Gene Gene information from NCBI Gene database.
Entrez ID 7030
Gene name Transcription factor binding to IGHM enhancer 3
Gene symbol TFE3
Synonyms (NCBI Gene)
MRXSPFRCCP2RCCX1TFEAbHLHe33
Chromosome X
Chromosome location Xp11.23
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)
miRNA miRNA information provided by mirtarbase database.
243
miRTarBase ID miRNA Experiments Reference
MIRT017158 hsa-miR-335-5p Microarray 18185580
MIRT037852 hsa-miR-455-3p CLASH 23622248
MIRT1420433 hsa-let-7a CLIP-seq
MIRT1420434 hsa-let-7b CLIP-seq
MIRT1420435 hsa-let-7c CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
E2F3 Unknown 12748276
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
47
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000976 Function Transcription cis-regulatory region binding ISS
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
314310 11752 ENSG00000068323
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P19532
Protein name Transcription factor E3 (Class E basic helix-loop-helix protein 33) (bHLHe33)
Protein function Transcription factor that acts as a master regulator of lysosomal biogenesis and immune response (PubMed:2338243, PubMed:24448649, PubMed:29146937, PubMed:30733432, PubMed:31672913, PubMed:37079666). Specifically recognizes and binds E-box seque
PDB 7F09
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15951 MITF_TFEB_C_3_N 113 266 MITF/TFEB/TFEC/TFE3 N-terminus Family
PF00010 HLH 347 400 Helix-loop-helix DNA-binding domain Domain
PF11851 DUF3371 432 574 Domain of unknown function (DUF3371) Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous in fetal and adult tissues. {ECO:0000269|PubMed:8986805}.
Sequence
Sequence length 575
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Mitophagy - animal
Transcriptional misregulation in cancer
Renal cell carcinoma
 
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
35
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies Pathogenic; Likely pathogenic rs2147777346, rs2147777343, rs2147776381, rs2064742925, rs2147776168, rs2147776463, rs2147776445, rs2520162033, rs2520164693, rs2520162018 RCV001732146
RCV001733804
RCV001733805
RCV001733806
RCV001733807
RCV001775203
RCV001775204
RCV002291368
RCV002468809
RCV003153063
RCV003234809
RCV001732102
RCV001732109
Intellectual disability Likely pathogenic rs2064742830 RCV001255376
Neurodevelopmental abnormality Likely pathogenic; Pathogenic rs2064742925 RCV001732101
Neurodevelopmental disorder Pathogenic rs2147777346 RCV001374939
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Renal cell carcinoma, Xp11-associated Uncertain significance; Conflicting classifications of pathogenicity rs782782345, rs782285732 RCV001803670
RCV005399396
See cases Uncertain significance rs868924892 RCV002252906
TFE3-Associated Neurodevelopmental disorder Uncertain significance rs2147780092 RCV001420672
TFE3-related disorder Uncertain significance rs1218432951, rs1047731769, rs1277025733, rs1286561719, rs1557075315 RCV004756316
RCV003402871
RCV003400483
RCV003894503
RCV003949328
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenoma Pleomorphic Associate 31467228
Angiomyolipoma Associate 25550868, 36740682
Burkitt Lymphoma Associate 12719541
Calcinosis Associate 29713041
Calcinosis Cutis Associate 20154303, 20665500, 22037260
Capillary Malformation Arteriovenous Malformation Associate 39486419
Carcinogenesis Associate 27673450, 35396773
Carcinoma Adenoid Cystic Associate 25485635
Carcinoma Medullary Associate 26415891
Carcinoma Pancreatic Ductal Stimulate 30030118