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TBX1 Gene

protein-coding   GIFtS: 61
GCID: GC22P019747

T-Box 1

(Previous name: velocardiofacial syndrome)
(Previous symbol: VCF)
  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
T-Box 11 2     VCFS2 5
VCF1 2     Velocardiofacial Syndrome1
Testis-Specific T-Box Protein2 3     CATCH222
CAFS2 5     TBX1C2
CTHM2 5     brachyury2
DGCR2 5     T-Box 1 Transcription Factor C2
DGS2 5     T-Box Transcription Factor TBX12
DORV2 5     T-Box Protein 13
TGA2 5     

External Ids:    HGNC: 115921   Entrez Gene: 68992   Ensembl: ENSG000001840587   OMIM: 6020545   UniProtKB: O434353   

Export aliases for TBX1 gene to outside databases

Previous GC identifers: GC22P016684 GC22P018118 GC22P003364


(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 TBX1 Gene:
This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the
T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene
product shares 98% amino acid sequence identity with the mouse ortholog. DiGeorge syndrome (DGS)/velocardiofacial
syndrome (VCFS), a common congenital disorder characterized by neural-crest-related developmental defects, has
been associated with deletions of chromosome 22q11.2, where this gene has been mapped. Studies using mouse models
of DiGeorge syndrome suggest a major role for this gene in the molecular etiology of DGS/VCFS. Several
alternatively spliced transcript variants encoding different isoforms have been described for this gene.
(provided by RefSeq, Jul 2008)

GeneCards Summary for TBX1 Gene:
TBX1 (T-box 1) is a protein-coding gene. Diseases associated with TBX1 include velocardiofacial syndrome, and gerstmann syndrome. GO annotations related to this gene include sequence-specific DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is TBX22.

UniProtKB/Swiss-Prot: TBX1_HUMAN, O43435
Function: Probable transcriptional regulator involved in developmental processes. Is required for normal
development of the pharyngeal arch arteries (By similarity)




(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_000022.11  NT_011520.13  NC_018933.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TBX1 gene promoter:
         STAT3   c-Jun   Nkx2-5   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTBX1 promoter sequence
   Search Chromatin IP Primers for TBX1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TBX1


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

Entrez Gene cytogenetic band: 22q11.21   Ensembl cytogenetic band:  22q11.21   HGNC cytogenetic band: 22q11.21

TBX1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TBX1 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P019747:  view genomic region     (about GC identifiers)

Start:
19,744,226 bp from pter      End:
19,771,116 bp from pter
Size:
26,891 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: TBX1_HUMAN, O43435 (See protein sequence)
Recommended Name: T-box transcription factor TBX1  
Size: 398 amino acids; 43133 Da
Subunit: Interacts with DSCR6 (By similarity)
1 PDB 3D structure from and Proteopedia for TBX1:
4A04 (3D)    
Secondary accessions: C6G493 C6G494 O43436 Q96RJ2
Alternative splicing: 3 isoforms:  O43435-1   O43435-2   O43435-3   

Explore the universe of human proteins at neXtProt for TBX1: NX_O43435

Explore proteomics data for TBX1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See TBX1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_005983.1  NP_542377.1  NP_542378.1  

    ENSEMBL proteins: 
     ENSP00000331791   ENSP00000331176   ENSP00000352483  

    TBX1 Human Recombinant Protein Products:

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    Novus Biologicals TBX1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for TBX1

    TBX1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of TBX1
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    LSBio Antibodies in human, mouse, rat for TBX1

    TBX1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for TBX1
    Cloud-Clone Corp. CLIAs for TBX1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    TBX: T-boxes

    3 InterPro protein domains:
     IPR001699 TF_T-box
     IPR008967 p53-like_TF_DNA-bd
     IPR018186 TF_T-box_CS

    Graphical View of Domain Structure for InterPro Entry O43435

    ProtoNet protein and cluster: O43435

    1 Blocks protein domain: IPB001699 Transcription factor

    UniProtKB/Swiss-Prot: TBX1_HUMAN, O43435
    Similarity: Contains 1 T-box DNA-binding domain


    TBX1 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: TBX1_HUMAN, O43435
    Function: Probable transcriptional regulator involved in developmental processes. Is required for normal
    development of the pharyngeal arch arteries (By similarity)

         Genatlas biochemistry entry for TBX1:
    murine T-box gene Tbx1 (T,brachyury) homolog,expressed in the lateral plate mesoderm,the branchial arches,the otic
    vesicles and the optic cup

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IDA17273972
    GO:0003700NOT sequence-specific DNA binding transcription factor activity IDA11111039
    GO:0005515protein binding ----
    GO:0042803protein homodimerization activity IDA11111039
    GO:0043565sequence-specific DNA binding IDA11111039
         
    TBX1 for ontologies           About GeneDecksing


    Phenotypes:
         Selected MGI mutant phenotypes (inferred from 19 alleles(MGI details for Tbx1) (see all 20):
     behavior/neurological  cardiovascular system  cellular  craniofacial  digestive/alimentary 
     embryogenesis  endocrine/exocrine gland  growth/size/body  hearing/vestibular/ear  hematopoietic system 
     homeostasis/metabolism  immune system  integument  limbs/digits/tail  mortality/aging 

    TBX1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for TBX1: Tbx1tm2.2Bem Tbx1tm1Bem Tbx1tm1Pa Tbx1tm1.1Dsr Tbx1tm3.1Bld

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TBX1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TBX1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TBX1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TBX1

    Transcription Factor Targeting: 
    Selected GeneGlobe predicted Target genes for TBX1 (see all 445):
    AADACL2,  ABCC13,  ABL2,  ACTG2,  ACVR1,  ACVR1B,  ACYP1,  ADAM23,  ADARB2,  AGPAT9

    miRNA
    Products:
        
    miRTarBase miRNAs that target TBX1:
    hsa-mir-484 (MIRT041674), hsa-mir-744-5p (MIRT037556), hsa-mir-1180-3p (MIRT035924)

    Block miRNA regulation of human, mouse, rat TBX1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TBX1 (see all 10):
    hsa-miR-185* hsa-miR-139-5p hsa-miR-1271 hsa-miR-451 hsa-miR-583 hsa-miR-3667-3p hsa-miR-182 hsa-miR-144
    SwitchGear 3'UTR luciferase reporter plasmidTBX1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for TBX1
    Predesigned siRNA for gene silencing in human, mouse, rat TBX1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for TBX1

    Clone
    Products:
         
    OriGene clones in human, mouse for TBX1 (see all 16)
    OriGene ORF clones in mouse, rat for TBX1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): TBX1 (NM_080646)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TBX1
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat TBX1

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for TBX1
    Browse ESI BIO Cell Lines and PureStem Progenitors for TBX1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBX1


    (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
    TBX1_HUMAN, O43435: Nucleus (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytoskeleton2
    cytosol2
    extracellular2
    mitochondrion1
    plasma membrane1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA15703190

    TBX1 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 TBX1 About    
    See pathways by source

    SuperPathContained pathways About
    1Heart Development
    Heart Development


    1 BioSystems Pathway for TBX1
        Heart Development


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TBX1
    Interactions:

        GeneGlobe Interaction Network for TBX1

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    3 Interacting proteins for TBX1 (O434353 ENSP000003317914) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TERF1P542743, ENSP000002766034I2D: score=1 STRING: ENSP00000276603
    TERF2Q155543, ENSP000002549424I2D: score=1 STRING: ENSP00000254942
    ASH2LQ9UBL33I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 64):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001525angiogenesis ISS--
    GO:0001568blood vessel development ISS--
    GO:0001708cell fate specification ISS--
    GO:0001755neural crest cell migration ISS--
    GO:0001934positive regulation of protein phosphorylation ISS--

    TBX1 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 TBX1



    (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,
    Conferences by KenesGroup, 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 TBX1 gene (3 alternative transcripts): 
    NM_005992.1  NM_080646.1  NM_080647.1  

    Unigene Cluster for TBX1:

    T-box 1
    Hs.173984  [show with all ESTs]
    Unigene Representative Sequence: AF373867
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000332710(uc002zqa.1) ENST00000329705(uc002zqb.3) ENST00000359500(uc002zqc.3)
    ENST00000475303 ENST00000484336
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat TBX1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TBX1 (see all 10):
    hsa-miR-185* hsa-miR-139-5p hsa-miR-1271 hsa-miR-451 hsa-miR-583 hsa-miR-3667-3p hsa-miR-182 hsa-miR-144
    SwitchGear 3'UTR luciferase reporter plasmidTBX1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for TBX1
    Predesigned siRNA for gene silencing in human, mouse, rat TBX1
    Clone
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    OriGene clones in human, mouse for TBX1 (see all 16)
    OriGene ORF clones in mouse, rat for TBX1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): TBX1 (NM_080646)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TBX1
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat TBX1
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for TBX1
    OriGene qSTAR qPCR primer pairs in human, mouse for TBX1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TBX1
      QuantiTect SYBR Green Assays in human, mouse, rat TBX1
      QuantiFast Probe-based Assays in human, mouse, rat TBX1

    Additional mRNA sequence: 

    AF012130.1 AF012131.1 AF373867.1 

    5 DOTS entries:

    DT.40197045  DT.95163047  DT.95163048  DT.91678802  DT.75120814 

    Selected AceView cDNA sequences (see all 30):

    AF012130 BE468028 NM_005992 NM_080647 AF373867 BM977495 AI016780 AF012131 
    BF434697 AI828936 AI198532 NM_080646 BE328069 AJ346433 BE218311 AW295963 
    AI287678 BX101417 AI802713 H55663 BF115770 BG149355 AA904338 BF513123 

    GeneLoc Exon Structure


    (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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    TBX1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAGATACTGT
    TBX1 Expression
    About this image


    TBX1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 9 entries
             Muscle Progenitor Cells Mandibular Arch Muscles
     
     Heart (Cardiovascular System)    fully expand to see all 5 entries
             Cardiac Crescent Cells Cardiac Crescent
     
     Head Mesenchyme (Muscoskeletal System)    fully expand to see all 4 entries
             Paraxial Mesoderm Cells Head Mesenchyme
     
     Bone (Muscoskeletal System)    fully expand to see all 3 entries
             Paraxial Mesoderm Cells Head Mesenchyme
             Mandibular Process
     
     Epithelial Cells
             Outer Root Sheath Cells Outer Root Sheath
    TBX1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TBX1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.173984
        Custom PCR Arrays for TBX1
    Primer
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    OriGene qPCR primer pairs and template standards for TBX1
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    QuantiFast Probe-based Assays in human, mouse, rat TBX1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBX1

    (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 TBX1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tbx11 , 5 T-box 11, 5 85.96(n)1
    91.63(a)1
      16 (11.51 cM)5
    213801  NM_011532.21  NP_035662.11 
     185817135 
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.216612 Xenopus laevis T-box transcription factor (Tbx1) mRNA, more 78.66(n)    AF526274.1 
    zebrafish
    (Danio rerio)
    Actinopterygii tbx12 T-box 1 74.88(n)   368206  AY151388.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta org-13 transcription factor 70(a)
    (best of 2)
        --
    worm
    (Caenorhabditis elegans)
    Secernentea mab-93
    mls-11
    transcription regulator3
    mls-11
    49(a)3
    53.54(n)1
    56.48(a)1
      II(516155-521443)3
    1867411  NM_066239.31  NP_498640.11 


    ENSEMBL Gene Tree for TBX1 (if available)
    TreeFam Gene Tree for TBX1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TBX1 gene
    TBX222  TBX192  T2  TBX22  TBX62  TBX202  TBX32  TBX52  
    TBX152  TBX102  TBX42  TBX182  
    12 SIMAP similar genes for TBX1 using alignment to 3 protein entries:     TBX1_HUMAN (see all proteins):
    TBX10    TBX4    TBX18    T    TBX5    MGA
    DKFZp762H2012    TBX2    TBX15    TBX20    TBX22    TBX6

    TBX1 for paralogs           About GeneDecksing



    (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 TBX1 (see all 730)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289396751,2,,4
    CVelocardiofacial syndrome (VCFS)4 pathogenic119750796(+) GCTCTA/TCGGCA 6 Y F mis1 ese30--------
    rs412988381,2,,4
    C,FDiGeorge syndrome (DGS)4 pathogenic119753444(+) GGCCCG/AGCGCA 6 /S /G mis17Minor allele frequency- A:0.00NS NA 886
    VAR_0360654
    A colorectal cancer sample4--see VAR_0360652 G E mis40--------
    VAR_0350264
    Velocardiofacial syndrome (VCFS)4--see VAR_0350262 H Q mis40--------
    rs743155221,2
    Cpathogenic119751747(+) GTGCAC/GTACCA 6 H Q mis10--------
    rs1832481001,2
    --19742274(+) GAACAC/TGTGGG 3 -- us2k10--------
    rs119142771,2
    C,H--19742363(+) GCAGTG/TGGACC 3 -- us2k10--------
    rs1122807291,2
    F--19742457(+) GTTTGC/TGGTGG 3 -- us2k11Minor allele frequency- T:0.00NS 538
    rs726469351,2
    C,F--19742493(+) AATGCG/ACCCTG 3 -- us2k12Minor allele frequency- A:0.01NS 1190
    rs412986151,2
    C,F--19742522(+) TAGACC/TGCTTC 3 -- us2k18Minor allele frequency- T:0.02NS EA 1508

    HapMap Linkage Disequilibrium report for TBX1 (19744226 - 19771116 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for TBX1 (see all 23):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv435744CNV Deletion17901297
    dgv4845n71CNV Loss21882294
    nsv471181CNV Loss18288195
    nsv828943CNV Loss20364138
    nsv914279CNV Loss21882294
    nsv517478CNV Loss19592680
    dgv4841n71CNV Loss21882294
    esv21705CNV Loss19812545
    nsv828948CNV Loss20364138
    nsv914288CNV Loss21882294

    Human Gene Mutation Database (HGMD): TBX1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TBX1
    DNA2.0 Custom Variant and Variant Library Synthesis for TBX1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602054   
    OMIM disorders: 217095  188400  192430  187500  
    UniProtKB/Swiss-Prot: TBX1_HUMAN, O43435
  • Note=Haploinsufficiency of the TBX1 gene is responsible for most of the physical malformations present in
    DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS). DGS is characterized by the association of several
    malformations: hypoplastic thymus and parathyroid glands, congenital conotruncal cardiopathy, and a subtle but
    characteristic facial dysmorphology. VCFS is marked by the association of congenital conotruncal heart defects,
    cleft palate or velar insufficiency, facial dysmorpholgy and learning difficulties. It is now accepted that these
    two syndromes represent two forms of clinical expression of the same entity manifesting at different stages of
    life
  • DiGeorge syndrome (DGS) [MIM:188400]: A congenital syndrome characterized by a wide spectrum of
    characteristics including parathyroid hypoplasia resulting in hypocalcemia, thymic hypoplasia resulting in T-cell
    immunodeficiency, defects in the outflow tract of the heart, and craniofacial anomalies. Disturbance of cervical
    neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype.
    Note=The disease is caused by mutations affecting the gene represented in this entry
  • Velocardiofacial syndrome (VCFS) [MIM:192430]: A syndrome characterized by abnormal pharyngeal arch
    development that results in defective development of the parathyroid glands, thymus, and conotruncal region of
    the heart. The phenotype is highly variable, with no single clinical feature present in every patient. Affected
    individuals may present with structural or functional palatal abnormalities, cardiac defects, unique facial
    characteristics, hypernasal speech, hypotonia, and defective thymic development associated with impaired immune
    function. In addition, affected individuals may present with learning disabilities, overt developmental delay,
    and psychiatric disorders. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Conotruncal heart malformations (CTHM) [MIM:217095]: A group of congenital heart defects involving the
    outflow tracts. Examples include truncus arteriosus communis, double-outlet right ventricle and transposition of
    great arteries. Truncus arteriosus communis is characterized by a single outflow tract instead of a separate
    aorta and pulmonary artery. In transposition of the great arteries, the aorta arises from the right ventricle and
    the pulmonary artery from the left ventricle. In double outlet of the right ventricle, both the pulmonary artery
    and aorta arise from the right ventricle. Note=The disease is caused by mutations affecting the gene represented
    in this entry

  • Selected diseases for TBX1 (see all 37):    
    About MalaCards
    velocardiofacial syndrome    gerstmann syndrome    22q11.2 duplication    digeorge syndrome
    ebstein anomaly    holt-oram syndrome    faces syndrome    conotruncal heart malformations
    ulnar-mammary syndrome    dextrocardia    tetralogy of fallot    double outlet right ventricle
    atrioventricular septal defect    pervasive developmental disorder    ventricular septal defect    learning disability
    pharyngitis    congenital heart defect    patent ductus arteriosus    hypoparathyroidism

    12 diseases from the University of Copenhagen DISEASES database for TBX1:
    Velocardiofacial syndrome     DiGeorge syndrome     Ventricular septal defect     Tetralogy of Fallot
    Cleft palate     Schizophrenia     Patent ductus arteriosus     Carcinoma
    Osteoporosis     Hypoparathyroidism     Ebstein anomaly     Pulmonary embolism

    TBX1 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for TBX1 gene (see all 11)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    digeorge syndrome 94.7 10 12005433 (1), 9405660 (1), 15096950 (1), 18572158 (1) (see all 10)
    velocardiofacial syndrome 91.8 7 17343559 (1), 17916582 (1), 15788257 (1), 18314073 (1) (see all 7)
    velo-cardio-facial syndrome 90 5 15098232 (1), 8950408 (1), 18314073 (1), 9598310 (1) (see all 5)
    holt-oram syndrome 69.6 1 12005433 (1)
    heart defects congenital 55.3 2 15060116 (1), 18314073 (1)
    hypoplasia 42.2 2 11709542 (1), 19745164 (1)
    genetic disorder 36.9 2 12005433 (1), 9809261 (1)
    schizophrenia 22.5 1 17343558 (1)
    bipolar disorder 14.9 2 17343558 (2)
    mental retardation 13.1 2 17377518 (2)

    GeneTests: TBX1
    GeneReviews: TBX1
    Genetic Association Database (GAD): TBX1
    Human Genome Epidemiology (HuGE) Navigator: TBX1 (13 documents)

    Export disorders for TBX1 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 TBX1 gene, integrated from 10 sources (see all 87):
    (articles sorted by number of sources associating them with TBX1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation and characterization of a gene from the DiGeorge chromosomal region homologous to the mouse Tbx1 gene. (PubMed id 9268629)1, 2, 3, 9 Chieffo C.... Budarf M.L. (Genomics 1997)
    2. Single nucleotide polymorphism discovery in TBX1 in individuals with and without 22q11.2 deletion syndrome. (PubMed id 19645056)1, 4, 9 Heike C.L....Crawford D.C. (Birth Defects Res. Part A Clin. Mol. Teratol. 2010)
    3. TBX1 gene mutation screening in patients with non-syndromic Fallot tetralogy. (PubMed id 17479646)1, 4, 9 Cabuk F....TA1kA1n A. (Turk. J. Pediatr. 2007)
    4. [Single nucleotide polymorphism and haplotype in TBX1 gene of patients with conotruncal defects: analysis of 130 cases]. (PubMed id 16854283)1, 4, 9 Han X.M....Sun Y.X. (Zhonghua Yi Xue Za Zhi 2006)
    5. Understanding velocardiofacial syndrome: how recent discoveries can help you improve your patient outcomes. (PubMed id 23000736)1, 3 Chinnadurai S. and Goudy S. (amp 2012)
    6. Family-based analysis of genetic variation underlying psychosis-inducing effects of cannabis: sibling analysis and proband follow-up. (PubMed id 21041608)1, 4 van Winkel R. (Arch. Gen. Psychiatry 2011)
    7. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (PLoS ONE 2010)
    8. Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot. (PubMed id 19948535)1, 4 Rauch R....Rauch A. (J. Med. Genet. 2010)
    9. Determination of genetic predisposition to patent ductus arteriosus in preterm infants. (PubMed id 19336370)1, 4 Dagle J.M....Murray J.C. (Pediatrics 2009)
    10. Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions. (PubMed id 17273972)1, 2 Zweier C.... Rauch A. (Am. J. Hum. Genet. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Aliases
    Disorders
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      Query String
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    OMIM
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 6899 HGNC: 11592 AceView: TBX1 Ensembl:ENSG00000184058 euGenes: HUgn6899
    ECgene: TBX1 H-InvDB: TBX1

    (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 TBX1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TBX1 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 TBX1 gene:
    Search GeneIP for patents involving TBX1

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



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