ENSMUSG00000023990


Mus musculus

Features
Gene ID: ENSMUSG00000023990
  
Biological name :Tfeb
  
Synonyms : Q9R210 / Tfeb / transcription factor EB
  
Possible biological names infered from orthology : P19484
  
Species: Mus musculus
  
Chr. number: 17
Strand: 1
Band: C
Gene start: 47737030
Gene end: 47792419
  
Corresponding Affymetrix probe sets: 10445729 (MoGene1.0st)   1422566_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000118057
Ensembl peptide - ENSMUSP00000124708
Ensembl peptide - ENSMUSP00000124379
Ensembl peptide - ENSMUSP00000122228
Ensembl peptide - ENSMUSP00000121888
Ensembl peptide - ENSMUSP00000120311
Ensembl peptide - ENSMUSP00000119508
Ensembl peptide - ENSMUSP00000119442
Ensembl peptide - ENSMUSP00000024786
Ensembl peptide - ENSMUSP00000084151
Ensembl peptide - ENSMUSP00000108909
Ensembl peptide - ENSMUSP00000108913
NCBI entrez gene - 21425     See in Manteia.
MGI - MGI:103270
RefSeq - XM_006524007
RefSeq - NM_001161722
RefSeq - NM_001161723
RefSeq - NM_011549
RefSeq - XM_006524003
RefSeq - XM_006524004
RefSeq - XM_006524006
RefSeq Peptide - NP_001155194
RefSeq Peptide - NP_001155195
RefSeq Peptide - NP_035679
swissprot - E9PXZ1
swissprot - D3Z782
swissprot - D3Z6Q7
swissprot - D3Z219
swissprot - D3Z1X9
swissprot - D3YZM7
swissprot - E9PWJ9
swissprot - F6W7D6
swissprot - Q3UKG7
swissprot - Q9R210
Ensembl - ENSMUSG00000023990
  

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
 tfebENSDARG00000010794Danio rerio
 TFEBENSGALG00000039878Gallus gallus
 TFEBENSG00000112561Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Mitf / Q08874 / melanogenesis associated transcription factor / O75030*ENSMUSG0000003515841
Tfe3 / Q64092 / Transcription factor E3 / P19532* / transcription factor binding to IGHM enhancer 3*ENSMUSG0000000013441
Tfec / Q9WTW4 / Transcription factor EC / O14948*ENSMUSG0000002955325


Protein motifs (from Interpro)
Interpro ID Name
 IPR011598  Myc-type, basic helix-loop-helix (bHLH) domain
 IPR015943  WD40/YVTN repeat-like-containing domain superfamily
 IPR021802  MiT/TFE transcription factors, C-terminal
 IPR024098  Transcription factor EB
 IPR031867  MiT/TFE transcription factors, N-terminal
 IPR036638  Helix-loop-helix DNA-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001892 embryonic placenta development IMP
 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:0006914 autophagy IEA
 biological_processGO:0006959 humoral immune response IEA
 biological_processGO:0007040 lysosome organization ISS
 biological_processGO:0010508 positive regulation of autophagy ISS
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IDA
 biological_processGO:0050829 defense response to Gram-negative bacterium IMP
 biological_processGO:1902477 regulation of defense response to bacterium, incompatible interaction IMP
 cellular_componentGO:0005634 nucleus ISO
 cellular_componentGO:0005654 nucleoplasm ISO
 cellular_componentGO:0005667 transcription factor complex IDA
 cellular_componentGO:0005737 cytoplasm ISS
 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 ISO
 molecular_functionGO:0005515 protein binding IEA
 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:0001297 microphthalmia "reduced average size of the eyes" [J:18048]
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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)

 MP:0001711 abnormal placenta 
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Allelic Composition: Plp1jp/Y
Genetic Background: B6C3-EdaTa Plp1jp

 MP:0002080 prenatal lethality "death anytime between fertilization and E18.5" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Plp1jp/Y
Genetic Background: B6C3-EdaTa Plp1jp

 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: Fgfr2tm3Dsn/Fgfr2tm3Dsn
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

Allelic Composition: Tfebtm1Est/Tfeb+,Tfectm1Est/Tfectm1Est
Genetic Background: either: (involves: 129/Sv * 129S1/Sv) or (involves: 129S1/Sv * C57BL/6J)

 MP:0003960 increased lean body mass "more than average fat-free physical bulk or volume of the body including all its components except adipose tissue" [honda:Hiraoki Onda, Mouse GEnome Informatics Curator]
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Allelic Composition: Tead1tm1b(KOMP)Wtsi/Tead1tm1b(KOMP)Wtsi
Genetic Background: C57BL/6N-Tead1tm1b(KOMP)Wtsi/Bay

 MP:0003961 decreased lean body mass "less than average fat-free physical bulk or volume of the body including all its components except adipose tissue" [honda:Hiraoki Onda, Mouse GEnome Informatics Curator]
Show

Allelic Composition: Tead1tm1b(KOMP)Wtsi/Tead1tm1b(KOMP)Wtsi
Genetic Background: C57BL/6N-Tead1tm1b(KOMP)Wtsi/Bay

Allelic Composition: Tfebtm1b(EUCOMM)Wtsi/Tfeb+
Genetic Background: C57BL/6N-Tfebtm1b(EUCOMM)Wtsi/Bay

 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-wh/MitfMi-wh,Tfebtm1Est/Tfeb+
Genetic Background: involves: 129S1/Sv * C57BL * C57BL/6J * DBA

 MP:0010123 increased bone mineral content "elevation in the amount (usually in grams/cm) of bone mineral divided by a bone-scanned area" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Tead1tm1b(KOMP)Wtsi/Tead1tm1b(KOMP)Wtsi
Genetic Background: C57BL/6N-Tead1tm1b(KOMP)Wtsi/Bay

 MP:0010124 decreased bone mineral content "reduction in the amount (usually in grams/cm) of bone mineral divided by a bone-scanned area" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Tfebtm1b(EUCOMM)Wtsi/Tfeb+
Genetic Background: C57BL/6N-Tfebtm1b(EUCOMM)Wtsi/Bay

 MP:0011100 complete preweaning lethality "death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]
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Allelic Composition: Tead1tm1b(KOMP)Wtsi/Tead1tm1b(KOMP)Wtsi
Genetic Background: C57BL/6N-Tead1tm1b(KOMP)Wtsi/Bay

Allelic Composition: Tfebtm1b(EUCOMM)Wtsi/Tfebtm1b(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Tfebtm1b(EUCOMM)Wtsi/Bay

 MP:0011959 abnormal eye posterior chamber depth "anomaly in the distance between the iris and the lens at the center plane (maximum distance) of the posterior chamber, compared to controls" [MGI:csmith]
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Allelic Composition: Tfebtm1b(EUCOMM)Wtsi/Tfeb+
Genetic Background: C57BL/6N-Tfebtm1b(EUCOMM)Wtsi/Bay

 MP:0013293 embryonic lethality prior to tooth bud stage "death prior to the appearance of tooth buds (Mus: E12-E12.5)" [MGI:smb]
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Allelic Composition: Tfebtm1b(EUCOMM)Wtsi/Tfebtm1b(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Tfebtm1b(EUCOMM)Wtsi/Bay

  


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






 

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