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Gene : TBX1 Homo sapiens

Name  ? T-box 1 Cytological Location  22q11.21
Brief Description  T-box 1
description  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]
  • synonyms:
  • NM_080647,
  • TBX1,
  • TGA,
  • VCF,
  • velocardiofacial syndrome,
  • TBX1C,
  • CTHM,
  • VCFS,
  • OTTHUMG00000150421,
  • DGCR,
  • AF012131,
  • uc002zqa.2,
  • HGNC:11592,
  • CAFS,
  • DGS,
  • DORV,
  • CATCH22,
  • VCF,
  • CATCH22
  • identifiers:
  • 6899,
  • ENSG00000184058,
  • TBX1

Genome feature

Region: gene ? Length: 26891  
Location: 22:19756703-19783593 Cyto location: 22q11.21

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.


Gene --> Proteins.


Gene Report --> GWAS hit


4 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene --> Orthologues


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Gene --> Physical and Genetic Interactions


Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



0 Pathways

46 SN Ps

5 Cross References

17 Data Sets

27 Homologues

0 Located Features

90 Rna Seq Results