About   Help   FAQ
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
  • Gene Overview
    MyGene.info: TCF4
  • Alliance
    gene page
Location & Maps
more
  • Sequence Map
    Chr18:69343356-69689079 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      345724 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 18, 43.23 cM, cytoband E2
  • Mapping Data
    4 experiments
Homology
more
  • Human Ortholog
    TCF4, transcription factor 4
  • Vertebrate Orthologs
    7
  • Human Ortholog
    TCF4, transcription factor 4
    Orthology source: HomoloGene, HGNC
  • Synonyms
    bHLHb19, E2-2, FECD3, ITF2, ITF-2, PTHS, SEF2, SEF-2, 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; chr18:55222331-55635993 (-)  GRCh38.p7
Human Diseases
more
  • Diseases
    1 with Tcf4 mouse models; 2 with human TCF4 associations

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

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    23 phenotypes from 5 alleles in 7 genetic backgrounds
    7 phenotypes from multigenic genotypes
    34 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
    54
  • GO References
    22
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
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
    270
  • Tissues
    219
  • cDNA Data
    41
  • Literature Summary
    39
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000021071 VEGA Gene Model | MGI Sequence Detail 345724 C57BL/6J ±  kb
transcript OTTMUST00000049864 VEGA | MGI Sequence Detail 4250 Not Applicable  
polypeptide OTTMUSP00000023178 VEGA | MGI Sequence Detail 692 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    2139 from dbSNP Build 142
Protein
Information
less
  • UniProt
    42 Sequences
  • InterPro Domains
    IPR036638 Helix-loop-helix DNA-binding domain superfamily
    IPR011598 Myc-type, basic helix-loop-helix (bHLH) domain
Molecular
Reagents
less
  • All nucleic 49
    Genomic 1
    cDNA 42
    Primer pair 4
    Other 2

    Microarray probesets 6
Other
Accession IDs
less
MGD-MRK-10807, MGD-MRK-14752, MGD-MRK-14758, MGI:1915012
References
more
  • Summaries
    All 159
    Developmental Gene Expression 39
    Diseases 1
    Gene Ontology 22
    Phenotypes 34
  • 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:254983 Thaxton C, et al., Common Pathophysiology in Multiple Mouse Models of Pitt-Hopkins Syndrome. J Neurosci. 2018 Jan 24;38(4):918-936
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support. 		last database update
04/17/2018
MGI 6.11 		The Jackson Laboratory