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Aliases for TBX1 Gene

Aliases for TBX1 Gene

  • T-Box 1 2 3 5
  • Testis-Specific T-Box Protein 3 4
  • T-Box 1 Transcription Factor C 3
  • Velocardiofacial Syndrome 2
  • T-Box Protein 1 4
  • Brachyury 3
  • CATCH22 3
  • TBX1C 3
  • DORV 3
  • CTHM 3
  • CAFS 3
  • DGCR 3
  • VCFS 3
  • DGS 3
  • VCF 3
  • TGA 3

External Ids for TBX1 Gene

Previous HGNC Symbols for TBX1 Gene

  • VCF

Previous GeneCards Identifiers for TBX1 Gene

  • GC22P016684
  • GC22P018118
  • GC22P003364

Summaries for TBX1 Gene

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 Digeorge Syndrome. Among its related pathways are Heart Development. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and sequence-specific DNA binding. An important paralog of this gene is TBX20.

UniProtKB/Swiss-Prot for TBX1 Gene

  • Probable transcriptional regulator involved in developmental processes. Is required for normal development of the pharyngeal arch arteries (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TBX1 Gene

Genomics for TBX1 Gene

Regulatory Elements for TBX1 Gene

Enhancers for TBX1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around TBX1 on UCSC Golden Path with GeneCards custom track

Genomic Location for TBX1 Gene

19,756,703 bp from pter
19,783,593 bp from pter
26,891 bases
Plus strand

Genomic View for TBX1 Gene

Genes around TBX1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBX1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TBX1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBX1 Gene

Proteins for TBX1 Gene

  • Protein details for TBX1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    T-box transcription factor TBX1
    Protein Accession:
    Secondary Accessions:
    • C6G493
    • C6G494
    • O43436
    • Q96RJ2

    Protein attributes for TBX1 Gene

    398 amino acids
    Molecular mass:
    43133 Da
    Quaternary structure:
    • Interacts with DSCR6.

    Three dimensional structures from OCA and Proteopedia for TBX1 Gene

    Alternative splice isoforms for TBX1 Gene


neXtProt entry for TBX1 Gene

Proteomics data for TBX1 Gene at MOPED

Post-translational modifications for TBX1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TBX1 Gene

No data available for DME Specific Peptides for TBX1 Gene

Domains & Families for TBX1 Gene

Gene Families for TBX1 Gene

Protein Domains for TBX1 Gene

Suggested Antigen Peptide Sequences for TBX1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 T-box DNA-binding domain.
  • Contains 1 T-box DNA-binding domain.
genes like me logo Genes that share domains with TBX1: view

Function for TBX1 Gene

Molecular function for TBX1 Gene

GENATLAS Biochemistry:
murine T-box gene Tbx1 (T,brachyury) homolog,expressed in the lateral plate mesoderm,the branchial arches,the otic vesicles and the optic cup
UniProtKB/Swiss-Prot Function:
Probable transcriptional regulator involved in developmental processes. Is required for normal development of the pharyngeal arch arteries (By similarity).

Gene Ontology (GO) - Molecular Function for TBX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042803 protein homodimerization activity IDA 11111039
genes like me logo Genes that share ontologies with TBX1: view
genes like me logo Genes that share phenotypes with TBX1: view

Human Phenotype Ontology for TBX1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TBX1 Gene

MGI Knock Outs for TBX1:

Animal Model Products

miRNA for TBX1 Gene

miRTarBase miRNAs that target TBX1

Transcription Factor Targets for TBX1 Gene

Selected GeneGlobe predicted Target genes for TBX1

No data available for Enzyme Numbers (IUBMB) and HOMER Transcription for TBX1 Gene

Localization for TBX1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBX1 Gene

Subcellular locations from

Jensen Localization Image for TBX1 Gene COMPARTMENTS Subcellular localization image for TBX1 gene
Compartment Confidence
nucleus 5
cytoskeleton 2
cytosol 2
extracellular 2
plasma membrane 2
mitochondrion 1

No data available for Gene Ontology (GO) - Cellular Components for TBX1 Gene

Pathways & Interactions for TBX1 Gene

SuperPathways for TBX1 Gene

Superpath Contained pathways
1 Heart Development
genes like me logo Genes that share pathways with TBX1: view

Pathways by source for TBX1 Gene

1 BioSystems pathway for TBX1 Gene

Interacting Proteins for TBX1 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
Selected Interacting proteins: ENSP00000331791 O43435-TBX1_HUMAN for TBX1 Gene via STRING I2D

Gene Ontology (GO) - Biological Process for TBX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis ISS --
GO:0001568 blood vessel development ISS --
GO:0001708 cell fate specification ISS --
GO:0001755 neural crest cell migration ISS --
GO:0001945 lymph vessel development ISS --
genes like me logo Genes that share ontologies with TBX1: view

No data available for SIGNOR curated interactions for TBX1 Gene

Drugs & Compounds for TBX1 Gene

No Compound Related Data Available

Transcripts for TBX1 Gene

Unigene Clusters for TBX1 Gene

T-box 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TBX1 Gene

No ASD Table

Relevant External Links for TBX1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TBX1 Gene

mRNA expression in normal human tissues for TBX1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TBX1 Gene

This gene is overexpressed in Muscle - Skeletal (x11.5) and Testis (x5.2).

Protein differential expression in normal tissues from HIPED for TBX1 Gene

This gene is overexpressed in Serum (68.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for TBX1 Gene

SOURCE GeneReport for Unigene cluster for TBX1 Gene Hs.173984

genes like me logo Genes that share expression patterns with TBX1: view

Protein tissue co-expression partners for TBX1 Gene

- Elite partner

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for TBX1 Gene

Orthologs for TBX1 Gene

This gene was present in the common ancestor of animals.

Orthologs for TBX1 Gene

Organism Taxonomy Gene Similarity Type Details
(Canis familiaris)
Mammalia TBX1 35
  • 90.34 (n)
  • 95.81 (a)
TBX1 36
  • 96 (a)
(Mus musculus)
Mammalia Tbx1 35
  • 85.96 (n)
  • 91.63 (a)
Tbx1 16
Tbx1 36
  • 88 (a)
(Pan troglodytes)
Mammalia TBX1 35
  • 97.6 (n)
  • 96.92 (a)
TBX1 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Tbx1 35
  • 85.3 (n)
  • 91.63 (a)
(Monodelphis domestica)
Mammalia TBX1 36
  • 79 (a)
(Ornithorhynchus anatinus)
Mammalia TBX1 36
  • 61 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia tbx1 35
  • 73.69 (n)
  • 87.08 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.21661 35
(Danio rerio)
Actinopterygii tbx1 35
  • 72.19 (n)
  • 81.18 (a)
tbx1 36
  • 69 (a)
fruit fly
(Drosophila melanogaster)
Insecta Doc3 37
  • 47 (a)
org-1 37
  • 70 (a)
org-1 36
  • 28 (a)
(Caenorhabditis elegans)
Secernentea mab-9 37
  • 49 (a)
mls-1 35
  • 53.54 (n)
  • 56.48 (a)
tbx-7 36
  • 32 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 51 (a)
Species with no ortholog for TBX1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TBX1 Gene

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

Paralogs for TBX1 Gene

Paralogs for TBX1 Gene

(12) SIMAP similar genes for TBX1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with TBX1: view

Variants for TBX1 Gene

Sequence variations from dbSNP and Humsavar for TBX1 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs4819522 - 19,779,259(+) TGAGA(C/T)GTCTA intron-variant, reference, missense
rs41298838 DiGeorge syndrome (DGS) 19,765,921(+) GGCCC(A/G)GCGCA reference, missense
rs28939675 Conotruncal heart malformations (CTHM), Velocardiofacial syndrome (VCFS) 19,763,273(+) GCTCT(A/T)CGGCA reference, missense
VAR_035026 Velocardiofacial syndrome (VCFS)
VAR_036065 A colorectal cancer sample

Structural Variations from Database of Genomic Variants (DGV) for TBX1 Gene

Variant ID Type Subtype PubMed ID
nsv435744 CNV Deletion 17901297
nsv914263 CNV Gain 21882294
esv2751940 CNV Gain 17911159
nsv834128 CNV Loss 17160897
nsv914279 CNV Loss 21882294
nsv914280 CNV Loss 21882294
dgv4841n71 CNV Loss 21882294
nsv828938 CNV Gain 20364138
nsv828939 CNV Loss 20364138
nsv517478 CNV Loss 19592680
nsv834129 CNV Loss 17160897
nsv914288 CNV Loss 21882294
dgv725n67 CNV Gain 20364138
nsv828943 CNV Loss 20364138
nsv471181 CNV Loss 18288195
dgv4843n71 CNV Loss 21882294
dgv4844n71 CNV Loss 21882294
nsv828946 CNV Gain 20364138
esv21705 CNV Loss 19812545
nsv828947 CNV Gain 20364138
nsv828948 CNV Loss 20364138
dgv4845n71 CNV Loss 21882294
nsv914296 CNV Loss 21882294

Variation tolerance for TBX1 Gene

Residual Variation Intolerance Score: 13.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.93; 83.88% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TBX1 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBX1 Gene

Disorders for TBX1 Gene

MalaCards: The human disease database

(25) MalaCards diseases for TBX1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
velocardiofacial syndrome
  • cayler cardiofacial syndrome
digeorge syndrome
  • digeorge sequence
conotruncal heart malformations
  • double-outlet right ventricle
tetralogy of fallot
  • tetrology of fallot
chromosome 22q11.2 microduplication syndrome
  • 22q11.2 microduplication syndrome
- elite association - COSMIC cancer census association via MalaCards
Search TBX1 in MalaCards View complete list of genes associated with diseases


  • 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.
  • 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. {ECO:0000269 PubMed:14585638}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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.
  • 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. {ECO:0000269 PubMed:14585638, ECO:0000269 PubMed:17273972}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TBX1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with TBX1: view

No data available for Genatlas for TBX1 Gene

Publications for TBX1 Gene

  1. Isolation and characterization of a gene from the DiGeorge chromosomal region homologous to the mouse Tbx1 gene. (PMID: 9268629) Chieffo C. … Budarf M.L. (Genomics 1997) 2 3 4 23 67
  2. Understanding velocardiofacial syndrome: how recent discoveries can help you improve your patient outcomes. (PMID: 23000736) Chinnadurai S. … Goudy S. (Curr Opin Otolaryngol Head Neck Surg 2012) 2 3
  3. Single nucleotide polymorphism discovery in TBX1 in individuals with and without 22q11.2 deletion syndrome. (PMID: 19645056) Heike C.L. … Crawford D.C. (Birth Defects Res. Part A Clin. Mol. Teratol. 2010) 3 23
  4. Atypical deletion of 22q11.2: detection using the FISH TBX1 probe and molecular characterization with high-density SNP arrays. (PMID: 19467348) Beaujard M.P. … PortnoA^ M.F. (Eur J Med Genet 2009) 3 23
  5. Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility factor for mental retardation. (PMID: 17377518) Torres-Juan L. … Heine-SuA+er D. (Eur. J. Hum. Genet. 2007) 3 23

Products for TBX1 Gene

Sources for TBX1 Gene