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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
  • Transcription Start Sites
    58 TSS
  • Regulated by
    Rr1417 (1 regulatory region)
Location &
Maps
more
  • Sequence Map
    Chr18:69476500-69821038 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • 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
    19
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 ENSMUSG00200024396
protein coding gene Chr18:66705487-67041967 (+)
A/J ENSMUSG00195031471
protein coding gene Chr18:66742256-67078006 (+)
AKR/J ENSMUSG00220022192
protein coding gene Chr18:66680989-67016910 (+)
BALB/cJ ENSMUSG00180011486
protein coding gene Chr18:67309290-67645056 (+)
C3H/HeJ ENSMUSG00175010136
protein coding gene Chr18:66889104-67225025 (+)
C57BL/6NJ ENSMUSG00215011205
protein coding gene Chr18:66241007-66576617 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0022382
protein coding gene Chr18:66045122-66391709 (+)
CAST/EiJ ENSTCUG00005015210
protein coding gene Chr18:65897534-66235135 (+)
CBA/J ENSMUSG00210029196
protein coding gene Chr18:66847265-67183179 (+)
DBA/2J ENSMUSG00185028827
protein coding gene Chr18:66753241-67089178 (+)
FVB/NJ ENSMUSG00205009773
protein coding gene Chr18:66218304-66554192 (+)
JF1/MsJ ENSUMUG00000028912
protein coding gene Chr18:66683601-67021005 (+)
LP/J ENSMUSG00230034910
protein coding gene Chr18:68834195-69170614 (+)
NOD/ShiLtJ ENSMUSG00190007873
protein coding gene Chr18:66487501-66823199 (+)
NZO/HlLtJ ENSMUSG00225030084
protein coding gene Chr18:68694407-69030258 (+)
PWK/PhJ ENSLUMG00010025389
protein coding gene Chr18:67094555-67430389 (+)
SPRET/EiJ ENSMSPG00010034153
protein coding gene Chr18:67261632-67601344 (+)
WSB/EiJ ENSIUOG00005006029
protein coding gene Chr18:66301394-66636969 (+)



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
    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
    69 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
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  • All GO Annotations
  • GO References
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
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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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • 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
      44 Sequences
    • Protein Ontology
      PR:000016183 transcription factor 4
    • 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 3 sites, 1 O-linked glycan (3 sites)
    Molecular
    Reagents
    less
    • All nucleic 70
      Genomic 1
      cDNA 48
      Primer pair 14
      Other 7
      Antibodies 2

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-10807, MGD-MRK-14752, MGD-MRK-14758, MGI:1915012
    References
    more
    • Summaries
      All 264
      Developmental Gene Expression 83
      Diseases 4
      Gene Ontology 24
      Phenotypes 69
    • 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:389483 Paucar Iza YA, et al., Ontogeny and transcriptional regulation of Thetis cells. Nature. 2026 May;653(8114):538-547

    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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    last database update
    09/01/2026
    MGI 6.24
    The Jackson Laboratory