Basic Information

Symbol
TBX1
RNA class
mRNA
Alias
T-Box Transcription Factor 1 CATCH22 T-Box Transcription Factor TBX1 Testis-Specific T-Box Protein VCF T-Box 1 Transcription Factor C Velocardiofacial Syndrome T-Box Protein 1 Brachyury T-Box 1 TBX1C CAFS CTHM DGCR DORV VCFS DGS TGA
Location (GRCh38)
22:19756703-19783593
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Other applications
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_001379200.1
Sequence length
2048.0 nt
GC content
0.7031

Transcripts

ID Sequence Length GC content
NM_001379200.1 NCBI
ACUCGGCCCGCGGCGCGGGGCAGCGCUCAGCUUGGUGGCGGGGGCGGCG… 2048 nt 0.7031
NM_005992.1 NCBI
CCGGCAGGGGGAGCGAGGAGGAAGGGAACCGCGGCCGGGCCAGCGGAGG… 1538 nt 0.6450
NM_080646.2 NCBI
CCGGCAGGGGGAGCGAGGAGGAAGGGAACCGCGGCCGGGCCAGCGGAGG… 1465 nt 0.6416
NM_080647.1 NCBI
CCGGCAGGGGGAGCGAGGAGGAAGGGAACCGCGGCCGGGCCAGCGGAGG… 2082 nt 0.7027
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]

Forensic Context

A study in rats demonstrated that the TBX1 (Tbx1) was core-enriched in upregulated developmental gene sets in fetal cardiac fibroblasts compared with neonatal cardiac fibroblasts, indicating its role in age-dependent transcriptional programming [Perreault et al. DOI:10.1152/physiolgenomics.00074.2021].