TFE3 Chromosome X
Transcription factor binding to IGHM enhancer 3
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What This Gene Does
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]
Gene Info
Gene Group
Basic helix-loop-helix proteins
Locus Type
gene with protein product
Location
Xp11.23
Ensembl
ENSG00000068323
Associated Conditions (13)
Intellectual developmental disorder
X-linked
syndromic
with pigmentary mosaicism and coarse facies
Renal cell carcinoma
Xp11-associated
Intellectual disability
Inborn genetic diseases
Neurodevelopmental abnormality
Thyroid cancer
nonmedullary
1
Neurodevelopmental disorder
Key Variants
RS782285732
Conflicting classifications of pathogenicity
Intellectual developmental disorder, X-linked, syndromic
Health Risk
RS2064742830
Likely pathogenic
Intellectual disability, Intellectual disability
Health Risk
RS2147776445
Likely pathogenic
Intellectual developmental disorder, X-linked, syndromic
Health Risk
RS2520162018
Likely pathogenic
Intellectual developmental disorder, X-linked, syndromic
Health Risk
RS2520162033
Likely pathogenic
Intellectual developmental disorder, X-linked, syndromic
Health Risk
RS2520162046
Likely pathogenic
Health Risk
RS2520164693
Likely pathogenic
Intellectual developmental disorder, X-linked, syndromic
Health Risk
RS2064742925
Pathogenic
Inborn genetic diseases, Neurodevelopmental abnormality, Intellectual developmental disorder
Health Risk
RS2147776168
Pathogenic
Intellectual developmental disorder, X-linked, syndromic
Health Risk
RS2147776381
Pathogenic
Intellectual developmental disorder, X-linked, syndromic
Health Risk
RS2147776463
Pathogenic
Intellectual developmental disorder, X-linked, syndromic
Health Risk
RS2147777343
Pathogenic
Intellectual developmental disorder, X-linked, syndromic
Health Risk
All Variants (14)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS782285732 | Health Risk | Conflicting classifications of pathogenicity | Intellectual developmental disorder, X-linked, syndromic |
| RS2064742830 | Health Risk | Likely pathogenic | Intellectual disability, Intellectual disability |
| RS2147776445 | Health Risk | Likely pathogenic | Intellectual developmental disorder, X-linked, syndromic |
| RS2520162018 | Health Risk | Likely pathogenic | Intellectual developmental disorder, X-linked, syndromic |
| RS2520162033 | Health Risk | Likely pathogenic | Intellectual developmental disorder, X-linked, syndromic |
| RS2520162046 | Health Risk | Likely pathogenic | — |
| RS2520164693 | Health Risk | Likely pathogenic | Intellectual developmental disorder, X-linked, syndromic |
| RS2064742925 | Health Risk | Pathogenic | Inborn genetic diseases, Neurodevelopmental abnormality, Intellectual developmental disorder |
| RS2147776168 | Health Risk | Pathogenic | Intellectual developmental disorder, X-linked, syndromic |
| RS2147776381 | Health Risk | Pathogenic | Intellectual developmental disorder, X-linked, syndromic |
| RS2147776463 | Health Risk | Pathogenic | Intellectual developmental disorder, X-linked, syndromic |
| RS2147777343 | Health Risk | Pathogenic | Intellectual developmental disorder, X-linked, syndromic |
| RS2147777346 | Health Risk | Pathogenic | Neurodevelopmental disorder, Intellectual developmental disorder, X-linked |
| RS909876976 | Health Risk | Pathogenic | — |