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TBL2 Gene

protein-coding   GIFtS: 54
GCID: GC07M072983

Transducin (Beta)-Like 2

  See TBL2-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
Transducin (Beta)-Like 21 2     WS Beta-Transducin Repeats Protein2 3
Williams-Beuren Syndrome Chromosome Region 131 2     Transducin Beta-Like Protein 22
WBSCR132 3     Williams-Beuren Syndrome Chromosomal Region 13 Protein3
WS-betaTRP2 3     

External Ids:    HGNC: 115861   Entrez Gene: 266082   Ensembl: ENSG000001066387   OMIM: 6058425   UniProtKB: Q9Y4P33   

Export aliases for TBL2 gene to outside databases

Previous GC identifers: GC07M071624 GC07M072382 GC07M072396 GC07M072428 GC07M072621 GC07M068865


(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 TBL2 Gene:
This gene encodes a member of the beta-transducin protein family. Most proteins of the beta-transducin family are
involved in regulatory functions. This protein is possibly involved in some intracellular signaling pathway. This
gene is deleted in Williams-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at
7q11.23. (provided by RefSeq, Jul 2008)

GeneCards Summary for TBL2 Gene:
TBL2 (transducin (beta)-like 2) is a protein-coding gene. Diseases associated with TBL2 include williams-beuren syndrome, and supravalvular aortic stenosis.




(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_000007.13  NT_007933.16  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TBL2 gene promoter:
         HEN1   p53   Nkx5-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTBL2 promoter sequence
   Search Chromatin IP Primers for TBL2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TBL2


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

Entrez Gene cytogenetic band: 7q11.23   Ensembl cytogenetic band:  7q11.23   HGNC cytogenetic band: 7q11.23

TBL2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TBL2 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M072983:  view genomic region     (about GC identifiers)

Start:
72,983,262 bp from pter      End:
72,993,121 bp from pter
Size:
9,860 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 72,316,346-72,326,085     

(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: TBL2_HUMAN, Q9Y4P3 (See protein sequence)
Recommended Name: Transducin beta-like protein 2  
Size: 447 amino acids; 49798 Da
Sequence caution: Sequence=AAD28083.1; Type=Erroneous initiation;
Secondary accessions: Q9UQE2

Explore the universe of human proteins at neXtProt for TBL2: NX_Q9Y4P3

Explore proteomics data for TBL2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys120
  • Modification sites at PhosphoSitePlus

  • See TBL2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_036585.1  
    ENSEMBL proteins: 
     ENSP00000307260   ENSP00000398195   ENSP00000409820   ENSP00000407503   ENSP00000413979  
     ENSP00000404242   ENSP00000410737   ENSP00000407371   ENSP00000400569   ENSP00000408255  
     ENSP00000414865   ENSP00000406418  

    TBL2 Human Recombinant Protein Products:

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    Novus Biologicals TBL2 Proteins
    Novus Biologicals TBL2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for TBL2 

     
    antibodies-online proteins for TBL2 (6 products) 

     
    antibodies-online peptides for TBL2

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    Search eBioscience for ELISAs for TBL2 
    antibodies-online kits for TBL2 (4 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    WDR: WD repeat domain containing

    5 InterPro protein domains:
     IPR019775 WD40_repeat_CS
     IPR001680 WD40_repeat
     IPR020472 G-protein_beta_WD-40_rep
     IPR017986 WD40_repeat_dom
     IPR015943 WD40/YVTN_repeat-like_dom

    Graphical View of Domain Structure for InterPro Entry Q9Y4P3

    ProtoNet protein and cluster: Q9Y4P3

    UniProtKB/Swiss-Prot: TBL2_HUMAN, Q9Y4P3
    Similarity: Contains 7 WD repeats


    Find genes that share domains with TBL2           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:
         Genatlas biochemistry entry for TBL2:
    transducin (beta)-like 2,expressed in heart,brain,placenta,testis,skeletal muscle and pancreas,located in the
    Williams commonly deleted region

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0005515protein binding ----
    GO:0044822poly(A) RNA binding IDA--
         
    Find genes that share ontologies with TBL2           About GenesLikeMe


    Phenotypes:
         1 MGI phenotypic allele for Tbl2 (no phenotypes)

    Find genes that share phenotypes with TBL2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Tbl2tm1Lex for TBL2

       genOway: Develop your customized and physiologically relevant rodent model for TBL2

    miRNA
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    6 qRT-PCR Assays for microRNAs that regulate TBL2:
    hsa-miR-1290 hsa-miR-3934 hsa-miR-520d-5p hsa-miR-532-3p hsa-miR-1193 hsa-miR-524-5p
    SwitchGear 3'UTR luciferase reporter plasmidTBL2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for TBL2
    Predesigned siRNA for gene silencing in human, mouse, rat TBL2

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    Sino Biological Human cDNA Clone for TBL2
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TBL2

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBL2


    (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 COMPARTMENTS: 

    CompartmentConfidence
    extracellular2
    cytosol1
    endoplasmic reticulum1
    mitochondrion1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--

    Find genes that share ontologies with TBL2           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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TBL2
    Interactions:

        Search GeneGlobe Interaction Network for TBL2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    Selected Interacting proteins for TBL2 (Q9Y4P32, 3 ENSP000003072604) via UniProtKB, MINT, STRING, and/or I2D (see all 122)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PDPK1O155303, ENSP000003442204I2D: score=3 STRING: ENSP00000344220
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    USP44Q9H0E73, ENSP000002584994I2D: score=2 STRING: ENSP00000258499
    UBCP0CG482, ENSP000003448184MINT-6488791 STRING: ENSP00000344818
    ESR1P033723, ENSP000002062494I2D: score=1 STRING: ENSP00000206249
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--

    Find genes that share ontologies with TBL2           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 TBL2



    (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 TBL2 gene (2 alternative transcripts): 
    NM_012453.2  NM_032988.1  

    Unigene Cluster for TBL2:

    Transducin (beta)-like 2
    Hs.647044  [show with all ESTs]
    Unigene Representative Sequence: NM_012453
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):
    ENST00000305632(uc003tyh.3 uc010lbg.3 uc003tyi.3 uc011key.2)
    ENST00000459913 ENST00000424598(uc011kex.2) ENST00000450285 ENST00000417008
    ENST00000432538 ENST00000433464 ENST00000488915 ENST00000426966 ENST00000452475
    ENST00000495885 ENST00000437521 ENST00000435792 ENST00000452125 ENST00000476136
    ENST00000479892 ENST00000465279 ENST00000496056
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat TBL2 using miScript Target Protectors
    6 qRT-PCR Assays for microRNAs that regulate TBL2:
    hsa-miR-1290 hsa-miR-3934 hsa-miR-520d-5p hsa-miR-532-3p hsa-miR-1193 hsa-miR-524-5p
    SwitchGear 3'UTR luciferase reporter plasmidTBL2 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for TBL2
    Predesigned siRNA for gene silencing in human, mouse, rat TBL2
    Clone
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    OriGene clones in human, mouse for TBL2 (see all 7)
    OriGene ORF clones in mouse, rat for TBL2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: TBL2 (NM_012453)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TBL2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TBL2
    Primer
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    OriGene qPCR primer pairs and template standards for TBL2
    OriGene qSTAR qPCR primer pairs in human, mouse for TBL2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TBL2
      QuantiTect SYBR Green Assays in human, mouse, rat TBL2
      QuantiFast Probe-based Assays in human, mouse, rat TBL2

    Additional mRNA sequence: 

    AF056183.1 AF097484.1 AK000536.1 AK074619.1 AK130791.1 AK302265.1 AK302277.1 AK314499.1 
    AL080162.1 AY358518.1 BC006308.2 BC012938.1 BC047354.1 BC114361.2 BC114362.1 

    19 DOTS entries:

    DT.454088  DT.95149365  DT.100813577  DT.95149373  DT.100834647  DT.121102464  DT.95149364  DT.121102482 
    DT.121102456  DT.95206681  DT.101984662  DT.121102480  DT.121102496  DT.40130493  DT.97861180  DT.100813570 
    DT.95149367  DT.99990484  DT.102832181 

    Selected AceView cDNA sequences (see all 273):

    BQ025092 BU845105 BM975117 BU742291 AI698060 AI934755 Z38920 BF513661 
    CK823880 BM844966 AI167471 BC012938 BM559607 AA722624 BQ949499 BM562532 
    AA369026 BF725012 BC006308 CA488515 D45660 AY358518 BM717529 NM_012453 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for TBL2 (see all 18)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g · 1h · 1i · 1j ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c · 5d ^ 6a · 6b · 6c · 6d · 6e ^ 7 ^ 8 ^ 9 ^
    SP1:                                      -     -     -     -     -     -     -     -     -     -                                         -                     
    SP2:                                      -     -     -     -     -     -     -     -     -     -                             -     -     -                     
    SP3:                                      -     -     -     -     -     -     -     -     -                                               -                     
    SP4:                                      -     -     -     -     -     -     -     -     -     -                                         -                     
    SP5:                                      -     -     -     -     -     -     -     -     -     -                                         -                     

    ExUns: 10a · 10b · 10c ^ 11a · 11b · 11c ^ 12a · 12b · 12c ^ 13a · 13b
    SP1:                    -     -     -     -                           
    SP2:                    -     -     -     -                           
    SP3:                    -     -     -     -                           
    SP4:                                                                  
    SP5:  -                 -     -     -     -                           


    ECgene alternative splicing isoforms for TBL2

    (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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    TBL2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    TBL2 Expression
    About this image

    TBL2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TBL2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.647044
        Custom PCR Arrays for TBL2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBL2

    (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 eukaryotes.

    Orthologs for TBL2 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tbl21 , 5 transducin (beta)-like 21, 5 84.99(n)1
    88.24(a)1
      5 (75.02 cM)5
    273681  NM_013763.21  NP_038791.21 
     1351496575 
    chicken
    (Gallus gallus)
    Aves TBL21 transducin (beta)-like 2 72.34(n)
    70.33(a)
      101751077  XM_004949978.1  XP_004950035.1 
    lizard
    (Anolis carolinensis)
    Reptilia TBL26
    transducin (beta)-like 2
    72(a)
    1 ↔ 1
    GL343734.1(221654-226509)
    African clawed frog
    (Xenopus laevis)
    Amphibia tbl2-prov2 transducin (beta)-like 2 73.14(n)    BC043633.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.104172 Transcribed sequence with weak similarity to protein more 74.17(n)    CF996240.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F46C5.91 F46C5.9 43.08(n)
    31.07(a)
      174409  NM_063476.3  NP_495877.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G000901 AT4G00090 42.68(n)
    33.23(a)
      828179  NM_116226.3  NP_567150.1 
    rice
    (Oryza sativa)
    Liliopsida Os03g08584001 Os03g0858400 43.22(n)
    29.34(a)
      4334851  NM_001058496.1  NP_001051961.1 


    ENSEMBL Gene Tree for TBL2 (if available)
    TreeFam Gene Tree for TBL2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TBL2 gene
    3 SIMAP similar genes for TBL2 using alignment to 12 protein entries:     TBL2_HUMAN (see all proteins):
    RBP7    TUBA1C    COQ5

    Find genes that share paralogs with TBL2           About GenesLikeMe



    (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 TBL2 (see all 321)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs345508181,2
    C--72989141(+) AAAAA-/ACAAAC 1 -- int11Minor allele frequency- A:0.50NA 2
    rs342595911,2
    C--72990537(+) GATCA-/TTTTTT 1 -- int11Minor allele frequency- T:0.00CSA 2
    rs557709851,2
    C--72993121(+) CCTGG-/TAGTTA 1 -- us2k10--------
    rs1487625971,2
    --76507831(+) CCCCCC/GATCCT 1 -- ds50010--------
    rs1928902651,2
    --76507855(+) AAGCCC/TGCCCT 1 -- ds50010--------
    rs171457381,2
    C,F,H--76507926(+) ATTTAC/TGGTGC 1 -- ds500132Minor allele frequency- N:0.00NA EA NS CSA WA 3402
    rs1849542711,2
    --76507937(+) CCATCA/TGACAT 1 -- ds50010--------
    rs1877879261,2
    --76507961(+) AGGGGC/GGACGA 1 -- ds50010--------
    rs1159678041,2
    C,F--76507964(+) GGGGAC/TGAAGC 1 -- ds50011Minor allele frequency- T:0.03WA 118
    rs1915701971,2
    --76508041(+) TGGCTA/CACACC 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for TBL2 (72983262 - 72993121 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for TBL2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv831028CNV Loss17160897
    nsv888369CNV Loss21882294
    dgv7325n71CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing TBL2
    DNA2.0 Custom Variant and Variant Library Synthesis for TBL2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605842    OMIM disorders: --

    UniProtKB/Swiss-Prot: TBL2_HUMAN, Q9Y4P3
  • Note=TBL2 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous
    deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over
    between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of TBL2 may
    be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease

  • 2 diseases for TBL2:    
    About MalaCards
    williams-beuren syndrome    supravalvular aortic stenosis

    1 disease from the University of Copenhagen DISEASES database for TBL2:
    Supravalvular aortic stenosis

    Find genes that share disorders with TBL2           About GenesLikeMe

    Genetic Association Database (GAD): TBL2
    Human Genome Epidemiology (HuGE) Navigator: TBL2 (12 documents)

    Export disorders for TBL2 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 TBL2 gene, integrated from 10 sources (see all 37):
    (articles sorted by number of sources associating them with TBL2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. TBL2, a novel transducin family member in the WBS deletion: characterization of the complete sequence, genomic structure, transcriptional variants and the mouse ortholog. (PubMed id 10575226)1, 2, 3, 9 Perez Jurado L.A.... Cruces J. (Cytogenet. Cell Genet. 1999)
    2. Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genes. (PubMed id 9860302)1, 2, 3 Meng X....Keating M.T. (Hum. Genet. 1998)
    3. Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits. (PubMed id 21909109)1, 4 Kim Y.J....Cho Y.S. (Nat. Genet. 2011)
    4. Evaluating the discriminative power of multi-trait genetic risk scores for type 2 diabetes in a northern Swedish population. (PubMed id 20571754)1, 4 Fontaine-Bisson B....Franks P.W. (Diabetologia 2010)
    5. Biological, clinical and population relevance of 95 loci for blood lipids. (PubMed id 20686565)1, 4 Teslovich T.M....Kathiresan S. (Nature 2010)
    6. Fine-mapping in African Americans of 8 recently discovered genetic loci for plasma lipids: the Jackson Heart Study. (PubMed id 20570916)1, 4 Keebler M.E....Kathiresan S. (Circ Cardiovasc Genet 2010)
    7. A polygenic basis for four classical Fredrickson hyperlipoproteinemia phenotypes that are characterized by hypertriglyceridemia. (PubMed id 19656773)1, 4 Hegele R.A....Wang J. (Hum. Mol. Genet. 2009)
    8. Physiogenomic comparison of edema and BMI in patients receiving rosiglitazone or pioglitazone. (PubMed id 18996102)1, 4 RuaA+o G....Hanks S. ( international journal of clinical chemistry 2009)
    9. Polygenic determinants of severe hypertriglyceridemia. (PubMed id 18596051)1, 4 Wang J....Hegele R.A. (Hum. Mol. Genet. 2008)
    10. Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. (PubMed id 18193044)1, 4 Kathiresan S....Orho-Melander M. (Nat. Genet. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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)
    About This Section

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    Entrez Gene: 26608 HGNC: 11586 AceView: TBL2 Ensembl:ENSG00000106638 euGenes: HUgn26608
    ECgene: TBL2 H-InvDB: TBL2

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for TBL2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for TBL2 gene:
    Search GeneIP for patents involving TBL2

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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