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    TBX1 T-box 1 [ Homo sapiens (human) ]

    Gene ID: 6899, updated on 16-Jun-2016
    Official Symbol
    TBX1provided by HGNC
    Official Full Name
    T-box 1provided by HGNC
    Primary source
    HGNC:HGNC:11592
    See related
    Ensembl:ENSG00000184058 HPRD:09069; MIM:602054; Vega:OTTHUMG00000150421
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DGS; TGA; VCF; CAFS; CTHM; DGCR; DORV; VCFS; TBX1C; CATCH22
    Summary
    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]
    Orthologs
    Location:
    22q11.21
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 22 NC_000022.11 (19756703..19783593)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (19744226..19771116)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene SEPT5-GP1BB readthrough Neighboring gene uncharacterized LOC105372861 Neighboring gene glycoprotein Ib platelet beta subunit Neighboring gene ribosomal protein L7a pseudogene 70 Neighboring gene G protein subunit beta 1 like Neighboring gene chromosome 22 open reading frame 29

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Conotruncal heart malformations
    MedGen: C1857586 OMIM: 217095 GeneReviews: Not available
    Compare labs
    DiGeorge sequence
    MedGen: C0012236 OMIM: 188400 GeneReviews: 22q11.2 Deletion Syndrome
    Compare labs
    Shprintzen syndrome
    MedGen: C0220704 OMIM: 192430 GeneReviews: 22q11.2 Deletion Syndrome
    Compare labs
    Tetralogy of Fallot
    MedGen: C0039685 OMIM: 187500 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2012-03-22)

    ClinGen Genome Curation Page
    Haploinsufficency

    Some evidence for dosage pathogenicity (Last evaluated (2012-03-22)

    ClinGen Genome Curation PagePubMed

    NHGRI GWAS Catalog

    Description
    A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.
    NHGRI GWA Catalog
    GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association.
    NHGRI GWA Catalog
    • Heart Development, organism-specific biosystem (from WikiPathways)
      Heart Development, organism-specific biosystemThis pathway has been largely adapted from an article by Deepak Srivastava, Cell. 2006 Sep 22;126(6):1037-48. In this pathway are known transcription factors, miRNAs and regulatory proteins that impa...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT transcription factor activity, sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    angiogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    anterior/posterior pattern specification ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    aorta morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    artery morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    blood vessel development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    blood vessel morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cell fate specification ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular response to fibroblast growth factor stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular response to retinoic acid ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cochlea morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    coronary artery morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    determination of left/right symmetry ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    ear morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    embryonic cranial skeleton morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    embryonic viscerocranium morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enamel mineralization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    epithelial cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    face morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    heart development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    heart morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    inner ear morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    lymph vessel development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    mesenchymal cell apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    mesoderm development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    middle ear morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    muscle cell fate commitment ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    muscle organ development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    muscle organ morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    muscle tissue morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of mesenchymal cell apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    neural crest cell migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    odontogenesis of dentin-containing tooth ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    outer ear morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    outflow tract morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    outflow tract septum morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    parathyroid gland development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    pattern specification process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    pharyngeal system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of MAPK cascade ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of epithelial cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of mesenchymal cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of protein phosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of tongue muscle cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of transcription from RNA polymerase II promoter ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of transcription, DNA-templated ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of organ morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of transcription from RNA polymerase II promoter ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of transcription from RNA polymerase II promoter NAS
    Non-traceable Author Statement
    more info
    PubMed 
    retinoic acid receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    semicircular canal morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    sensory perception of sound ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    social behavior ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    soft palate development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    thymus development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    thyroid gland development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    tongue morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    vagus nerve morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    T-box transcription factor TBX1
    Names
    T-box 1 transcription factor C
    Testis-specific T-box protein
    brachyury

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009229.1 RefSeqGene

      Range
      5001..31891
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_226

    mRNA and Protein(s)

    1. NM_005992.1NP_005983.1  T-box transcription factor TBX1 isoform B

      See identical proteins and their annotated locations for NP_005983.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (B) contains an alternate exon 9 and an additional exon 10 compared to variant C. It encodes an isoform (B) with the same N-terminal 336 aa, but an unique C-terminus with respect to isoforms A and C.
      Source sequence(s)
      AF012131
      Consensus CDS
      CCDS13765.1
      UniProtKB/Swiss-Prot
      O43435
      UniProtKB/TrEMBL
      Q152R5
      Related
      ENSP00000352483, OTTHUMP00000197322, ENST00000359500, OTTHUMT00000318032
      Conserved Domains (1) summary
      cd00182
      Location:109299
      TBOX; T-box DNA binding domain of the T-box family of transcriptional regulators. The T-box family is an ancient group that appears to play a critical role in development in all animal species. These genes were uncovered on the basis of similarity to the DNA ...
    2. NM_080646.1NP_542377.1  T-box transcription factor TBX1 isoform A

      See identical proteins and their annotated locations for NP_542377.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (A) contains an alternate exon 9 compared to variant C, resulting in an isoform (A) with the same N-terminal 336 aa, but an unique C-terminus with respect to isoforms B and C.
      Source sequence(s)
      AF012130
      Consensus CDS
      CCDS13766.1
      UniProtKB/Swiss-Prot
      O43435
      Related
      ENSP00000331176, OTTHUMP00000197323, ENST00000329705, OTTHUMT00000318033
      Conserved Domains (1) summary
      cd00182
      Location:109299
      TBOX; T-box DNA binding domain of the T-box family of transcriptional regulators. The T-box family is an ancient group that appears to play a critical role in development in all animal species. These genes were uncovered on the basis of similarity to the DNA ...
    3. NM_080647.1NP_542378.1  T-box transcription factor TBX1 isoform C

      See identical proteins and their annotated locations for NP_542378.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (C) encodes the longest isoform (C) with the same N-terminal 336 aa, but an unique C-terminus with respect to isoforms A and B.
      Source sequence(s)
      AF373867
      Consensus CDS
      CCDS13767.1
      UniProtKB/Swiss-Prot
      O43435
      UniProtKB/TrEMBL
      D9ZGG0
      Related
      ENSP00000331791, OTTHUMP00000197324, ENST00000332710, OTTHUMT00000318034
      Conserved Domains (1) summary
      cd00182
      Location:109299
      TBOX; T-box DNA binding domain of the T-box family of transcriptional regulators. The T-box family is an ancient group that appears to play a critical role in development in all animal species. These genes were uncovered on the basis of similarity to the DNA ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p7 Primary Assembly

      Range
      19756703..19783593
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006724312.2XP_006724375.1  

      See identical proteins and their annotated locations for XP_006724375.1

      UniProtKB/Swiss-Prot
      O43435
      UniProtKB/TrEMBL
      D9ZGG0
      Conserved Domains (1) summary
      cd00182
      Location:109299
      TBOX; T-box DNA binding domain of the T-box family of transcriptional regulators. The T-box family is an ancient group that appears to play a critical role in development in all animal species. These genes were uncovered on the basis of similarity to the DNA ...
    2. XM_017028926.1XP_016884415.1  

    3. XM_017028925.1XP_016884414.1  

    4. XM_017028928.1XP_016884417.1  

    5. XM_017028927.1XP_016884416.1  

    Alternate CHM1_1.1

    Genomic

    1. NC_018933.2 Alternate CHM1_1.1

      Range
      19744073..19770823
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)