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Tbio
TBX1
T-box transcription factor TBX1

Protein Summary
Description
Probable transcriptional regulator involved in developmental processes. Is required for normal development of the pharyngeal arch arteries (By similarity). 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]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000329705
  • ENSP00000331176
  • ENSG00000184058
  • ENST00000332710
  • ENSP00000331791
  • ENST00000359500
  • ENSP00000352483

Symbol
  • DGS
  • TGA
  • VCF
  • CAFS
  • CTHM
  • DGCR
  • DORV
  • VCFS
  • TBX1C
  • CATCH22
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
biological process
1
phenotype
0.78
PubMedID
0.65
kinase perturbation
0.6
gene perturbation
0.59


IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 600.22   (req: < 5)
Gene RIFs: 59   (req: <= 3)
Antibodies: 283   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 600.22   (req: >= 5)
Gene RIFs: 59   (req: > 3)
Antibodies: 283   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 64
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0