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Tfeb Gene Detail
Summary
  • Symbol
    Tfeb
  • Name
    transcription factor EB
  • Synonyms
    bHLHe35, Tcfeb, TFEB
  • Feature Type
    protein coding gene
  • IDs
    MGI:103270
    NCBI Gene: 21425
  • Alliance
    gene page
  • Transcription Start Sites
    13 TSS
Location &
Maps
more
  • Sequence Map
    Chr17:48047962-48103341 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 17, 23.99 cM, cytoband D
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1277 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    2
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_103270
 protein coding gene Chr17:48047955-48103344 (+)
129S1/SvImJ MGP_129S1SvImJ_G0023857
 protein coding gene Chr17:48954107-49017436 (+)
A/J MGP_AJ_G0023817
 protein coding gene Chr17:47689403-47745869 (+)
AKR/J MGP_AKRJ_G0023786
 protein coding gene Chr17:48111629-48166789 (+)
BALB/cJ MGP_BALBcJ_G0023819
 protein coding gene Chr17:47604089-47661183 (+)
C3H/HeJ MGP_C3HHeJ_G0023582
 protein coding gene Chr17:48840131-48902566 (+)
C57BL/6NJ MGP_C57BL6NJ_G0024263
 protein coding gene Chr17:50995120-51060064 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0021712
 protein coding gene Chr17:44447167-44502398 (+)
CAST/EiJ MGP_CASTEiJ_G0023064
 protein coding gene Chr17:48952606-49014091 (+)
CBA/J MGP_CBAJ_G0023559
 protein coding gene Chr17:52849331-52913841 (+)
DBA/2J MGP_DBA2J_G0023687
 protein coding gene Chr17:46445568-46500687 (+)
FVB/NJ MGP_FVBNJ_G0023653
 protein coding gene Chr17:46102925-46161234 (+)
LP/J MGP_LPJ_G0023767
 protein coding gene Chr17:49606612-49666697 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0023681
 protein coding gene Chr17:52324083-52382282 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0024308
 protein coding gene Chr17:48462751-48521466 (+)
PWK/PhJ MGP_PWKPhJ_G0022809
 protein coding gene Chr17:45823665-45879618 (+)
SPRET/EiJ MGP_SPRETEiJ_G0022624
 protein coding gene Chr17:45353074-45412634 (+)
WSB/EiJ MGP_WSBEiJ_G0023129
 protein coding gene Chr17:49052085-49108040 (+)



Homology
more
  • Human Ortholog
    TFEB, transcription factor EB
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    TFEB, transcription factor EB
  • Synonyms
    ALPHATFEB, BHLHE35, TCFEB
  • Links
    NCBI Gene ID: 7942
    neXtProt AC: NX_P19484
    UniProt: P19484

  • Chr Location
    6p21.1; chr6:41683978-41736259 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    15 phenotypes from 5 alleles in 5 genetic backgrounds
    4 phenotypes from multigenic genotypes
    73 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygotes for a targeted null mutation exhibit severe defects in placental vascularization with few vessels entering the placenta and little branching. Mutants die between embryonic days 9.5 and 10.5. Homozygosity for the p.C270S mutation leads to increased susceptibility to bacterial infection.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    47
  • GO References
    11
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    1002
  • Tissues
    232
  • cDNA Data
    52
  • Literature Summary
    33
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 21425 NCBI Gene Model | MGI Sequence Detail 55380 C57BL/6J ±  kb
    transcript NM_001432180 RefSeq | MGI Sequence Detail 2416 C57BL/6  
    polypeptide Q9R210 UniProt | EBI | MGI Sequence Detail 475 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      14 Sequences
    • Protein Ontology
      PR:000016272 transcription factor EB
      (term hierarchy)
    • InterPro Domains
      IPR036638 Helix-loop-helix DNA-binding domain superfamily
      IPR021802 MiT/TFE transcription factors, C-terminal
      IPR031867 MiT/TFE transcription factors, N-terminal
      IPR011598 Myc-type, basic helix-loop-helix (bHLH) domain
      IPR024098 Transcription factor EB, bHLHzip domain
    Molecular
    Reagents
    less
    • All nucleic 66
      Genomic 3
      cDNA 53
      Primer pair 8
      Other 2

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-24150
    References
    more
    • Summaries
      All 172
      Developmental Gene Expression 33
      Gene Ontology 11
      Phenotypes 73
    • Earliest
      J:22951 Carr CS, et al., A helix-loop-helix protein related to the immunoglobulin E box-binding proteins. Mol Cell Biol. 1990 Aug;10(8):4384-8
    • Latest
      J:358941 Zhu X, et al., The nutrient-sensing Rag-GTPase complex in B cells controls humoral immunity via TFEB/TFE3-dependent mitochondrial fitness. Nat Commun. 2024 Nov 23;15(1):10163
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory