HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TCF4
transcription factor 4
Chromosome 18 · 18q21.2
NCBI Gene: 6925Ensembl: ENSG00000196628.20HGNC: HGNC:11634UniProt: A0A1B0GW91
315PubMed Papers
22Diseases
0Drugs
281Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTranscription Factor
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleusnucleoplasmbeta-catenin-TCF7L2 complexbeta-catenin-TCF complexPitt-Hopkins syndromecorneal dystrophy, Fuchs endothelial, 3Fuchs endothelial corneal dystrophyFuchs' endothelial dystrophy
✦AI Summary

TCF4 (transcription factor 4) is a sequence-specific DNA-binding transcription factor that activates gene expression by recognizing E-box motifs (5'-CANNTG-3') in target promoters. TCF4 functions as a key component of the Wnt/β-catenin signaling pathway, forming complexes with β-catenin to regulate transcription of target genes involved in cell differentiation and intestinal homeostasis 1. The protein plays critical roles in neuronal differentiation and intestinal stem cell biology, with TCF4 target genes specifically expressed in intestinal crypts 1. In disease contexts, TCF4 dysregulation contributes to multiple pathologies. In colorectal cancer, aberrant Wnt pathway activation leads to inappropriate TCF4-driven expression of oncogenic target genes 1. TCF4 mutations with microsatellite instability have been identified in leukemia and colon cancer, though frameshift mutants lose transcriptional activity 2. In gastric cancer, TCF7L2 (a TCF4 family member) promotes metastasis by transcriptionally activating PLAUR 3. TCF4 variants are also associated with type 2 diabetes risk and regulate metabolic genes controlling lipid metabolism and gluconeogenesis 4. Additionally, TCF7L2 dysfunction contributes to Paneth cell defects in Crohn's disease 5. Germline TCF4 mutations cause Pitt-Hopkins syndrome and Fuchs endothelial corneal dystrophy, highlighting its developmental importance.

Sources cited
1
TCF4 is a key transcriptional regulator of the intestinal Wnt/TCF signature gene program; aberrant activation contributes to colorectal cancer through inappropriate expression of TCF4 target genes in intestinal epithelial cells
PMID: 17320548
2
TCF4 mutations with microsatellite instability occur in leukemia and colon cancer; frameshift mutants lose transcriptional activity with beta-catenin
PMID: 15905022
3
TCF7L2 promotes gastric cancer metastasis and anoikis resistance by transcriptionally activating PLAUR, and is an independent risk factor for poor prognosis
PMID: 35864968
4
TCF7l2/TCF4 functions as a transcription factor for metabolic genes and is associated with type 2 diabetes; regulates fatty acid chain elongase HACD3 under lipid stress conditions
PMID: 40172138
5
TCF7L2 disturbance in the Wnt pathway contributes to defective antimicrobial Paneth cell function in small intestinal Crohn's disease
PMID: 21122555
Disease Associationsⓘ22
Pitt-Hopkins syndromeOpen Targets
0.85Strong
corneal dystrophy, Fuchs endothelial, 3Open Targets
0.72Strong
Fuchs endothelial corneal dystrophyOpen Targets
0.66Moderate
Fuchs' endothelial dystrophyOpen Targets
0.59Moderate
genetic disorderOpen Targets
0.55Moderate
major depressive disorderOpen Targets
0.54Moderate
Abnormality of the skeletal systemOpen Targets
0.54Moderate
schizophreniaOpen Targets
0.53Moderate
autism spectrum disorderOpen Targets
0.52Moderate
corneal diseaseOpen Targets
0.50Moderate
corneal dystrophyOpen Targets
0.49Moderate
Intellectual disabilityOpen Targets
0.49Moderate
TinnitusOpen Targets
0.48Moderate
cornea transplantationOpen Targets
0.48Moderate
Global developmental delayOpen Targets
0.48Moderate
type 2 diabetes mellitusOpen Targets
0.47Moderate
mathematical abilityOpen Targets
0.47Moderate
attention deficit hyperactivity disorderOpen Targets
0.46Moderate
diabetes mellitusOpen Targets
0.45Moderate
risk-taking behaviourOpen Targets
0.45Moderate
Corneal dystrophy, Fuchs endothelial, 3UniProt
Pitt-Hopkins syndromeUniProt
Pathogenic Variants281
NM_001083962.2(TCF4):c.759C>G (p.Ser253Arg)Pathogenic
not provided|Pitt-Hopkins syndrome
★★★☆2026→ Residue 253
NM_001083962.2(TCF4):c.1826T>C (p.Leu609Pro)Likely pathogenic
not provided|Pitt-Hopkins syndrome
★★★☆2026→ Residue 609
NM_001083962.2(TCF4):c.1817C>T (p.Thr606Ile)Likely pathogenic
Pitt-Hopkins syndrome
★★★☆2025→ Residue 606
NM_001083962.2(TCF4):c.1774G>A (p.Gly592Ser)Likely pathogenic
not provided|Pitt-Hopkins syndrome
★★★☆2024→ Residue 592
NM_001083962.2(TCF4):c.990G>A (p.Ser330=)Pathogenic
Pitt-Hopkins syndrome|not provided
★★★☆2024→ Residue 330
NM_001083962.2(TCF4):c.1744C>T (p.Arg582Cys)Likely pathogenic
Pitt-Hopkins syndrome|not provided
★★★☆2023→ Residue 582
NM_001083962.2(TCF4):c.1741G>T (p.Val581Phe)Likely pathogenic
Pitt-Hopkins syndrome
★★★☆2022→ Residue 581
NM_001083962.2(TCF4):c.1486G>T (p.Gly496Cys)Likely pathogenic
Pitt-Hopkins syndrome
★★★☆2021→ Residue 496
NM_001083962.2(TCF4):c.1916_1917del (p.Arg639fs)Likely pathogenic
not provided|Pitt-Hopkins syndrome
★★★☆2021→ Residue 639
NM_001083962.2(TCF4):c.2010_2011del (p.Gln670fs)Likely pathogenic
not provided|Pitt-Hopkins syndrome
★★★☆2021→ Residue 670
NM_001083962.2(TCF4):c.1086G>A (p.Trp362Ter)Likely pathogenic
not provided|Pitt-Hopkins syndrome
★★★☆2021→ Residue 362
NM_001083962.2(TCF4):c.1965dup (p.Gly656fs)Pathogenic
Pitt-Hopkins syndrome
★★★☆2021→ Residue 656
NM_001083962.2(TCF4):c.1739G>A (p.Arg580Gln)Pathogenic
Pitt-Hopkins syndrome|not provided|Malignant tumor of esophagus
★★★☆2021→ Residue 580
NM_001083962.2(TCF4):c.1727G>A (p.Arg576Gln)Pathogenic
not provided|Pitt-Hopkins syndrome|Inborn genetic diseases|Medulloblastoma SHH activated|TCF4-related disorder
★★★☆2021→ Residue 576
NM_001083962.2(TCF4):c.1738C>T (p.Arg580Trp)Pathogenic
Pitt-Hopkins syndrome|not provided|Severe intellectual deficiency|Inborn genetic diseases
★★★☆2021→ Residue 580
NM_001083962.2(TCF4):c.1733G>A (p.Arg578His)Pathogenic
Pitt-Hopkins syndrome|not provided|Microcephaly|Inborn genetic diseases|TCF4-related disorder|Pitt-Hopkins syndrome;Corneal dystrophy, Fuchs endothelial, 3
★★★☆2021→ Residue 578
NM_001083962.2(TCF4):c.1849G>A (p.Val617Ile)Pathogenic
not provided|Inborn genetic diseases|Pitt-Hopkins syndrome
★★☆☆2026→ Residue 617
NM_001083962.2(TCF4):c.1134del (p.Leu379fs)Pathogenic
not provided|Pitt-Hopkins syndrome
★★☆☆2026→ Residue 379
NM_001083962.2(TCF4):c.1732C>T (p.Arg578Cys)Pathogenic
not provided|Global developmental delay|Pitt-Hopkins syndrome
★★☆☆2025→ Residue 578
NM_001083962.2(TCF4):c.1705C>T (p.Arg569Trp)Pathogenic
Pitt-Hopkins syndrome;Corneal dystrophy, Fuchs endothelial, 3|Pitt-Hopkins syndrome
★★☆☆2025→ Residue 569
View on ClinVar ↗
Related Genes
PCP4Shared pathway100%SOX2Protein interaction100%PYGO2Protein interaction100%PPARGProtein interaction100%KLF4Protein interaction99%ID2Protein interaction98%
Tissue Expression6 tissues
Heart
100%
Brain
70%
Ovary
50%
Lung
49%
Bone Marrow
42%
Liver
9%
Gene Interaction Network
Click a node to explore
TCF4PCP4SOX2PYGO2PPARGKLF4ID2
PROTEIN STRUCTURE
Preparing viewer…
PDB6OD3 · 1.49 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.10Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.04 [0.02–0.10]
RankingsWhere TCF4 stands among ~20K protein-coding genes
  • #1,077of 20,598
    Most Researched315 · top 10%
  • #222of 5,498
    Most Pathogenic Variants281 · top 5%
  • #47of 17,882
    Most Constrained (LOEUF)0.10 · top 1%
Genes detectedTCF4
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
TCF7L2 promotes anoikis resistance and metastasis of gastric cancer by transcriptionally activating PLAUR.
PMID: 35864968
Int J Biol Sci · 2022
1.00
2
A Systematic Review of the Gene-Lifestyle Interactions on Metabolic Disease-Related Outcomes in Arab Populations.
PMID: 39125399
Nutrients · 2024
0.92
3
From mice to humans.
PMID: 22996130
Curr Diab Rep · 2012
0.90
4
Paneth's disease.
PMID: 21122555
J Crohns Colitis · 2010
0.80
5
Wnt signaling inside the nucleus.
PMID: 18177486
Cancer Sci · 2008
0.80