CDH7 Gene - Cadherin 7
Type II Classical Cadherin Involved in Neural Development and Cancer
Gene Information Card
| Symbol | CDH7 |
|---|---|
| Full Name | Cadherin 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 18q22.1 |
| NCBI Gene ID | 1005 ncbi.nlm.nih.gov/gene/1005 |
| Ensembl ID | ENSG00000140937 |
| UniProt ID | Q9ULB5 |
| OMIM ID | 605629 |
| HGNC ID | 1756 |
| Aliases | CDH7L1, cadherin-7, N-cadherin-2 |
Description
CDH7 encodes cadherin 7, a type II classical cadherin that mediates calcium-dependent cell-cell adhesion. It is primarily expressed in the nervous system and plays a role in neural development, axon guidance, and synapse formation. CDH7 is also implicated in cancer progression and metastasis through altered adhesion properties.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Loss of CDH7 expression may promote epithelial-mesenchymal transition and invasion | PMID: 23454898 |
| Breast cancer | CDH7 hypermethylation associated with reduced adhesion and increased metastasis | PMID: 25656848 |
| Neurodevelopmental disorders | Rare variants in CDH7 linked to intellectual disability and autism spectrum disorder | PMID: 27569545 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Kidney | 6.1 | Low |
| Lung | 4.7 | Not detected |
| Liver | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | Neuronal model |
| MCF7 (breast cancer) | 3.4 | Low expression |
| HCT116 (colorectal) | 1.8 | Very low |
| HEK293 (embryonic kidney) | 0.9 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1250G>A (p.Arg417Gln) | Missense | 0.01% | Altered calcium binding and adhesion |
| c.1876C>T (p.Arg626Trp) | Missense | 0.005% | Impaired dimerization |
| c.2143_2145del (p.Val715del) | In-frame deletion | 0.002% | Loss of cell adhesion function |
Mutation functional classification
Loss of Function (LOF)
Missense and deletion variants that disrupt calcium binding or extracellular domain structure, reducing adhesion.
Gain of Function (GOF)
Not reported in CDH7.
Dominant Negative (DN)
Truncating or missense variants that interfere with wild-type cadherin function in heterodimers.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Cell adhesion molecules (CAMs) – KEGG hsa04514
• Adherens junction – KEGG hsa04520
• Wnt signaling pathway – KEGG hsa04310
Protein Summary
Cadherin 7 is a 794-amino acid single-pass type I membrane protein with five extracellular cadherin repeats, a transmembrane domain, and a cytoplasmic tail that binds catenins. It mediates calcium-dependent homophilic cell-cell adhesion and is critical for neural circuit formation. The protein is expressed in developing and adult brain, with lower levels in other tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CDH7 Knockout HEK293 Cell Line | EDJ-KQ4235 | Human | 1005 | Details Get a Quote |
| CDH7 Knockout HeLa Cell Line | EDJ-KQ52855 | Human | 1005 | Details Get a Quote |
| CDH7 Knockout A-549 Cell Line | EDJ-KQ61321 | Human | 1005 | Details Get a Quote |
| CDH7 Knockout HCT 116 Cell Line | EDJ-KQ69818 | Human | 1005 | Details Get a Quote |
