TFE3 gene homepage

General information
Gene symbol TFE3
Gene name transcription factor binding to IGHM enhancer 3
Chromosome X
Chromosomal band p11.22
Imprinted Unknown
Genomic reference NG_016297.1
Transcript reference NM_006521.4
Associated with diseases RCCX-1
Citation reference(s) -
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 17
Unique public DNA variants reported 15
Individuals with public variants 67
Hidden variants 0
Notes This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created March 06, 2009
Date last updated July 30, 2018
Version TFE3:180730

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 11752
Entrez Gene 7030
PubMed articles TFE3
OMIM - Gene 314310
OMIM - Diseases RCCX-1 (carcinoma, renal cell, Xp11-associated (RCCX-1))
HGMD TFE3
GeneCards TFE3
GeneTests TFE3


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000548 X transcription factor binding to IGHM enhancer 3 NM_006521.4 NP_006512.2 17


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