CDH1 (E-Cadherin) Gene: Function, Mutations, and Clinical Significance
A comprehensive biomedical overview of the CDH1 gene, its protein product E-cadherin, associated diseases, expression patterns, and mutation landscape.
Gene Information Card
| Symbol | CDH1 |
|---|---|
| Full Name | Cadherin 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 16q22.1 |
| NCBI Gene ID | 999 ncbi.nlm.nih.gov/gene/999 |
| Ensembl ID | ENSG00000039068 |
| UniProt ID | P12830 |
| OMIM ID | 192090 |
| HGNC ID | 1748 |
| Aliases | Arc-1, CDHE, ECAD, LCAM, UVO |
Description
The CDH1 gene encodes E-cadherin, a classical cadherin and transmembrane glycoprotein that mediates calcium-dependent cell-cell adhesion. It is a critical tumor suppressor in epithelial tissues, and its loss or dysfunction promotes invasion and metastasis. Germline mutations are associated with hereditary diffuse gastric cancer and lobular breast cancer, while somatic alterations occur in various sporadic cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary diffuse gastric cancer (HDGC) | Germline loss-of-function mutations in CDH1 lead to reduced E-cadherin expression, disrupting cell adhesion and promoting invasive gastric cancer. | ClinVar, OMIM |
| Invasive lobular breast cancer | Somatic or germline CDH1 mutations cause loss of E-cadherin, contributing to discohesive growth pattern characteristic of lobular carcinoma. | ClinVar, COSMIC |
| Colorectal cancer | Somatic mutations and promoter hypermethylation of CDH1 reduce E-cadherin expression, associated with epithelial-mesenchymal transition and metastasis. | COSMIC, NCBI |
| Endometrial cancer | Loss of E-cadherin expression correlates with aggressive tumor features and poor prognosis. | COSMIC |
| Gastric cancer (sporadic) | Somatic mutations and epigenetic silencing of CDH1 are frequent in diffuse-type gastric cancer. | COSMIC, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Breast | High | High |
| Stomach | High | High |
| Lung | Medium | Medium |
| Liver | Medium | Medium |
| Kidney | Medium | Medium |
| Brain | Low | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast) | High | Epithelial-like, strong E-cadherin expression |
| A549 (lung) | Medium | Moderate expression |
| HeLa (cervical) | Medium | Epithelial origin |
| HCT116 (colon) | High | Epithelial-like |
| MDA-MB-231 (breast) | Low | Mesenchymal-like, reduced E-cadherin |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1901C>T (p.Pro634Leu) | Missense | Rare in population; pathogenic in HDGC | Disrupts calcium-binding domain, impairing adhesion |
| c.1565+1G>A | Splice donor | Pathogenic in HDGC | Aberrant splicing leading to truncated protein |
| c.88C>T (p.Gln30Ter) | Nonsense | Pathogenic in HDGC | Premature stop codon, loss of function |
| c.1137G>A (p.Trp379Ter) | Nonsense | Somatic in gastric cancer | Loss of function |
| c.1018A>G (p.Thr340Ala) | Missense | Uncertain significance | Potential impact on adhesion |
Mutation functional classification
Loss of Function (LOF)
Most CDH1 mutations are loss-of-function, including nonsense, frameshift, splice-site, and large deletions, leading to reduced or absent E-cadherin protein, disrupting cell adhesion and promoting invasion.
Gain of Function (GOF)
Gain-of-function mutations are not typical for CDH1; it is a tumor suppressor, and no activating mutations have been characterized.
Dominant Negative (DN)
Some missense mutations in the extracellular domain can exert dominant-negative effects by interfering with wild-type E-cadherin function, though this is less common.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding | • cell adhesion molecule binding |
| • protein homodimerization activity | • cadherin binding |
| • cell-cell adhesion | • epithelial cell morphogenesis |
| • negative regulation of cell population proliferation | • cell migration |
Pathways
• Adherens junction (KEGG hsa04520)
• Cell adhesion molecules (CAMs) (KEGG hsa04514)
• Epithelial-to-mesenchymal transition (EMT)
• Wnt signaling pathway (regulation of beta-catenin)
Protein Summary
E-cadherin (UniProt P12830) is a 120 kDa transmembrane glycoprotein composed of an extracellular domain with five cadherin repeats, a single transmembrane domain, and a cytoplasmic tail that binds catenins (p120-catenin and beta-catenin). It mediates homophilic calcium-dependent cell-cell adhesion in adherens junctions. Loss of E-cadherin is a hallmark of epithelial-mesenchymal transition, leading to increased cell motility and invasion. The protein also sequesters beta-catenin, modulating Wnt signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CDH1 Knockout HEK293 Cell Line | EDJ-KQ1305 | Human | 999 | Details Get a Quote |
| CDH17 Knockout HEK293 Cell Line | EDJ-KQ3547 | Human | 1015 | Details Get a Quote |
| CDH12 Knockout HEK293 Cell Line | EDJ-KQ4238 | Human | 1010 | Details Get a Quote |
| CDH10 Knockout HEK293 Cell Line | EDJ-KQ4239 | Human | 1008 | Details Get a Quote |
| CDH16 Knockout HEK293 Cell Line | EDJ-KQ4240 | Human | 1014 | Details Get a Quote |
| CDH15 Knockout HEK293 Cell Line | EDJ-KQ4241 | Human | 1013 | Details Get a Quote |
| CDH13 Knockout HEK293 Cell Line | EDJ-KQ4242 | Human | 1012 | Details Get a Quote |
| CDH11 Knockout HEK293 Cell Line | EDJ-KQ4243 | Human | 1009 | Details Get a Quote |
| CDH18 Knockout HEK293 Cell Line | EDJ-KQ4244 | Human | 1016 | Details Get a Quote |
| PCDH1 Knockout HEK293 Cell Line | EDJ-KQ5408 | Human | 5097 | Details Get a Quote |
| PCDH11X Knockout HEK293 Cell Line | EDJ-KQ8010 | Human | 27328 | Details Get a Quote |
| PCDH17 Knockout HEK293 Cell Line | EDJ-KQ8731 | Human | 27253 | Details Get a Quote |
| CDH19 Knockout HEK293 Cell Line | EDJ-KQ8883 | Human | 28513 | Details Get a Quote |
| PCDH11Y Knockout HEK293 Cell Line | EDJ-KQ9837 | Human | 83259 | Details Get a Quote |
| PCDH18 Knockout HEK293 Cell Line | EDJ-KQ11446 | Human | 54510 | Details Get a Quote |
Displaying Records 1 To 15 Of 77 Records
- 1
- 2
- Next Page »
