The 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_016297.2
Transcript reference NM_006521.4
Exon/intron information NM_006521.4 exon/intron table
Associated with diseases ID, MRXSPF, RCCX1
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 53
Unique public DNA variants reported 37
Individuals with public variants 88
Hidden variants 3
Download all this gene's data Download all data
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 February 26, 2024
Version TFE3:240226

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_006521.4.
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
Homepage URL https://www.LOVD.nl/TFE3
HGNC 11752
Entrez Gene 7030
PubMed articles TFE3
OMIM - Gene 314310
OMIM - Diseases MRXSPF (intellectual developmental disorder, X-linked syndromic, with pigmentary mosaicism and coarse facies)
RCCX1 (carcinoma, renal cell, Xp11-associated (RCCX1))
HGMD TFE3
GeneCards TFE3
GeneTests TFE3
Orphanet 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 53


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized use, copying, storage, or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2009-2024. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), curator(s), or any of their employees or agents for the effects of any product, process, or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.