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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TBX1 Gene

protein-coding   GIFtS: 61
GCID: GC22P019747

T-box 1
 Explore 24 diseases affiliated with
TBX1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for TBX1    

Aliases
for TBX1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
T-Box 11 2     TGA2 5
Testis-Specific T-Box Protein2 3     VCFS2 5
CAFS2 5     TBX1C2
CTHM2 5     Brachyury1
DGCR2 5     T-Box 1 Transcription Factor C2
DGS2 5     T-Box Transcription Factor TBX12
DORV2 5     T-Box Protein 13

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


Summaries
for TBX1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for TBX1:
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)

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)




Genomic Views
for TBX1 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NC_018933.1  NT_011519.10  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TBX1 gene promoter:
         STAT3   c-Jun   Nkx2-5   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: TBX1 promoter sequence
   Search SABiosciences Chromatin IP Primers for TBX1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for TBX1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: TBX1_HUMAN, O43435 (See protein sequence)
Recommended Name: T-box transcription factor TBX1  
Size: 398 amino acids; 43133 Da
Subcellular location: Nucleus (Potential)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O43435

    • TBX1 Protein expression data from MOPED and PaxDb:    About this image 
    TBX1 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_005983.1  NP_542377.1  NP_542378.1  

    ENSEMBL proteins: 
     ENSP00000331791   ENSP00000331176   ENSP00000352483  

    Human Recombinant Protein Products for TBX1: 
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    OriGene Purified Protein: TBX1
    OriGene Protein Over-expression Lysate (see all 2): TBX1
    OriGene Custom Protein Services for TBX1 
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    Novus Biologicals TBX1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for TBX1

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA15703190

    TBX1 for ontologies           About GeneDecksing



    TBX1 Antibody Products: 
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    ThermoFisher Antibodies for TBX1

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    Uscn ELISAs and CLIAs for TBX1

    Protein Domains /
    Families
    for TBX1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    TBX1 for domains           About GeneDecksing

    3 InterPro domains/families:
     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 family: IPB001699 Transcription factor

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


    Function
    for TBX1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    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): 5/6 molecular function terms (GO ID links to tree view) (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:
         15/20 MGI mutant phenotypes (inferred from 18 alleles) (MGI details for Tbx1) (see all 20):
     behavior/neurological  cardiovascular system  cellular  craniofacial  digestive/alimentary 
     embryogenesis  endocrine/exocrine gland  growth/size  hearing/vestibular/ear  hematopoietic system 
     homeostasis/metabolism  immune system  integument  limbs/digits/tail  mortality/aging 

    TBX1 for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-outs for TBX1: Tbx1tm1.2Bem Tbx1tm1Rak Tbx1tm1Pa Tbx1tm1.1Dsr Tbx1tm3.1Bld
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for TBX1 

    miRNA
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    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TBX1
    8/10 QIAGEN miScript miRNA 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 plasmid: TBX1 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TBX1 (see all 7)
    OriGene shRNA RFP: TBX1
    OriGene siRNA: TBX1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TBX1
    Sirion Biotech Custom design and validation of potent shRNA sequences against TBX1 

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for TBX1
    Sirion Biotech Customized adenovirus for overexpression of TBX1 
    Sirion Biotech Customized adenovirus for potent knockdown of TBX1

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TBX1 (see all 5)
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    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
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    Cell Line
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    Search LifeMap BioReagents cell lines for TBX1
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    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBX1


    Pathways & Interactions
    for TBX1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Heart Development
    		Heart Development1.00


    1 BioSystems Pathway for TBX1 
        Heart Development


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins 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): 5/63 biological process terms (GO ID links to tree view) (see all 63):    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



    Drugs & Compounds
    for TBX1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TBX1
    Search CenterWatch for drugs/clinical trials and news about TBX1 

    Transcripts
    for TBX1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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:             		 OriGene 3'-UTR Clone (see all 3): TBX1
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TBX1
    8/10 QIAGEN miScript miRNA 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 plasmid: TBX1 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TBX1 (see all 7)
    OriGene shRNA RFP: TBX1
    OriGene siRNA: TBX1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TBX1
    Sirion Biotech Custom design and validation of potent shRNA sequences against TBX1 
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TBX1 (see all 5)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TBX1 (see all 3)
    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 genome-wide validated SYBR primer pairs in human, mouse, rat for TBX1
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat TBX1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TBX1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TBX1

    Additional cDNA sequence: 

    AF012130.1 AF012131.1 AF373867.1 

    5 DOTS entries:

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

    24/30 AceView cDNA sequences (see all 30):

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

    GeneLoc Exon Structure


    Expression
    for TBX1 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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

    TBX1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    10/17 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 17) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Head MesenchymeBranchial Arch 1Paraxial Mesoderm CellsBone, Skeletal Muscle
    Head MesenchymeBranchial Arch 2Paraxial Mesoderm CellsSkeletal Muscle
    Head MesenchymeHead MesenchymeParaxial Mesoderm CellsBone, Skeletal Muscle
    HeartCardiac CrescentCardiac Crescent CellsMyocardium
    HeartMyocardiumCardiomyocytesMyocardium
    HeartOutflow TractCardiomyocytesMyocardium
    Skeletal MuscleHyoid Arch MusclesMuscle Progenitor CellsSkeletal Muscle
    Skeletal MuscleMandibular Arch MusclesMuscle Progenitor CellsSkeletal Muscle
    Head MesenchymePrechordal MesenchymePrechordal Mesoderm CellsSkeletal Muscle
    HeartPrimitive Heart TubePrimitive Heart Tube CellsMyocardium
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    Anterior foregut endoderm like cells (Efficient derivation...)
    Primitive gut tube-like cells (A scalable, suspensi...)

    See TBX1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TBX1

    SOURCE GeneReport for Unigene cluster: Hs.173984
        SABiosciences Custom PCR Arrays for TBX1
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    QIAGEN 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
    for TBX1 gene

    (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)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for TBX1 gene from 4/15 species (see all 15)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    Protein MLS-11    		 49(a)3
    53.87(n)1
    56.57(a)1    		   II(516155-521443)3
    1867411  NM_066239.21  NP_498640.11 


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

    Paralogs
    for TBX1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TBX1 gene
    TBX222  TBX192  T2  EOMES2  TBX22  TBX62  TBX212  TBX32  
    TBX202  TBX52  TBX102  TBX42  TBR12  TBX152  TBX182  
    12 SIMAP similar genes for TBX1 using alignment to 3 protein entries:     TBX1_HUMAN (see all proteins):
    TBX10    TBX5    TBX4    T    MGA    DKFZp762H2012
    TBX18    TBX2    TBX15    TBX20    TBX22    TBX6

    TBX1 for paralogs           About GeneDecksing



    Genomic Variants
    for TBX1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/593 NCBI SNPs in TBX1 are shown (see all 593)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 22 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs289396751,2
    		Cpathogenic19750796(+) GCTCTA/TCGGCA 6 Y F mis1 ese30--------
    rs743155221,2
    		Cpathogenic19751747(+) GTGCAC/GTACCA 6 H Q mis10--------
    rs412988381,2
    		C,Fpathogenic19753444(+) GGCCCG/AGCGCA 6 /S /G mis17Minor allele frequency- A:0.00NS NA 886
    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
    rs412986171,2
    		C,F--19742610(+) AGCCCC/TCAGTT 3 -- us2k18Minor allele frequency- T:0.01NS CSA WA 860
    rs412986191,2
    		C,F--19742664(+) GCACAG/CAGGGA 3 -- us2k16Minor allele frequency- C:0.03NS WA 308

    HapMap Linkage Disequilibrium report for TBX1 (19744226 - 19771116 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 4 variations for TBX1
         3 CNVs: 30150 8901 31071
         1 Indel: 73718
    Human Gene Mutation Database (HGMD): TBX1

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    Disorders / Diseases
    for TBX1 gene

    (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.)
    About This Section
    TBX1 for disorders           About GeneDecksing

    OMIM gene information: 602054   
    OMIM disorders: 217095  188400  192430  
    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
  • Defects in TBX1 are a cause of DiGeorge syndrome (DGS) [MIM:188400]
  • Defects in TBX1 are a cause of velocardiofacial syndrome (VCFS) [MIM:192430]
  • Defects in TBX1 are a cause of conotruncal heart malformations (CTHM) [MIM:217095]. CTHM consist of cardiac
    • outflow tract defects, such as tetralogy of Fallot, pulmonary atresia, double-outlet right ventricle, truncus
    arteriosus communis, and aortic arch anomalies

    20/24 diseases for TBX1 (see all 24):    About MalaCards
    digeorge syndrome    velocardiofacial syndrome    double outlet right ventricle    conotruncal anomaly face syndrome
    ulnar-mammary syndrome    atrioventricular septal defect    conotruncal heart malformations    patent ductus arteriosus
    pervasive developmental disorder    faces syndrome    learning disability    gerstmann syndrome
    congenital heart defect    tetralogy of fallot    pulmonary embolism    dextrocardia
    intellectual disability    hypoparathyroidism    chordoma    osteoporosis

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

    10/11 Novoseek 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
    22q11.2 Deletion Syndrome

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

    Export disorders for TBX1 gene to outside databases

    Publications
    for TBX1 gene

    (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)
    About This Section

    PubMed articles for TBX1 gene, integrated from 9 sources (see all 80):
    (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. (1997)
    2. 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. (2007)
    3. Allelic variations at the haploid TBX1 locus do not influence the cardiac phenotype in cases of 22q11 microdeletion. (PubMed id 15337468)1, 4 Voelckel M.A....Philip N. (2004)
    4. Role of TBX1 in human del22q11.2 syndrome. (PubMed id 14585638)1, 2 Yagi H.... Matsuoka R. (2003)
    5. Single nucleotide polymorphism discovery in TBX1 in i ndividuals with and without 22q11.2 deletion syndrome. (PubMed id 19645056)1, 9 Heike C.L....Crawford D.C. (2010)
    6. TBX1 gene mutation screening in patients with non-syndromic Fallot tetralogy. (PubMed id 17479646)1, 9 Cabuk F....Tukun A. (2007)
    7. Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome. (PubMed id 16684884)1, 9 Paylor R....Lindsay E. (2006)
    8. Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility factor for mental retardation. (PubMed id 17377518)1, 9 Torres-Juan L....Heine-Suner D. (2007)
    9. [Single nucleotide polymorphism and haplotype in TBX1 gene of patients with conotruncal defects: analysis of 130 cases] (PubMed id 16854283)1, 9 Han X.M....Sun Y.X. (2006)
    10. Differential DNA binding and transcription modulation by three T-box proteins, T, TBX1 and TBX2. (PubMed id 11111039)1, 9 Sinha S....Campbell C.E. (2000)

    External Searches for TBX1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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    Genome Databases showing TBX1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6899 HGNC: 11592 AceView: TBX1 Ensembl:ENSG00000184058 euGenes: HUgn6899
    ECgene: TBX1 H-InvDB: TBX1

    Other Databases showing TBX1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing TBX1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TBX1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TBX1 Genetics and Cytogenetics in Oncology and Haematology

    Intellectual Property
    for TBX1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for TBX1 gene:
    Search GeneIP for patents involving TBX1

    GeneCards and IP:
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    About This Section

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