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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:
  • bHLHe33,
  • TFEA,
  • HGNC:11752,
  • TFEA,
  • NM_006521,
  • RCCX1,
  • RCCP2,
  • uc004dmb.5,
  • X96717,
  • OTTHUMG00000022690,
  • bHLHe33,
  • TFE3
  • identifiers:
  • 7030,
  • ENSG00000068323,
  • TFE3

Genome feature

Region: gene ? Length: 14632  
Location: X:49028726-49043357 reverse strand Cyto location: Xp11.23

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.


Gene --> Proteins.


Gene Report --> GWAS hit


1 Diseases

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

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene --> Orthologues


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Gene --> Physical and Genetic Interactions


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

Gene Ontology

Gene --> GO terms.



0 Pathways

454 SN Ps

5 Cross References

17 Data Sets

10 Homologues

0 Located Features

97 Rna Seq Results