Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7030
Gene name Gene Name - the full gene name approved by the HGNC.
Transcription factor binding to IGHM enhancer 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TFE3
Synonyms (NCBI Gene) Gene synonyms aliases
MRXSPF, RCCP2, RCCX1, TFEA, bHLHe33
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MRXSPF, RCCX1
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xp11.23
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 factor Regulation Reference
E2F3 Unknown 12748276
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000976 Function Transcription regulatory region sequence-specific DNA binding ISS
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
314310 11752 ENSG00000068323
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Papillary renal carcinoma Papillary Renal Cell Carcinoma rs5030823, rs2137087134, rs121913668, rs121913669, rs121913670, rs121913671, rs121913673, rs121913243, rs786202724
Renal carcinoma Renal Cell Carcinoma, Conventional (Clear Cell) Renal Cell Carcinoma, Sarcomatoid Renal Cell Carcinoma, Collecting Duct Carcinoma of the Kidney, MiT family translocation renal cell carcinoma rs121913668, rs121913670, rs121913243, rs786202724 22207547, 23426439
Unknown
Disease term Disease name Evidence References Source
Chromophobe carcinoma Chromophobe Renal Cell Carcinoma ClinVar
Neurodevelopmental Disorders complex neurodevelopmental disorder, syndromic complex neurodevelopmental disorder GenCC
Associations from Text Mining
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