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GeneE
25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CDX2
caudal type homeobox 2
Chromosome 13 · 13q12.2
NCBI Gene: 1045Ensembl: ENSG00000165556.11HGNC: HGNC:1806UniProt: Q99626
397PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
RESEARCH IMPACT
Highly StudiedTrending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA polymerase II cis-regulatory region sequence-specific DNA bindingprotein bindingmethyl-CpG bindingDNA-binding transcription repressor activity, RNA polymerase II-specificneurodegenerative diseasemultiple congenital anomalies/dysmorphic syndrome-intellectual disabilitygastrointestinal stromal tumorlung carcinoma
✦AI Summary

CDX2 is an intestine-specific transcription factor that functions as a master regulator of intestinal epithelial development and homeostasis 1. As a sequence-specific DNA-binding protein, CDX2 activates transcription of multiple intestinal genes including sucrase-isomaltase, lactase-phlorizin hydrolase, claudin-2, and mucin-2, while preferentially binding methylated DNA sequences 2. In extraembryonic mesoderm, CDX2 dose-dependently regulates developmental gene networks, including VEGF and non-canonical WNT pathways critical for vascular development and allantoic elongation 3. Clinically, CDX2 functions as a tumor suppressor in colorectal cancer. CDX2 knockdown promotes colon cancer cell proliferation and tumor formation by suppressing Wnt/β-catenin signaling through transactivation of GSK-3β and Axin2 4. Conversely, CDX2 downregulation in low-mutation CRC variants drives metastasis through intrinsic WNT pathway activation independent of classical APC/CTNNB1 mutations 5. CDX2 loss or reduction is frequently observed in gastrointestinal cancers and pre-cancerous lesions such as Barrett's esophagus and intestinal metaplasia, suggesting loss of CDX2 expression may represent an early oncogenic event 6. Beyond CRC, CDX2 expression patterns help stratify pancreatic neuroendocrine tumors into prognostically distinct subgroups 7.

Sources cited
1
CDX2 encodes a transcription factor expressed in the intestine involved in proliferation and differentiation of intestinal epithelial cells; located on chromosome 13q12-13
PMID: 9459001
2
CDX2 binds preferentially to methylated DNA
PMID: 28473536
3
CDX2 dose-dependently regulates gene networks in extraembryonic mesoderm development, including VEGF and non-canonical WNT pathways critical for vascular development
PMID: 38451093
4
CDX2 inhibits colon cancer cell proliferation and tumor formation by suppressing Wnt/β-catenin signaling through transactivation of GSK-3β and Axin2
PMID: 30631044
5
CDX2 downregulation drives WNT pathway activation and metastasis in colorectal cancer lacking classical APC/CTNNB1 mutations
PMID: 40189705
6
CDX2 is crucial for development of pre-cancerous lesions such as Barrett's esophagus and intestinal metaplasia; has tumor suppressive role in colorectal cancers
PMID: 27729732
7
CDX2 expression patterns help stratify pancreatic neuroendocrine tumors into prognostically distinct subgroups
PMID: 39147030
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.53Moderate
multiple congenital anomalies/dysmorphic syndrome-intellectual disabilityOpen Targets
0.50Moderate
gastrointestinal stromal tumorOpen Targets
0.38Weak
lung carcinomaOpen Targets
0.37Weak
Endometrial Endometrioid AdenocarcinomaOpen Targets
0.37Weak
nodular melanomaOpen Targets
0.37Weak
superficial spreading melanomaOpen Targets
0.37Weak
esophageal adenocarcinomaOpen Targets
0.30Weak
colorectal adenocarcinomaOpen Targets
0.30Weak
esophageal squamous cell carcinomaOpen Targets
0.30Weak
gastric carcinomaOpen Targets
0.30Weak
lung adenocarcinomaOpen Targets
0.30Weak
cutaneous melanomaOpen Targets
0.29Weak
gastric adenocarcinomaOpen Targets
0.29Weak
hepatocellular carcinomaOpen Targets
0.28Weak
melanomaOpen Targets
0.28Weak
colon adenocarcinomaOpen Targets
0.28Weak
rectal adenocarcinomaOpen Targets
0.28Weak
small cell lung carcinomaOpen Targets
0.28Weak
pancreatic ductal adenocarcinomaOpen Targets
0.28Weak
Pathogenic Variants1
NM_001265.6(CDX2):c.940T>C (p.Ter314Arg)Likely pathogenic
Sirenomelia
★☆☆☆2020→ Residue 314
View on ClinVar ↗
Related Genes
KRT20Protein interaction92%ESRRBProtein interaction91%GATA6Protein interaction88%KRT7Protein interaction88%SYPProtein interaction87%SOX2Protein interaction87%
Tissue Expression6 tissues
Liver
100%
Ovary
33%
Brain
0%
Heart
0%
Bone Marrow
0%
Lung
0%
Gene Interaction Network
Click a node to explore
CDX2KRT20ESRRBGATA6KRT7SYPSOX2
PROTEIN STRUCTURE
Preparing viewer…
PDB6ES3 · 2.57 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.61LoF Tolerant
pLIⓘ
0.79Intermediate
Observed/Expected LoF0.34 [0.20–0.61]
RankingsWhere CDX2 stands among ~20K protein-coding genes
  • #739of 20,598
    Most Researched397 · top 5%
  • #4,640of 5,498
    Most Pathogenic Variants1
  • #4,218of 17,882
    Most Constrained (LOEUF)0.61 · top quartile
Genes detectedCDX2
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
CDX2 inhibits the proliferation and tumor formation of colon cancer cells by suppressing Wnt/β-catenin signaling via transactivation of GSK-3β and Axin2 expression.
PMID: 30631044
Cell Death Dis · 2019
1.00
2
CDX2 dose-dependently influences the gene regulatory network underlying human extraembryonic mesoderm development.
PMID: 38451093
Biol Open · 2024
0.90
3
Impact of homeobox genes in gastrointestinal cancer.
PMID: 27729732
World J Gastroenterol · 2016
0.80
4
Role of Immunohistochemistry in the Diagnosis of Pilomatrical Tumors.
PMID: 39450990
Am J Surg Pathol · 2024
0.70
5
The effect of miR-372-5p regulation on CDX1 and CDX2 in the gastric cancer cell line.
PMID: 36848481
Horm Mol Biol Clin Investig · 2023
0.60