ENSG00000068323


Homo sapiens

Features
Gene ID: ENSG00000068323
  
Biological name :TFE3
  
Synonyms : P19532 / TFE3 / transcription factor binding to IGHM enhancer 3
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: X
Strand: -1
Band: p11.23
Gene start: 49028726
Gene end: 49043486
  
Corresponding Affymetrix probe sets: 1565347_s_at (Human Genome U133 Plus 2.0 Array)   1567704_at (Human Genome U133 Plus 2.0 Array)   206649_s_at (Human Genome U133 Plus 2.0 Array)   212457_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000476976
Ensembl peptide - ENSP00000314129
NCBI entrez gene - 7030     See in Manteia.
OMIM - 314310
RefSeq - NM_001282142
RefSeq - NM_006521
RefSeq Peptide - NP_001269071
RefSeq Peptide - NP_006512
swissprot - P19532
swissprot - A0A024QZ23
Ensembl - ENSG00000068323
  
Related genetic diseases (OMIM): 300854 - Renal cell carcinoma, papillary, 1, 300854

This gene has been taged as a transcription factor by TFT
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 tfe3aENSDARG00000098903Danio rerio
 tfe3bENSDARG00000019457Danio rerio
 Tfe3ENSMUSG00000000134Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
MITF / O75030 / melanogenesis associated transcription factorENSG0000018709848
TFEB / P19484 / transcription factor EBENSG0000011256138
TFEC / O14948 / transcription factor ECENSG0000010596727


Protein motifs (from Interpro)
Interpro ID Name
 IPR011598  Myc-type, basic helix-loop-helix (bHLH) domain
 IPR021802  MiT/TFE transcription factors, C-terminal
 IPR024100  Transcription factor E3
 IPR031867  MiT/TFE transcription factors, N-terminal
 IPR036638  Helix-loop-helix DNA-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002250 adaptive immune response IEA
 biological_processGO:0002376 immune system process IEA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006366 transcription by RNA polymerase II IEA
 biological_processGO:0006959 humoral immune response ISS
 biological_processGO:0045670 regulation of osteoclast differentiation IEA
 biological_processGO:0045785 positive regulation of cell adhesion IMP
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II ISS
 cellular_componentGO:0005634 nucleus IMP
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005829 cytosol IDA
 molecular_functionGO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
 molecular_functionGO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IEA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity NAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0044212 transcription regulatory region DNA binding ISS
 molecular_functionGO:0046983 protein dimerization activity IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0001428 Somatic mutation 
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 HP:0005584 Renal cell carcinoma "Renal cell carcinoma (also known as hypernephroma) is the most common form of kidney cancer arising from the proximal renal tubule. The tissue of origin for renal cell carcinoma is the proximal renal tubular epithelium. Renal cell carcinoma can be classified as 1) clear cell carcinoma, 2) papillary carcinoma, 3) chromophobe renal carcinoma, and 4) collecting duct carcinoma." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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