Basic Information

Symbol
TFE3
RNA class
mRNA
Alias
Transcription Factor Binding To IGHM Enhancer 3 BHLHe33 TFEA Class E Basic Helix-Loop-Helix Protein 33 Transcription Factor E3 Transcription Factor For Immunoglobulin Heavy-Chain Enhancer 3 Transcription Factor E Family, Member A Transcription Factor For IgH Enhancer Transcription Factor E Family Member A BHLHE33 MRXSPF RCCP2 RCCX1
Location (GRCh38)
X:49028726-49043476
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_006521.6
Sequence length
3291.0 nt
GC content
0.5922

Transcripts

ID Sequence Length GC content
NM_001282142.2 NCBI
GCAGUGCUAGCUCCAUGGCUUAGCGGAGGAGGCGGCGGUGGCGAGCUGG… 3226 nt 0.5924
NM_006521.6 NCBI
GCAGUGCUAGCUCCAUGGCUUAGCGGAGGAGGCGGCGGUGGCGAGCUGG… 3291 nt 0.5922
Summary

This gene encodes a basic helix-loop-helix domain-containing transcription factor that binds MUE3-type E-box sequences in the promoter of genes. The encoded protein promotes the expression of genes downstream of transforming growth factor beta (TGF-beta) signaling. This gene may be involved in chromosomal translocations in renal cell carcinomas and other cancers, resulting in the production of fusion proteins. Translocation partners include PRCC (papillary renal cell carcinoma), NONO (non-POU domain containing, octamer-binding), and ASPSCR1 (alveolar soft part sarcoma chromosome region, candidate 1), among other genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] CIViC Summary for TFE3 Gene

Forensic Context

A study in humans demonstrated that the TFE3 gene was downregulated in subcutaneous adipose tissue during short-term weight loss in obese participants [Bollepalli et al. DOI:10.1038/ijo.2017.245].