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Gene : TFE3 Homo sapiens

Name  ? transcription factor binding to IGHM enhancer 3 Cytological Location  Xp11.23
Brief Description  transcription factor binding to IGHM enhancer 3
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. 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]
  • synonyms:
  • TFEA,
  • X96717,
  • RCCP2,
  • TFE3,
  • HGNC:11752,
  • NM_006521,
  • RCCX1,
  • OTTHUMG00000022690,
  • bHLHe33,
  • uc004dmb.5,
  • TFEA,
  • bHLHe33
  • identifiers:
  • 7030,
  • ENSG00000068323,
  • TFE3

Genome feature

Region: gene ? Length: 14792  
Location: X:49028726-49043517 reverse strand Cyto location: Xp11.23


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0 Pathways

Gene --> GO terms.

Mouse Gene --> Allele [Phenotype]

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Proteins

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SNPs

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Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

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Mouse Gene --> Allele [Phenotype]

Homology

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Expression

Gene(s) --> Significant SNPs (GTex data)

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Other

0 Pathways

4 SN Ps

5 Cross References

17 Data Sets

10 Homologues

0 Located Features

90 Rna Seq Results