Basic Information

Symbol
TBX20
RNA class
mRNA
Alias
T-Box Transcription Factor 20 T-Box Transcription Factor TBX20 T-Box Protein 20 T-Box 20 ASD4
Location (GRCh38)
7:35202430-35254100
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Sudden cardiac death diagnosis
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_001077653.2
Sequence length
1824.0 nt
GC content
0.5663

Transcripts

ID Sequence Length GC content
NM_001077653.2 NCBI
GCUCACUGUCCGUAGUUCCGCGCCGCGCUCCCCACGCCAGCGUCCUAGC… 1824 nt 0.5663
NM_001166220.1 NCBI
GCUCACUGUCCGUAGUUCCGCGCCGCGCUCCCCACGCCAGCGUCCUAGC… 1374 nt 0.5793
Summary

This gene encodes a T-box family member. The T-box family members share a common DNA binding domain, termed the T-box, and they are transcription factors involved in the regulation of developmental processes. This gene is essential for heart development. Mutations in this gene are associated with diverse cardiac pathologies, including defects in septation, valvulogenesis and cardiomyopathy. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

Forensic Context

A study in mice demonstrated that the TBX20 was examined after knockdown of a novel long non-coding RNA (Novlnc6) in neonatal cardiomyocytes [Ounzain et al. DOI:10.1093/eurheartj/ehu180]. In a separate investigation in rhesus macaques, the TBX20 was identified as a downregulated differentially expressed gene in animals with hypertrophic cardiomyopathy and was also a shared downregulated gene between rhesus and pediatric human HCM [Rivas et al. DOI:10.1038/s41598-024-82770-4].