ENSMUSG00000000134


Mus musculus

Features
Gene ID: ENSMUSG00000000134
  
Biological name :Tfe3
  
Synonyms : Q64092 / Tfe3 / Transcription factor E3
  
Possible biological names infered from orthology : P19532 / transcription factor binding to IGHM enhancer 3
  
Species: Mus musculus
  
Chr. number: X
Strand: 1
Band: A1.1
Gene start: 7762560
Gene end: 7775202
  
Corresponding Affymetrix probe sets: 10598409 (MoGene1.0st)   1434318_a_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000111344
Ensembl peptide - ENSMUSP00000111343
Ensembl peptide - ENSMUSP00000120920
Ensembl peptide - ENSMUSP00000134125
Ensembl peptide - ENSMUSP00000076864
Ensembl peptide - ENSMUSP00000078498
Ensembl peptide - ENSMUSP00000099219
Ensembl peptide - ENSMUSP00000111341
Ensembl peptide - ENSMUSP00000111342
NCBI entrez gene - 209446     See in Manteia.
MGI - MGI:98511
RefSeq - NM_001105197
RefSeq - NM_001105196
RefSeq - NM_001271489
RefSeq - NM_001271490
RefSeq - NM_001271491
RefSeq - NM_172472
RefSeq - XM_006527578
RefSeq - XM_017318453
RefSeq - XM_017318454
RefSeq Peptide - NP_001098666
RefSeq Peptide - NP_001098667
RefSeq Peptide - NP_001258418
RefSeq Peptide - NP_001258419
RefSeq Peptide - NP_001258420
RefSeq Peptide - NP_766060
swissprot - A2AEW0
swissprot - Q64092
swissprot - A2AEW2
swissprot - A2AEW1
swissprot - Z4YLF7
Ensembl - ENSMUSG00000000134
  

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


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 tfe3aENSDARG00000098903Danio rerio
 tfe3bENSDARG00000019457Danio rerio
 TFE3ENSG00000068323Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Mitf / Q08874 / melanogenesis associated transcription factor / O75030*ENSMUSG0000003515849
Tfeb / Q9R210 / transcription factor EB / P19484*ENSMUSG0000002399039
Tfec / Q9WTW4 / Transcription factor EC / O14948*ENSMUSG0000002955324


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 IMP
 biological_processGO:0045670 regulation of osteoclast differentiation IGI
 biological_processGO:0045785 positive regulation of cell adhesion ISS
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IDA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IDA
 cellular_componentGO:0005634 nucleus ISO
 cellular_componentGO:0005654 nucleoplasm ISO
 cellular_componentGO:0005667 transcription factor complex IC
 cellular_componentGO:0005737 cytoplasm IMP
 cellular_componentGO:0005829 cytosol ISO
 molecular_functionGO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA
 molecular_functionGO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IDA
 molecular_functionGO:0003677 DNA binding IDA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IDA
 molecular_functionGO:0044212 transcription regulatory region DNA binding IDA
 molecular_functionGO:0046982 protein heterodimerization activity IPI
 molecular_functionGO:0046983 protein dimerization activity IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000067 osteopetrosis "excessive formation of dense trabecular bone and excessive calcified cartilage formation; may lead to anemia and extramedullary hematopoiesis " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MeSH:National Library of Medicine - Medical Subject Headings, 2003]
Show

Allelic Composition: Mitfmi-vga9/Mitfmi-vga9,Tfe3tm1Est/Tfe3tm1Est
Genetic Background: either: (involves: 129/Sv * 129S1/Sv * C57BL/6 * CBA) or (involves: 129S1/Sv * C57BL/6 * C57BL/6J * CBA)

Allelic Composition: Mitfmi-ew/Mitfmi-ew,Tfe3tm1Est/Tfe3tm1Est
Genetic Background: either: (involves: 129/Sv * 129S1/Sv * C57BL/6Bn * NAW) or (involves: 129S1/Sv * C57BL/6Bn * C57BL/6J * NAW)

Allelic Composition: MitfMi-wh/MitfMi-wh,Tfe3tm1Est/Tfe3tm1Est
Genetic Background: either: (involves: 129/Sv * 129S1/Sv * C57BL * DBA) or (involves: 129S1/Sv * C57BL * C57BL/6J * DBA)

Allelic Composition: MitfMi/MitfMi,Tfe3tm1Est/Tfe3tm1Est
Genetic Background: either: (involves: 129/Sv * 129S1/Sv * C57BL/6J) or (involves: 129S1/Sv * C57BL/6J)

Allelic Composition: MitfMi-wh/MitfMi-wh,Tfe3tm1Est/Tfe3tm1Est,Tfectm1Est/Tfectm1Est
Genetic Background: either: (involves: 129/Sv * 129S1/Sv * C57BL * DBA) or (involves: 129S1/Sv * C57BL * C57BL/6J * DBA)

Allelic Composition: Mitfmi-ew/Mitfmi-ew,Tfe3tm1Est/Tfe3+
Genetic Background: either: (involves: 129/Sv * 129S1/Sv * C57BL/6Bn * NAW) or (involves: 129S1/Sv * C57BL/6Bn * C57BL/6J * NAW)

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Mitfmi-vga9/Mitfmi-vga9,Tfe3tm1Est/Tfe3tm1Est
Genetic Background: either: (involves: 129/Sv * 129S1/Sv * C57BL/6 * CBA) or (involves: 129S1/Sv * C57BL/6 * C57BL/6J * CBA)

Allelic Composition: MitfMi-wh/MitfMi-wh,Tfe3tm1Est/Tfe3tm1Est
Genetic Background: either: (involves: 129/Sv * 129S1/Sv * C57BL * DBA) or (involves: 129S1/Sv * C57BL * C57BL/6J * DBA)

 MP:0001297 microphthalmia "reduced average size of the eyes" [J:18048]
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Allelic Composition: Mitfmi-vga9/Mitfmi-vga9,Tfe3tm1Est/Tfe3tm1Est
Genetic Background: either: (involves: 129/Sv * 129S1/Sv * C57BL/6 * CBA) or (involves: 129S1/Sv * C57BL/6 * C57BL/6J * CBA)

Allelic Composition: Mitfmi-ew/Mitfmi-ew,Tfe3tm1Est/Tfe3tm1Est
Genetic Background: either: (involves: 129/Sv * 129S1/Sv * C57BL/6Bn * NAW) or (involves: 129S1/Sv * C57BL/6Bn * C57BL/6J * NAW)

Allelic Composition: MitfMi-wh/MitfMi-wh,Tfe3tm1Est/Tfe3tm1Est
Genetic Background: either: (involves: 129/Sv * 129S1/Sv * C57BL * DBA) or (involves: 129S1/Sv * C57BL * C57BL/6J * DBA)

Allelic Composition: MitfMi/MitfMi,Tfe3tm1Est/Tfe3tm1Est
Genetic Background: either: (involves: 129/Sv * 129S1/Sv * C57BL/6J) or (involves: 129S1/Sv * C57BL/6J)

Allelic Composition: MitfMi-wh/MitfMi-wh,Tfe3tm1Est/Tfe3tm1Est,Tfectm1Est/Tfectm1Est
Genetic Background: either: (involves: 129/Sv * 129S1/Sv * C57BL * DBA) or (involves: 129S1/Sv * C57BL * C57BL/6J * DBA)

Allelic Composition: Mitfmi-ew/Mitfmi-ew,Tfe3tm1Est/Tfe3+
Genetic Background: either: (involves: 129/Sv * 129S1/Sv * C57BL/6Bn * NAW) or (involves: 129S1/Sv * C57BL/6Bn * C57BL/6J * NAW)

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Cd9tm1Kudo/Cd9tm1Kudo
Genetic Background: involves: 129X1/SvJ * C57BL/6N

Allelic Composition: Tfe3tm1Est/Tfe3tm1Est,Tfectm1Est/Tfectm1Est
Genetic Background: either: (involves: 129/Sv * 129S1/Sv) or (involves: 129S1/Sv * C57BL/6J)

Allelic Composition: Tfe3tm1Est/Tfe3tm1Est,Tfebtm1Est/Tfeb+
Genetic Background: either: (involves: 129/Sv * 129S1/Sv) or (involves: 129S1/Sv * C57BL/6J)

 MP:0003053 delayed tooth eruption "postponed onset of the growth of the teeth out of the gums" [pvb:Pierre Vanden Borre, Mouse Genome Informatics Curator]
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Allelic Composition: Mitfmi-vga9/Mitfmi-vga9,Tfe3tm1Est/Tfe3tm1Est
Genetic Background: either: (involves: 129/Sv * 129S1/Sv * C57BL/6 * CBA) or (involves: 129S1/Sv * C57BL/6 * C57BL/6J * CBA)

Allelic Composition: Mitfmi-ew/Mitfmi-ew,Tfe3tm1Est/Tfe3tm1Est
Genetic Background: either: (involves: 129/Sv * 129S1/Sv * C57BL/6Bn * NAW) or (involves: 129S1/Sv * C57BL/6Bn * C57BL/6J * NAW)

 MP:0004982 abnormal osteoclast morphology "any structural anomaly of the bone resorpting cells that remove bone tissue by degrading the mineralized matrix" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Mitfmi-vga9/Mitfmi-vga9,Tfe3tm1Est/Tfe3tm1Est
Genetic Background: either: (involves: 129/Sv * 129S1/Sv * C57BL/6 * CBA) or (involves: 129S1/Sv * C57BL/6 * C57BL/6J * CBA)

Allelic Composition: Mitfmi-ew/Mitfmi-ew,Tfe3tm1Est/Tfe3tm1Est
Genetic Background: either: (involves: 129/Sv * 129S1/Sv * C57BL/6Bn * NAW) or (involves: 129S1/Sv * C57BL/6Bn * C57BL/6J * NAW)

Allelic Composition: MitfMi/MitfMi,Tfe3tm1Est/Tfe3tm1Est
Genetic Background: either: (involves: 129/Sv * 129S1/Sv * C57BL/6J) or (involves: 129S1/Sv * C57BL/6J)

 MP:0005171 lack of coat pigmentation "fur is devoid of coloration and appears white " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, J:83500]
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Allelic Composition: Mitfmi-vga9/Mitfmi-vga9,Tfe3tm1Est/Tfe3tm1Est
Genetic Background: either: (involves: 129/Sv * 129S1/Sv * C57BL/6 * CBA) or (involves: 129S1/Sv * C57BL/6 * C57BL/6J * CBA)

Allelic Composition: Mitfmi-ew/Mitfmi-ew,Tfe3tm1Est/Tfe3tm1Est
Genetic Background: either: (involves: 129/Sv * 129S1/Sv * C57BL/6Bn * NAW) or (involves: 129S1/Sv * C57BL/6Bn * C57BL/6J * NAW)

Allelic Composition: MitfMi-wh/MitfMi-wh,Tfe3tm1Est/Tfe3tm1Est
Genetic Background: either: (involves: 129/Sv * 129S1/Sv * C57BL * DBA) or (involves: 129S1/Sv * C57BL * C57BL/6J * DBA)

Allelic Composition: MitfMi/MitfMi,Tfe3tm1Est/Tfe3tm1Est
Genetic Background: either: (involves: 129/Sv * 129S1/Sv * C57BL/6J) or (involves: 129S1/Sv * C57BL/6J)

Allelic Composition: MitfMi-wh/MitfMi-wh,Tfe3tm1Est/Tfe3tm1Est,Tfectm1Est/Tfectm1Est
Genetic Background: either: (involves: 129/Sv * 129S1/Sv * C57BL * DBA) or (involves: 129S1/Sv * C57BL * C57BL/6J * DBA)

Allelic Composition: Mitfmi-ew/Mitfmi-ew,Tfe3tm1Est/Tfe3+
Genetic Background: either: (involves: 129/Sv * 129S1/Sv * C57BL/6Bn * NAW) or (involves: 129S1/Sv * C57BL/6Bn * C57BL/6J * NAW)

 MP:0011085 complete postnatal lethality "premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
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Allelic Composition: Mitfmi-vga9/Mitfmi-vga9,Tfe3tm1Est/Tfe3tm1Est
Genetic Background: either: (involves: 129/Sv * 129S1/Sv * C57BL/6 * CBA) or (involves: 129S1/Sv * C57BL/6 * C57BL/6J * CBA)

Allelic Composition: Mitfmi-ew/Mitfmi-ew,Tfe3tm1Est/Tfe3tm1Est
Genetic Background: either: (involves: 129/Sv * 129S1/Sv * C57BL/6Bn * NAW) or (involves: 129S1/Sv * C57BL/6Bn * C57BL/6J * NAW)

 MP:0011086 partial postnatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
Show

Allelic Composition: MitfMi-wh/MitfMi-wh,Tfe3tm1Est/Tfe3tm1Est
Genetic Background: either: (involves: 129/Sv * 129S1/Sv * C57BL * DBA) or (involves: 129S1/Sv * C57BL * C57BL/6J * DBA)

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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