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TBRG1 Gene

protein-coding   GIFtS: 47
GCID: GC11P124492

Transforming Growth Factor Beta Regulator 1

  See 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
Transforming Growth Factor Beta Regulator 11 2
Nuclear Interactor Of ARF And Mdm21 2 3
NIAM2 3 5
TB-52

External Ids:    HGNC: 295511   Entrez Gene: 848972   Ensembl: ENSG000001541447   OMIM: 6106145   UniProtKB: Q3YBR23   

Export aliases for TBRG1 gene to outside databases

Previous GC identifers: GC11P126493 GC11P126006 GC11P124526 GC11P124030 GC11P123997 GC11P120435


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for TBRG1 Gene:
TBRG1 (transforming growth factor beta regulator 1) is a protein-coding gene. Diseases associated with TBRG1 include weill-marchesani syndrome, and tracheal stenosis.

UniProtKB/Swiss-Prot: TBRG1_HUMAN, Q3YBR2
Function: Acts as a growth inhibitor. Can activate p53/TP53, causes G1 arrest and collaborates with CDKN2A to
restrict proliferation, but does not require either protein to inhibit DNA synthesis. Redistributes CDKN2A into
the nucleoplasm. Involved in maintaining chromosomal stability

Gene Wiki entry for TBRG1 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:
NC_000011.10  NT_033899.9  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TBRG1 gene promoter:
         E2F-4   E2F-3a   ISGF-3   E2F-5   p53   E2F-2   Evi-1   AREB6   E2F-1   E2F   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTBRG1 promoter sequence
   Search Chromatin IP Primers for TBRG1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TBRG1


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

Entrez Gene cytogenetic band: 11q24.2   Ensembl cytogenetic band:  11q24.2   HGNC cytogenetic band: 11q24.2

TBRG1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TBRG1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P124492:  view genomic region     (about GC identifiers)

Start:
124,492,732 bp from pter      End:
124,505,822 bp from pter
Size:
13,091 bases      Orientation:
plus 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: TBRG1_HUMAN, Q3YBR2 (See protein sequence)
Recommended Name: Transforming growth factor beta regulator 1  
Size: 411 amino acids; 44946 Da
Subunit: Interacts with CDKN2A and MDM2
Sequence caution: Sequence=BAB84966.1; Type=Frameshift; Positions=229;
1 PDB 3D structure from and Proteopedia for TBRG1:
2WZO (3D)    
Secondary accessions: Q53GJ5 Q66ZJ6 Q69YS7 Q8TCS4 Q8TEI4 Q96SV0
Alternative splicing: 3 isoforms:  Q3YBR2-1   Q3YBR2-2   Q3YBR2-3   

Explore the universe of human proteins at neXtProt for TBRG1: NX_Q3YBR2

Explore proteomics data for TBRG1 at MOPED

Post-translational modifications: 

  • Ubiquitinated; mediated by MDM2 and leading to its subsequent proteasomal degradation1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See TBRG1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_116200.2  
    ENSEMBL proteins: 
     ENSP00000436238   ENSP00000435448   ENSP00000284290   ENSP00000409016   ENSP00000395145  
     ENSP00000436599   ENSP00000364144  

    TBRG1 Human Recombinant Protein Products:

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    Novus Biologicals TBRG1 Protein
    Novus Biologicals TBRG1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

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    Search for Antibodies for TBRG1 at Abcam
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    ThermoFisher Antibodies for TBRG1
    LSBio Antibodies in human, mouse, rat for TBRG1

    TBRG1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR003889 FYrich_C
     IPR003888 FYrich_N

    Graphical View of Domain Structure for InterPro Entry Q3YBR2

    ProtoNet protein and cluster: Q3YBR2

    UniProtKB/Swiss-Prot: TBRG1_HUMAN, Q3YBR2
    Similarity: Belongs to the TBRG1 family
    Similarity: Contains 1 FYR C-terminal domain
    Similarity: Contains 1 FYR N-terminal domain


    TBRG1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TBRG1_HUMAN, Q3YBR2
    Function: Acts as a growth inhibitor. Can activate p53/TP53, causes G1 arrest and collaborates with CDKN2A to
    restrict proliferation, but does not require either protein to inhibit DNA synthesis. Redistributes CDKN2A into
    the nucleoplasm. Involved in maintaining chromosomal stability

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI17110379
         
    TBRG1 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TBRG1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TBRG1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TBRG1
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    miRNA
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    miRTarBase miRNAs that target TBRG1:
    hsa-mir-484 (MIRT042360), hsa-mir-16-5p (MIRT031449)

    Block miRNA regulation of human, mouse, rat TBRG1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TBRG1 (see all 24):
    hsa-miR-185* hsa-miR-4251 hsa-miR-539 hsa-miR-188-5p hsa-miR-15a hsa-miR-888* hsa-miR-141* hsa-miR-424
    SwitchGear 3'UTR luciferase reporter plasmidTBRG1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat TBRG1

    Gene Editing
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    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: TBRG1 (NM_032811)
    Sino Biological Human cDNA Clone for TBRG1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TBRG1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TBRG1

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for TBRG1 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBRG1


    (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
    TBRG1_HUMAN, Q3YBR2: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    mitochondrion2

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0043231intracellular membrane-bounded organelle IDA--

    TBRG1 for ontologies           About GeneDecksing


    (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 TBRG1 About   (see all 12)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Apoptotic Pathways in Synovial Fibroblasts
    Mitochondrial Apoptosis0.85
    Rac1 Pathway0.65
    Cellular Apoptosis Pathway0.85
    Glioma Invasiveness0.64
    Apoptotic Pathways in Synovial Fibroblasts0.84
    Actin-Based Motility by Rho Family GTPases0.62
    p53 Mediated Apoptosis0.84
    ERK5 Signaling0.61
    2GPCR Pathway
    Ras Pathway0.73
    Breast Cancer Regulation by Stathmin10.58
    Paxillin Interactions0.73
    NFAT in Immune Response0.58
    GPCR Pathway0.62
    Estrogen Pathway0.55
    Pancreatic Adenocarcinoma0.59
    3ERK Signaling
    Rho Family GTPases0.61
    Molecular Mechanisms of Cancer0.51
    ERK Signaling0.61
    ILK Signaling0.49
    MAPK Signaling0.58
    4Nanog in Mammalian ESC Pluripotency
    Nanog in Mammalian ESC Pluripotency0.61
    14-3-3 Induced Intracellular Signaling0.59
    GSK3 Signaling0.61
    eNOS Signaling0.48
    5TGF-Beta Pathway
    TGF-Beta Pathway0.60
    JAK-STAT Pathway0.57
    MAPK Family Pathway0.60
    JNK Pathway0.51

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for TBRG1 (see all 54)
        Nuclear Receptor Activation by Vitamin-A
    Paxillin Interactions
    Telomerase Components in Cell Signaling
    Mitochondrial Apoptosis
    Molecular Mechanisms of Cancer



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TBRG1
    Interactions:

        GeneGlobe Interaction Network for TBRG1

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for TBRG1 (Q3YBR23 ENSP000004090164) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MDM2Q009873, ENSP000004172814I2D: score=1 STRING: ENSP00000417281
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    CDKN2AENSP000003551534STRING: ENSP00000355153
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006260DNA replication IMP17110379
    GO:0007050cell cycle arrest IMP17110379
    GO:0008285negative regulation of cell proliferation IMP17110379
    GO:0032066nucleolus to nucleoplasm transport IDA17110379
    GO:0050821protein stabilization IMP17110379

    TBRG1 for ontologies           About GeneDecksing



    (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 TBRG1



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for TBRG1 gene: 
    NM_032811.2  

    Unigene Cluster for TBRG1:

    Transforming growth factor beta regulator 1
    Hs.436410  [show with all ESTs]
    Unigene Representative Sequence: NM_032811
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000473629 ENST00000530731 ENST00000531667 ENST00000284290(uc001qak.4 uc001qaj.4 uc009zbf.3 uc001qal.4 uc009zbh.3)
    ENST00000441174 ENST00000452080 ENST00000529543 ENST00000438907 ENST00000491010
    ENST00000531033 ENST00000375005
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat TBRG1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TBRG1 (see all 24):
    hsa-miR-185* hsa-miR-4251 hsa-miR-539 hsa-miR-188-5p hsa-miR-15a hsa-miR-888* hsa-miR-141* hsa-miR-424
    SwitchGear 3'UTR luciferase reporter plasmidTBRG1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for TBRG1
    Predesigned siRNA for gene silencing in human, mouse, rat TBRG1
    Clone
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    OriGene clones in human, mouse for TBRG1 (see all 11)
    OriGene ORF clones in mouse, rat for TBRG1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: TBRG1 (NM_032811)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TBRG1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TBRG1
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for TBRG1
    OriGene qSTAR qPCR primer pairs in human, mouse for TBRG1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TBRG1
      QuantiTect SYBR Green Assays in human, mouse, rat TBRG1
      QuantiFast Probe-based Assays in human, mouse, rat TBRG1

    Additional mRNA sequence: 

    AK027527.1 AK027766.1 AK057749.1 AK074140.1 AK074594.1 AK222936.1 AL713631.1 AL831881.1 
    AY696294.1 BC018452.1 BC032312.1 BC041043.1 BC064392.1 BC073160.1 BC107428.1 BC109269.2 
    DQ144542.1 NR_016021.1 

    20 DOTS entries:

    DT.100823605  DT.100823606  DT.100802387  DT.415670  DT.100037797  DT.65286898  DT.101983949  DT.95265897 
    DT.111748  DT.40131997  DT.409069  DT.95268947  DT.120747890  DT.100823609  DT.120747892  DT.95268949 
    DT.120747909  DT.86847505  DT.91645747  DT.92416461 

    Selected AceView cDNA sequences (see all 346):

    CB146378 CF593321 AI436211 BM742831 AI393016 CR603225 CR620045 AI197880 
    AK057749 AA731369 AI801041 BX104008 BC041043 AI915846 BQ574735 CR620586 
    AI092468 AK074140 AI435607 BG286461 AL045808 BI838497 AI633570 AW583698 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for TBRG1 (see all 8)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b
    SP1:                    -           -     -     -     -     -     -     -     -                                                   
    SP2:                                                                    -     -                                                   
    SP3:                                                              -     -     -                                                   
    SP4:                                                              -                                                               
    SP5:                                                                                                                              


    ECgene alternative splicing isoforms for TBRG1

    (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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    TBRG1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAAGGTCCTG
    TBRG1 Expression
    About this image


    TBRG1 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
     
     Bone (Muscoskeletal System)
             Rostral Skull Membranous Bones
     
     Cartilage (Muscoskeletal System)
             Meckel's Cartilage
    TBRG1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TBRG1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.436410

    UniProtKB/Swiss-Prot: TBRG1_HUMAN, Q3YBR2
    Tissue specificity: Widely expressed at low levels in most tissues, with highest levels in pancreas, lung and
    liver. Expression is decreased in primary tumors including lung, liver, breast, pancreas and kidney carcinomas,
    chronic lymphocytic leukemia and diffuse large B-cell lymphoma

        Custom PCR Arrays for TBRG1
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    QuantiTect SYBR Green Assays in human, mouse, rat TBRG1
    QuantiFast Probe-based Assays in human, mouse, rat TBRG1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBRG1

    (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 TBRG1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tbrg11 , 5 transforming growth factor beta regulated gene 11, 5 87.77(n)1
    85.22(a)1
      9 (20.79 cM)5
    213761  NM_025289.31  NP_079565.21 
     376491825 
    lizard
    (Anolis carolinensis)
    Reptilia TBRG16
    transforming growth factor beta regulator 1
    57(a)
    1 ↔ 1
    GL343279.1(488926-490351)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.73422 Xenopus laevis transcribed sequence with weak similarity more 75.38(n)    CA982487.1 
    zebrafish
    (Danio rerio)
    Actinopterygii tbrg11 transforming growth factor beta regulator 1 65.95(n)
    66.26(a)
      573117  NM_001114446.1  NP_001107918.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG311111 CG31111 49.37(n)
    41.87(a)
      318595  NM_170195.3  NP_733074.1 


    ENSEMBL Gene Tree for TBRG1 (if available)
    TreeFam Gene Tree for TBRG1 (if available)

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

    (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 TBRG1 (see all 309)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs776240211,2
    C,F--124490971(+) ACACAA/GGACTT 2 -- us2k12Minor allele frequency- G:0.06WA EA 238
    rs1481965291,2
    --124491065(+) TTGCAG/TTTCCC 2 -- us2k10--------
    rs1136179851,2
    C--124491113(+) CATGCC/TCCCCT 2 -- us2k10--------
    rs602607551,2
    C,F--124491116(+) GCCCCC/ACTTTG 2 -- us2k12Minor allele frequency- A:0.05WA 120
    rs1503835481,2
    --124491173(+) CAGATA/GTATCT 2 -- us2k10--------
    rs1875792101,2
    --124491200(+) CCTATC/GTCCTC 2 -- us2k10--------
    rs1902626421,2
    --124491225(+) TGCTGC/TCAAAT 2 -- us2k10--------
    rs760783731,2
    C,F--124491311(+) TTAAAT/CTAAGG 2 -- us2k12Minor allele frequency- C:0.03WA NA 238
    rs1820282811,2
    --124491415(+) GCACAA/CATATC 2 -- us2k10--------
    rs1857149321,2
    --124491482(+) TGGAAC/TTGACC 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for TBRG1 (124492732 - 124505822 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for TBRG1: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TBRG1
    DNA2.0 Custom Variant and Variant Library Synthesis for TBRG1

    (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: 610614    OMIM disorders: --

    9 diseases for TBRG1:    
    About MalaCards
    weill-marchesani syndrome    tracheal stenosis    diffuse large b-cell lymphoma    b-cell lymphomas
    chronic lymphocytic leukemia    adenocarcinoma    pancreatitis    leukemia
    breast cancer

    2 diseases from the University of Copenhagen DISEASES database for TBRG1:
    Weill-Marchesani syndrome     Tracheal stenosis

    TBRG1 for disorders           About GeneDecksing


    Export disorders for TBRG1 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 TBRG1 gene, integrated from 10 sources (see all 14):
    (articles sorted by number of sources associating them with TBRG1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel nuclear interactor of ARF and MDM2 (NIAM) that maintains chromosomal stability. (PubMed id 17110379)1, 2, 3 Tompkins V.S.... Quelle D.E. (J. Biol. Chem. 2007)
    2. The structure of the FYR domain of transforming growth factor beta regulator 1. (PubMed id 20506279)1, 2 Garcia-Alai M.M.... Bycroft M. (Protein Sci. 2010)
    3. Identification of novel ARF binding proteins by two-hybrid screening. (PubMed id 16582619)1, 2 Tompkins V.... Quelle D.E. (Cell Cycle 2006)
    4. 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)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. Modulation of gene expression in the preimplantation mouse embryo by TGF-alpha and TGF-beta. (PubMed id 7654366)1, 3 Babalola G.O. and Schultz R.M. (Mol. Reprod. Dev. 1995)
    7. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (Sci. Signal. 2010)
    8. Generation and characterization of monoclonal antibodies to NIAM: a nuclear interactor of ARF and Mdm2. (PubMed id 18582208)1 Hagen J....Quelle D.E. (Hybridoma (Larchmt) 2008)
    9. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
    10. A germline-specific class of small RNAs binds mammalian Piwi proteins. (PubMed id 16751776)1 Girard A....Carmell M.A. (Nature 2006)

    (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)
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    Entrez Gene: 84897 HGNC: 29551 AceView: TBRG1 Ensembl:ENSG00000154144 euGenes: HUgn84897
    ECgene: TBRG1 H-InvDB: TBRG1

    (According to HUGE)
    About This Section

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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 TBRG1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TBRG1 Genetics and Cytogenetics in Oncology and Haematology

    (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 TBRG1 gene:
    Search GeneIP for patents involving TBRG1

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



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