOCS Pathway0.40


    Find genes that share SuperPaths with TCEB2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for TCEB2
        HIF1Alpha Pathway
    JAK-STAT Pathway
    SOCS Pathway

    2 BioSystems Pathways for TCEB2
        HIF-2-alpha transcription factor network
    Hypoxic and oxygen homeostasis regulation of HIF-1-alpha

    Selected Reactome Pathways for TCEB2 (see all 13)
        Pausing and recovery of Tat-mediated HIV elongation
    Tat-mediated HIV elongation arrest and recovery
    Formation of RNA Pol II elongation complex
    Tat-mediated elongation of the HIV-1 transcript
    Pausing and recovery of HIV elongation


    4 Kegg Pathways  (Kegg details for TCEB2):
        HIF-1 signaling pathway
    Ubiquitin mediated proteolysis
    Pathways in cancer
    Renal cell carcinoma

    UniProtKB/Swiss-Prot: ELOB_HUMAN, Q15370
    Pathway: Protein modification; protein ubiquitination

        Pathway & Disease-focused RT2 Profiler PCR Array including TCEB2: 

              Ubiquitin Ligases in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for TCEB2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for TCEB2 (Q153701, 2, 3 ENSP000002623064) via UniProtKB, MINT, STRING, and/or I2D (see all 159)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CUL2Q136172, 3, ENSP000003638804MINT-8295466 MINT-8295568 MINT-7014221 MINT-6543008 MINT-6542668 MINT-8295435 MINT-7014239 MINT-7014201 MINT-8295545 I2D: score=2 STRING: ENSP00000363880
    TCEB1Q153691, 2, 3, ENSP000002848114EBI-301238,EBI-301231 MINT-8295466 MINT-8295568 MINT-7014221 MINT-6543008 MINT-6542668 MINT-8295435 MINT-7014239 MINT-7014201 MINT-68462 MINT-8295545 I2D: score=12 STRING: ENSP00000284811
    RBX1P628772, 3, ENSP000002162254MINT-7014221 MINT-8295435 MINT-7014239 MINT-7014201 I2D: score=2 STRING: ENSP00000216225
    CORO7P577372, 3, ENSP000002511664MINT-8076005 I2D: score=2 STRING: ENSP00000251166
    MED8Q96G251, 3, ENSP000002906634EBI-301238,EBI-394405 I2D: score=2 STRING: ENSP00000290663
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    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006366transcription from RNA polymerase II promoter TAS--
    GO:0006368transcription elongation from RNA polymerase II promoter TAS--
    GO:0006461protein complex assembly TAS7660129
    GO:0010467gene expression TAS--
    GO:0016032viral process TAS--

    Find genes that share ontologies with TCEB2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TCEB2 (ELOB)

    2 Novoseek inferred chemical compound relationships for TCEB2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    vegf 25.9 2 9652757 (1), 9751722 (1)
    glucose 0 1 9891082 (1)



    Find genes that share compounds with TCEB2           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for TCEB2 gene (2 alternative transcripts): 
    NM_007108.3  NM_207013.2  

    Unigene Cluster for TCEB2:

    Transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B)
    Hs.172772  [show with all ESTs]
    Unigene Representative Sequence: BU603847
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000262306 ENST00000409906(uc002crm.3 uc002crn.3) ENST00000409477
    ENST00000494946 ENST00000572954
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      QuantiFast Probe-based Assays in human, mouse, rat TCEB2

    Additional mRNA sequence: 

    BC013306.2 BC065000.1 L42856.1 

    18 DOTS entries:

    DT.95311881  DT.99944138  DT.120719014  DT.91801633  DT.120719050  DT.100044448  DT.100813992  DT.99955467 
    DT.91747758  DT.120718902  DT.120719001  DT.95311830  DT.120739630  DT.95311832  DT.97759922  DT.102839219 
    DT.451624  DT.91707108 

    Selected AceView cDNA sequences (see all 378):

    AI802308 R29137 AI338594 BU752143 AI188746 T35945 BM669977 BM924966 
    BG943820 F09446 CB243885 L42856 BQ216099 NM_207013 AJ572509 BM921799 
    BM698429 NM_007108 BM700019 BM765460 AJ708968 AJ571955 BU736180 AW008966 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for TCEB2    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5
    SP1:              -                       -     -         
    SP2:              -                                       
    SP3:              -           -                           
    SP4:                                                      


    ECgene alternative splicing isoforms for TCEB2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TCEB2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATCCGGCGCC
    TCEB2 Expression
    About this image


    TCEB2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Intermediate Mesoderm (Gastrulation Derivatives)
             Mesonephros
     
     Kidney (Urinary System)
             Metanephros
    TCEB2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TCEB2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.172772
        Pathway & Disease-focused RT2 Profiler PCR Array including TCEB2: 
              Ubiquitin Ligases in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for TCEB2 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tceb25 transcription elongation factor B (SIII), polypeptide more   --   17 (12.08 cM) 23824740 
    lizard
    (Anolis carolinensis)
    Reptilia TCEB26
    transcription elongation factor B (SIII), polypept...
    87(a)
    1 ↔ 1
    GL343287.1(1437653-1440819)
    African clawed frog
    (Xenopus laevis)
    Amphibia tceb2-prov2 transcription elongation factor B (SIII) polypeptide more 77.13(n)    BC056504.1 
    zebrafish
    (Danio rerio)
    Actinopterygii tceb22 Danio rerio cDNA clone IMAGE5915037, partial cds 75.48(n)    BC054698.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Elongin-B6
    Elongin B
    53(a)
    1 ↔ 1
    3R(16403944-16405593)
    worm
    (Caenorhabditis elegans)
    Secernentea elb-16
    Protein ELB-1 (elb-1) mRNA, complete cds
    36(a)
    1 ↔ 1
    III(11718836-11719452) WBGene00001235


    ENSEMBL Gene Tree for TCEB2 (if available)
    TreeFam Gene Tree for TCEB2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TCEB2 gene

    Find genes that share paralogs with TCEB2           About GenesLikeMe


    4 Pseudogenes.org Pseudogenes for TCEB2
    PGOHUM00000238402 PGOHUM00000242537 PGOHUM00000248339 PGOHUM00000240638


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TCEB2 (see all 188)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1393503541,2
    C--2821949(+) GACTCA/CCAAAT 2 -- ut31 int10--------
    rs71928491,2
    C--2821957(+) AATCTC/TTTTTA 2 -- ut31 int10--------
    rs2018498671,2
    --2821984(+) TCTTGA/GGGGTC 2 -- ut31 int10--------
    rs743402021,2
    C--2821988(+) GGGGGG/TCCTCA 2 -- ut31 int10--------
    rs32141911,2
    C--2821989(-) GTGAGG/-ACCCC 2 -- ut31 int12Minor allele frequency- -:0.00NA 4
    rs782923781,2
    C--2821989(+) GGGGTC/TCTCAC 2 -- ut31 int10--------
    rs2013713901,2
    C--2822024(+) CTTCCC/TGAGTC 4 S syn11Minor allele frequency- T:0.00EU 1313
    rs1923499701,2
    --2822030(+) GAGTCC/TTGGGG 4 Q syn10--------
    rs734964001,2
    C--2822116(+) GGAAGC/GAGCAG 2 -- int14Minor allele frequency- G:0.13WA CSA 124
    rs734964011,2
    C--2822129(+) CTGCAG/CGGGGG 2 -- int14Minor allele frequency- C:0.13WA CSA 124

    HapMap Linkage Disequilibrium report for TCEB2 (2821415 - 2827298 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for TCEB2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv905167CNV Loss21882294
    nsv905165CNV Loss21882294
    nsv905152CNV Loss21882294
    nsv905170CNV Loss21882294
    nsv471073CNV Loss18288195
    dgv2573n71CNV Loss21882294
    nsv905169CNV Loss21882294
    nsv905162CNV Gain21882294
    nsv827523CNV Gain20364138
    dgv793e1CNV Complex17122850

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TCEB2
    DNA2.0 Custom Variant and Variant Library Synthesis for TCEB2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600787    OMIM disorders: --

    2 diseases for TCEB2:    
    About MalaCards
    renal clear cell carcinoma    kidney cancer

    2 diseases from the University of Copenhagen DISEASES database for TCEB2:
    Hemangioma     Renal cell carcinoma

    Find genes that share disorders with TCEB2           About GenesLikeMe

    4 Novoseek inferred disease relationships for TCEB2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    renal clear cell carcinoma 77 1 9652757 (1)
    von hippel-lindau disease 71.7 2 9652757 (1), 11278610 (1)
    carcinoma renal cell 65.7 3 9751722 (1), 8700833 (1), 11526493 (1)
    tumors 36.9 18 7660130 (3), 9341197 (2), 9447969 (1), 10850421 (1) (see all 14)


    Export disorders for TCEB2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for TCEB2 gene, integrated from 10 sources (see all 204):
    (articles sorted by number of sources associating them with TCEB2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Positive regulation of general transcription factor SIII by a tailed ubiquitin homolog. (PubMed id 7638163)1, 2, 3 Garrett K.P.... Conaway J.W. (Proc. Natl. Acad. Sci. U.S.A. 1995)
    2. Drosophila von Hippel-Lindau tumor suppressor complex possesses E3 ubiquitin ligase activity. (PubMed id 11006129)1, 2, 9 Aso T.... Kitajima S. (Biochem. Biophys. Res. Commun. 2000)
    3. Phosphorylation of a novel SOCS-box regulates assembly of the HIV-1 Vif-Cul5 complex that promotes APOBEC3G degradation. (PubMed id 15574592)1, 2, 9 Mehle A.... Gabuzda D. (Genes Dev. 2004)
    4. The LIMD1 protein bridges an association between the prolyl hydroxylases and VHL to repress HIF-1 activity. (PubMed id 22286099)1, 2 Foxler D.E.... Sharp T.V. (Nat. Cell Biol. 2012)
    5. Suppressors of cytokine signaling 4 and 5 regulate epidermal growth factor receptor signaling. (PubMed id 15590694)1, 2 Kario E.... Yarden Y. (J. Biol. Chem. 2005)
    6. The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)1, 2 Martin J.... Pennacchio L.A. (Nature 2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Structure of an HIF-1alpha-pVHL complex: hydroxyproline recognition in signaling. (PubMed id 12004076)1, 2 Min J.-H....Pavletich N.P. (Science 2002)
    9. Structural basis for the recognition of hydroxyproline in HIF-1 alpha by pVHL. (PubMed id 12050673)1, 2 Hon W.-C.... Jones E.Y. (Nature 2002)
    10. Structure of the VHL-ElonginC-ElonginB complex: implications for VHL tumor suppressor function. (PubMed id 10205047)1, 2 Stebbins C.E.... Pavletich N.P. (Science 1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 6923 HGNC: 11619 AceView: TCEB2 Ensembl:ENSG00000103363 euGenes: HUgn6923
    ECgene: TCEB2 Kegg: 6923 H-InvDB: TCEB2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for TCEB2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TCEB2 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TCEB2 gene:
    Search GeneIP for patents involving TCEB2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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