TFE3 transcription factor binding to IGHM enhancer 3

Gene ID: 7030, updated on 22-Apr-2024
Gene type: protein coding
Also known as: TFEA; RCCP2; RCCX1; MRXSPF; bHLHe33

Summary

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies MedGen: C5561930OMIM: 301066GeneReviews: Not available	not available
Renal cell carcinoma, Xp11-associated MedGen: C3275446OMIM: 300854GeneReviews: Not available	See labs

Genomic context

Location:: Xp11.23

Sequence:: Chromosome: X; NC_000023.11 (49028726..49043357, complement)

Total number of exons:: 12

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for TFE3 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
TFE3 @ LOVD
Variation Viewer
Related Variants

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