Basic Information

Symbol
TBX5
RNA class
mRNA
Alias
T-Box Transcription Factor 5 T-Box Transcription Factor TBX5 T-Box Protein 5 T-Box 5 HOS
Location (GRCh38)
12:114353911-114409103
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_181486.4
Sequence length
3733.0 nt
GC content
0.4910

Transcripts

ID Sequence Length GC content
NM_000192.3 NCBI
CAUGCCUUAUGCAAGAGACCUCAGUCCCCCGGAACAACUCGAUUUCCUU… 3921 nt 0.4762
NM_080717.4 NCBI
AGUAAUAUUUAAUUUGUCGGAGACCACAAACCAACCUUGAGCUGGGAGG… 3230 nt 0.4678
NM_181486.4 NCBI
AGUACUUUGUGAGCAUCGAGGCAACCCAACGUCACUGUGCUCAGCUGAG… 3733 nt 0.4910
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 is closely linked to related family member T-box 3 (ulnar mammary syndrome) on human chromosome 12. The encoded protein may play a role in heart development and specification of limb identity. Mutations in this gene have been associated with Holt-Oram syndrome, a developmental disorder affecting the heart and upper limbs. Several 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 TBX5 (Tbx5) is a critical cardiac development protein, with RNA-seq analysis showing its upregulation in fetal cardiac fibroblasts compared to neonatal cells, a finding selected for and validated by RT-qPCR which confirmed significantly less expression in adult fibroblasts versus fetal fibroblasts [Perreault et al. DOI:10.1152/physiolgenomics.00074.2021].