Transcription Factor For Immunoglobulin Heavy-Chain Enhancer 3

Alternative Names

  • TFE3
  • TFE3/ASPSCR1 Fusion Gene
  • TFE3/PRCC Fusion Gene
  • TFE3/SFPQ Fusion Gene
  • TFE3/CLTC Fusion Gene

Associated Diseases

Alveolar Soft Part Sarcoma
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OMIM Number

314310

NCBI Gene ID

7030

Uniprot ID

P19532

Length

14,792 bases

No. of Exons

11

No. of isoforms

2

Protein Name

Transcription Factor E3

Molecular Mass

61521 Da

Amino Acid Count

575

Genomic Location

chrX:49,028,725-49,043,356

Gene Map Locus
Xp11.23

Description

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. [From RefSeq]

Epidemiology in the Arab World

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Other Reports

Lebanon

Jabbour et al, 2014, described a 24-year-old woman with vulvovaginal alveolar soft part sarcoma. Tests on the tumor cells confirmed the expression of TFE3 protein as well as the presence of the ASPL-TFE3 gene rearrangement.   

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