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Gene: TFE3 (transcription factor binding to IGHM enhancer 3) Homo sapiens
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Symbol: TFE3
Name: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: bHLHe33; class E basic helix-loop-helix protein 33; RCCP2; RCCX1; TFEA; transcription factor E family, member A; transcription factor E3; Transcription factor for IgH enhancer; transcription factor for immunoglobulin heavy-chain enhancer 3
Orthologs:
Mus musculus (house mouse) : Tfe3 (transcription factor E3)  MGI  Alliance
Rattus norvegicus (Norway rat) : Tfe3 (transcription factor binding to IGHM enhancer 3)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Tfe3 (transcription factor binding to IGHM enhancer 3)
Pan paniscus (bonobo/pygmy chimpanzee) : TFE3 (transcription factor binding to IGHM enhancer 3)
Canis lupus familiaris (dog) : TFE3 (transcription factor binding to IGHM enhancer 3)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Tfe3 (transcription factor binding to IGHM enhancer 3)
Sus scrofa (pig) : TFE3 (transcription factor binding to IGHM enhancer 3)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X49,028,726 - 49,043,357 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X48,886,237 - 48,900,990 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X48,771,186 - 48,787,934 (-)NCBINCBI36hg18NCBI36
Build 34X48,642,489 - 48,657,239NCBI
CeleraX52,763,508 - 52,778,256 (+)NCBI
Cytogenetic MapXp11.23NCBI
HuRefX46,544,091 - 46,558,358 (-)NCBIHuRef
CHM1_1X48,917,569 - 48,932,374 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on TFE3
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1351703
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-09-12
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.