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GeneE
50 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CDH1
cadherin 1
Chromosome 16 Β· 16q22.1
NCBI Gene: 999Ensembl: ENSG00000039068.21HGNC: HGNC:1748UniProt: A0A0U2ZQU7
2,233PubMed Papers
25Diseases
0Drugs
644Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
Highly StudiedTrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cortical actin cytoskeletonnegative regulation of cell migrationadherens junction organizationpositive regulation of protein import into nucleusCDH1-related diffuse gastric and lobular breast cancer syndromeblepharocheilodontic syndrome 1ovarian cancerendometrial carcinoma
✦AI Summary

CDH1 encodes E-cadherin, a transmembrane protein essential for cell-cell adhesion in epithelial tissues 1. It maintains cell-cell contact through cadherin binding and supports pluripotent stem cell integrity and colony formation 2. Beyond adhesion, CDH1 functions as a regulatory hub in cell cycle control: as an APC/C coactivator (APC/CCDH1), it regulates protein degradation during cell cycle progression 34. During G1 entry, mTOR-mediated phosphorylation transiently inactivates CDH1, allowing PFKFB3 accumulation and metabolic shift toward glycolysis necessary for cell cycle entry 3. CDH1 mutations drive hereditary diffuse gastric and lobular breast cancer (HDGLBC), accounting for 1-3% of gastric cancers 51. Germline CDH1 mutations require 'second-hit' inactivation via promoter methylation or loss of heterozygosity to trigger tumorigenesis 1. Prophylactic total gastrectomy between ages 20-30 is recommended for CDH1 mutation carriers, with 90-100% revealing microscopic diffuse-type cancer foci 5. CDH1 polymorphisms (rs16260, rs5030625) associate with increased gastric cancer risk in Caucasians and Asians respectively 6, while showing protective effects in colorectal cancer subgroups 7. HPV16/18 E7 proteins suppress CDH1 expression through CDH1 promoter hypermethylation and upregulation of transcriptional repressor SNAI1 in cervical cancer 8.

Sources cited
1
CDH1 encodes E-cadherin essential for cell-cell adhesion; germline mutations cause HDGLBC through second-hit mechanisms including promoter methylation
PMID: 40485214
2
E-cadherin maintains integrity and structure of human pluripotent stem cells by facilitating strong cell-cell adhesion and colony formation
PMID: 39121651
3
CDH1 functions as APC/C coactivator; mTOR-mediated phosphorylation transiently inactivates CDH1 to promote glycolysis during cell cycle entry
PMID: 40739344
4
CDH1 is sequential coactivator of APC/C that regulates protein degradation and cell cycle progression
PMID: 39567505
5
CDH1 gene mutations cause hereditary diffuse gastric cancer (1-3% of gastric cancers); prophylactic gastrectomy reveals microscopic cancer in 90-100% of asymptomatic carriers
PMID: 38755036
6
CDH1 polymorphisms rs16260 and rs5030625 associate with increased gastric cancer risk in Caucasians and Asians respectively
PMID: 38847676
7
CDH1 -160C/A polymorphism shows protective role in colorectal cancer, particularly distal CRC in Caucasians
PMID: 34097324
8
HPV16/18 E7 protein suppresses CDH1 expression through promoter hypermethylation and upregulation of SNAI1 transcriptional repressor in cervical cancer
PMID: 32319591
Disease Associationsβ“˜25
CDH1-related diffuse gastric and lobular breast cancer syndromeOpen Targets
0.80Strong
blepharocheilodontic syndrome 1Open Targets
0.76Strong
ovarian cancerOpen Targets
0.68Moderate
endometrial carcinomaOpen Targets
0.68Moderate
breast adenocarcinomaOpen Targets
0.62Moderate
ovarian neoplasmOpen Targets
0.61Moderate
Hereditary breast cancerOpen Targets
0.61Moderate
gastric cancerOpen Targets
0.61Moderate
hereditary diffuse gastric adenocarcinomaOpen Targets
0.60Moderate
gastric adenocarcinomaOpen Targets
0.59Moderate
hereditary neoplastic syndromeOpen Targets
0.58Moderate
Inherited cancer-predisposing syndromeOpen Targets
0.58Moderate
hereditary breast carcinomaOpen Targets
0.57Moderate
Blepharo-cheilo-odontic syndromeOpen Targets
0.56Moderate
prostate cancerOpen Targets
0.55Moderate
breast cancerOpen Targets
0.55Moderate
listeriosisOpen Targets
0.54Moderate
Familial prostate cancerOpen Targets
0.53Moderate
Familial gastric cancerOpen Targets
0.47Moderate
lobular breast carcinomaOpen Targets
0.46Moderate
Blepharocheilodontic syndrome 1UniProt
Breast cancer, lobularUniProt
Diffuse gastric and lobular breast cancer syndromeUniProt
Endometrial cancerUniProt
Ovarian cancerUniProt
Pathogenic Variants644
NM_004360.5(CDH1):c.2386dup (p.Arg796fs)Likely pathogenic
Hereditary diffuse gastric adenocarcinoma|Hereditary cancer-predisposing syndrome|Familial cancer of breast|CDH1-related diffuse gastric and lobular breast cancer syndrome
β˜…β˜…β˜…β˜†2024β†’ Residue 796
NM_004360.5(CDH1):c.531+1G>ALikely pathogenic
Hereditary cancer-predisposing syndrome|Hereditary diffuse gastric adenocarcinoma|CDH1-related diffuse gastric and lobular breast cancer syndrome
β˜…β˜…β˜…β˜†2024
NM_004360.5(CDH1):c.1008G>A (p.Glu336=)Pathogenic
Hereditary cancer-predisposing syndrome|Hereditary diffuse gastric adenocarcinoma|CDH1-related diffuse gastric and lobular breast cancer syndrome|Familial cancer of breast
β˜…β˜…β˜…β˜†2024β†’ Residue 336
NM_004360.5(CDH1):c.832+1G>APathogenic
Hereditary diffuse gastric adenocarcinoma|Hereditary cancer-predisposing syndrome|Malignant tumor of breast|not provided|CDH1-related diffuse gastric and lobular breast cancer syndrome|Familial cancer of breast
β˜…β˜…β˜…β˜†2024
NM_004360.5(CDH1):c.532-1G>CPathogenic
Hereditary diffuse gastric adenocarcinoma|Hereditary cancer-predisposing syndrome|not provided|Familial cancer of breast|CDH1-related diffuse gastric and lobular breast cancer syndrome
β˜…β˜…β˜…β˜†2024
NM_004360.5(CDH1):c.687+1G>APathogenic
Hereditary diffuse gastric adenocarcinoma|Hereditary cancer-predisposing syndrome|CDH1-related diffuse gastric and lobular breast cancer syndrome
β˜…β˜…β˜…β˜†2024
NM_004360.5(CDH1):c.2446A>T (p.Lys816Ter)Likely pathogenic
Hereditary cancer-predisposing syndrome|Hereditary diffuse gastric adenocarcinoma|CDH1-related diffuse gastric and lobular breast cancer syndrome|Familial cancer of breast
β˜…β˜…β˜…β˜†2024β†’ Residue 816
NM_004360.5(CDH1):c.1137+1G>APathogenic
Hereditary cancer-predisposing syndrome|Hereditary diffuse gastric adenocarcinoma|not provided|CDH1-related diffuse gastric and lobular breast cancer syndrome|Familial cancer of breast|CDH1-related disorder
β˜…β˜…β˜…β˜†2024
NM_004360.5(CDH1):c.2195G>A (p.Arg732Gln)Pathogenic
Hereditary diffuse gastric adenocarcinoma|Hereditary cancer-predisposing syndrome|not provided|CDH1-related diffuse gastric and lobular breast cancer syndrome|Familial cancer of breast
β˜…β˜…β˜…β˜†2023β†’ Residue 732
NM_004360.5(CDH1):c.1137+2T>CLikely pathogenic
Hereditary cancer-predisposing syndrome|Hereditary diffuse gastric adenocarcinoma|CDH1-related diffuse gastric and lobular breast cancer syndrome
β˜…β˜…β˜…β˜†2023
NM_004360.5(CDH1):c.1711+1G>CPathogenic
not provided|Hereditary diffuse gastric adenocarcinoma|Hereditary cancer-predisposing syndrome|CDH1-related diffuse gastric and lobular breast cancer syndrome
β˜…β˜…β˜…β˜†2023
NM_004360.5(CDH1):c.2439+5_2439+8delLikely pathogenic
Hereditary cancer-predisposing syndrome|Hereditary diffuse gastric adenocarcinoma|CDH1-related diffuse gastric and lobular breast cancer syndrome
β˜…β˜…β˜…β˜†2023
NM_004360.5(CDH1):c.1578G>A (p.Trp526Ter)Pathogenic
not provided|Hereditary diffuse gastric adenocarcinoma|CDH1-related diffuse gastric and lobular breast cancer syndrome
β˜…β˜…β˜…β˜†2023β†’ Residue 526
NM_004360.5(CDH1):c.49-2A>GPathogenic
Hereditary diffuse gastric adenocarcinoma|Hereditary cancer-predisposing syndrome|CDH1-related diffuse gastric and lobular breast cancer syndrome|Familial cancer of breast
β˜…β˜…β˜…β˜†2023
NM_004360.5(CDH1):c.2440-2A>GLikely pathogenic
Hereditary cancer-predisposing syndrome|not provided|CDH1-related diffuse gastric and lobular breast cancer syndrome|Hereditary diffuse gastric adenocarcinoma
β˜…β˜…β˜…β˜†2023
NM_004360.5(CDH1):c.2490dup (p.Leu831fs)Likely pathogenic
Hereditary cancer-predisposing syndrome|Hereditary diffuse gastric adenocarcinoma|CDH1-related diffuse gastric and lobular breast cancer syndrome
β˜…β˜…β˜…β˜†2023β†’ Residue 831
NM_004360.5(CDH1):c.1565+1G>APathogenic
Hereditary cancer-predisposing syndrome|Hereditary diffuse gastric adenocarcinoma|not provided|Familial cancer of breast;Hereditary diffuse gastric adenocarcinoma|Familial cancer of breast|CDH1-related diffuse gastric and lobular breast cancer syndrome|Thyroid cancer, nonmedullary, 1|Familial cancer of breast;Ovarian cancer
β˜…β˜…β˜…β˜†2023
NM_004360.5(CDH1):c.1565+2dupPathogenic
Hereditary diffuse gastric adenocarcinoma|Hereditary cancer-predisposing syndrome|not provided|Familial cancer of breast|CDH1-related diffuse gastric and lobular breast cancer syndrome
β˜…β˜…β˜…β˜†2023
NM_004360.5(CDH1):c.1137G>T (p.Thr379=)Likely pathogenic
Hereditary diffuse gastric adenocarcinoma|CDH1-related diffuse gastric and lobular breast cancer syndrome
β˜…β˜…β˜…β˜†2023β†’ Residue 379
NM_004360.5(CDH1):c.2100del (p.Val701fs)Pathogenic
not provided|Hereditary diffuse gastric adenocarcinoma|CDH1-related diffuse gastric and lobular breast cancer syndrome|CDH1-related disorder
β˜…β˜…β˜…β˜†2023β†’ Residue 701
View on ClinVar β†—
Related Genes
CTNNA1Protein interaction100%KLRG1Protein interaction100%SRCProtein interaction100%ITGAEProtein interaction100%CTTNProtein interaction100%ITGA1Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Liver
96%
Bone Marrow
80%
Lung
20%
Ovary
3%
Heart
0%
Gene Interaction Network
Click a node to explore
CDH1CTNNA1KLRG1SRCITGAECTTNITGA1
PROTEIN STRUCTURE
Preparing viewer…
PDB2OMZ Β· 1.60 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.51Moderately Constrained
pLIβ“˜
0.86Intermediate
Observed/Expected LoF0.38 [0.29–0.51]
RankingsWhere CDH1 stands among ~20K protein-coding genes
  • #44of 20,598
    Most Researched2,233 Β· top 1%
  • #75of 5,498
    Most Pathogenic Variants644 Β· top 5%
  • #3,140of 17,882
    Most Constrained (LOEUF)0.51 Β· top quartile
Genes detectedCDH1
Sources retrieved50 papers
Response timeβ€”
πŸ“„ Sources
50β–Ό
1
[Prophylactic gastrectomy].
PMID: 38755036
Bull Cancer Β· 2025
1.00
2
Transient APC/C inactivation by mTOR boosts glycolysis during cell cycle entry.
PMID: 40739344
Nature Β· 2025
0.90
3
Methylation Status of CDH1 Gene in Gastric Biopsy Specimens and Its Association with H. Pylori Infection.
PMID: 38156839
Asian Pac J Cancer Prev Β· 2023
0.88
4
E-cadherin (CDH1) gene -160C/A polymorphism and the risk of colorectal cancer: A meta-analysis involving 17,291 subjects.
PMID: 34097324
J Gene Med Β· 2021
0.80
5
Comparison of CDH1 Gene Hypermethylation Status in Blood and Serum among Gastric Cancer Patients.
PMID: 30989488
Pathol Oncol Res Β· 2020
0.78