QuickView for TGA (gene)

Gene Symbol:

TBX1 Homo sapiens

Full name:

T-box 1

Synonyms:

CAFS, CATCH22, CTHM, DGCR, DGS, DORV, TBX1C, TGA, VCF, VCFS, T-box transcription factor TBX1, T-box 1 transcription factor C, Testis-specific T-box protein, brachyury

Genomic Location:

Chr 22: 18124226-18151116

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 ...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  C. elegans ,  Danio rerio ,  Pan troglodytes ,  Canis lupus familiaris

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

IRF1_01 ,  ACTGTAG_MIR139 ,  IRF1_Q6 ,  GGGCGGR_SP1_Q6 ,  GTGCCAA_MIR96 ,  IRF_Q6 ,  ATACTGT_MIR144 ,  ICSBP_Q6 ,  IRF2_01

miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-101 ,  Predicted Gene Targets for miR-139 ,  Predicted Gene Targets for miR-144 ,  Predicted Gene Targets for miR-96 ,  Predicted Gene Targets for miR-182

Cytogenetic Map:

22q11.21

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