Version 2.78

Description

The TFE3 (transcription factor binding to IGHM enhancer 3) gene [HGNC Gene ID: 1752] is located on chromosome X at position p11.23. 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][NCBI Gene ID: 7030] Source: NCBI PubMed

Basic Part Properties

Part Display Name
TFE3 gene rearrangements
Part Type
Component (Describes the core component or analyte measured)
Created On
2020-08-17
Construct for LOINC Short Name
TFE3 rearrange

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP420082-2

Language Variants Get Info

Tag Language Translation
it-IT Italian (Italy) TFE3, gene riarrangiamenti
nl-NL Dutch (Netherlands) TFE3-genherschikking
Synonyms: TFE3-gentranslocaties
es-ES Spanish (Spain) Reordenamientos del gen TFE3
zh-CN Chinese (China) TFE3 基因重排
Synonyms: TFE3 基因重排(重组)