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Tcf4 Gene Detail
Summary
  • Symbol
    Tcf4
  • Name
    transcription factor 4
  • Synonyms
    5730422P05Rik, ASP-I2, bHLHb19, E2-2, E2.2, ITF-2, ITF-2b, ME2, MITF-2A, MITF-2B, SEF-2, SEF2-1, TFE
  • Feature Type
    protein coding gene
  • IDs
    MGI:98506
    NCBI Gene: 21413
  • Alliance
    gene page
  • Transcription Start Sites
    58 TSS
Location &
Maps
more
  • Sequence Map
    Chr18:69476500-69821038 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 18, 43.23 cM, cytoband E2
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    8818 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_98506
 protein coding gene Chr18:69476427-69822150 (+)
129S1/SvImJ MGP_129S1SvImJ_G0024538
 protein coding gene Chr18:69757144-70119256 (+)
A/J MGP_AJ_G0024505
 protein coding gene Chr18:66725209-67072089 (+)
AKR/J MGP_AKRJ_G0024476
 protein coding gene Chr18:68659827-69012240 (+)
BALB/cJ MGP_BALBcJ_G0024505
 protein coding gene Chr18:66870910-67217568 (+)
C3H/HeJ MGP_C3HHeJ_G0024273
 protein coding gene Chr18:68784715-69140295 (+)
C57BL/6NJ MGP_C57BL6NJ_G0024951
 protein coding gene Chr18:71579674-71941358 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0022382
 protein coding gene Chr18:66045122-66391709 (+)
CAST/EiJ MGP_CASTEiJ_G0023746
 protein coding gene Chr18:68869966-69241914 (+)
CBA/J MGP_CBAJ_G0024242
 protein coding gene Chr18:74026730-74400916 (+)
DBA/2J MGP_DBA2J_G0024372
 protein coding gene Chr18:66334492-66685523 (+)
FVB/NJ MGP_FVBNJ_G0024338
 protein coding gene Chr18:65706503-66055131 (+)
LP/J MGP_LPJ_G0024456
 protein coding gene Chr18:69617823-69981701 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0024368
 protein coding gene Chr18:75274337-75637417 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0024999
 protein coding gene Chr18:68838974-69191985 (+)
PWK/PhJ MGP_PWKPhJ_G0023490
 protein coding gene Chr18:66677030-67029515 (+)
SPRET/EiJ MGP_SPRETEiJ_G0023294
 protein coding gene Chr18:68982878-69338953 (+)
WSB/EiJ MGP_WSBEiJ_G0023809
 protein coding gene Chr18:68771042-69128621 (+)



Homology
more
  • Human Ortholog
    TCF4, transcription factor 4
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    TCF4, transcription factor 4
  • Synonyms
    bHLHb19, CDG2T, E2-2, FCD2, FECD3, ITF-2, ITF2, PTHS, SEF-2, SEF2, SEF2-1, SEF2-1A, SEF2-1B, SEF2-1D, TCF-4
  • Links
    NCBI Gene ID: 6925
    neXtProt AC: NX_P15884
    UniProt: P15884

  • Chr Location
    18q21.2; chr18:55222185-55664787 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with Tcf4 mouse models; 3 with human TCF4 associations

Human Disease Mouse Models
      
IDs
 View 6 models
      
IDs
 View 1 model
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    6 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    46 phenotypes from 7 alleles in 12 genetic backgrounds
    7 phenotypes from multigenic genotypes
    56 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 null allele show a partial block in early thymopoiesis, increased double-negative T cell count, and increased sensitivity to anti-CD3 induced apoptosis. Homozygotes for another null allele show neonatal or postnatal lethality, reduced pro-B cell number, and abnormal pontine nuclei.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    59
  • GO References
    21
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
    1080
  • Tissues
    268
  • cDNA Data
    46
  • Literature Summary
    75
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 21413 NCBI Gene Model | MGI Sequence Detail 344539 C57BL/6J ±  kb
    transcript NM_013685 RefSeq | MGI Sequence Detail 7462 C57BL/6  
    polypeptide Q60722 UniProt | EBI | MGI Sequence Detail 670 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      42 Sequences
    • Protein Ontology
      PR:000016183 transcription factor 4
      (term hierarchy)
    • InterPro Domains
      IPR036638 Helix-loop-helix DNA-binding domain superfamily
      IPR011598 Myc-type, basic helix-loop-helix (bHLH) domain
      IPR051098 Neuronal Differentiation E-box Binding Transcription Factors
    • GlyGen
      Q60722 1 site, 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 64
      Genomic 1
      cDNA 48
      Primer pair 9
      Other 6

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-10807, MGD-MRK-14752, MGD-MRK-14758, MGI:1915012
    References
    more
    • Summaries
      All 218
      Developmental Gene Expression 75
      Diseases 4
      Gene Ontology 21
      Phenotypes 56
    • Earliest
      J:1499 Nielsen AL, et al., Murine helix-loop-helix transcriptional activator proteins binding to the E-box motif of the Akv murine leukemia virus enhancer identified by cDNA cloning. Mol Cell Biol. 1992 Aug;12(8):3449-59
    • Latest
      J:347801 Espinoza F, et al., Tcf4 dysfunction alters dorsal and ventral cortical neurogenesis in Pitt-Hopkins syndrome mouse model showing sexual dimorphism. Biochim Biophys Acta Mol Basis Dis. 2024 Apr 16;1870(5):167178
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory