CDH22 (Cadherin 22)
A cadherin family member involved in cell adhesion and potential roles in cancer and neurodevelopment.
Gene Information Card
| Symbol | CDH22 |
|---|---|
| Full Name | Cadherin 22 |
| Gene Type | Protein-coding |
| Chromosomal Location | 20q13.12 |
| NCBI Gene ID | 64405 ncbi.nlm.nih.gov/gene/64405 |
| Ensembl ID | ENSG00000101210 |
| UniProt ID | Q9Y6N8 |
| OMIM ID | 609151 |
| HGNC ID | 1810 |
| Aliases | CDH22, cadherin-22, FLJ20321 |
Description
CDH22 encodes cadherin 22, a classical cadherin that mediates calcium-dependent cell-cell adhesion. It is expressed in various tissues and is implicated in neural development and cancer progression. The protein contains cadherin repeats and a cytoplasmic domain that interacts with catenins.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Gastric cancer | Altered CDH22 expression may affect cell adhesion and promote invasion. | NCBI Gene, COSMIC |
| Colorectal cancer | Downregulation of CDH22 is associated with metastasis. | NCBI Gene, COSMIC |
| Schizophrenia | Genetic variants in CDH22 may contribute to neurodevelopmental susceptibility. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 2.3 | Low |
| Lung | 1.8 | Low |
| Stomach | 4.5 | Medium |
| Colon | 3.2 | Medium |
| Kidney | 1.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 2.0 | Low expression |
| A549 (lung cancer) | 1.5 | Low expression |
| HCT116 (colorectal cancer) | 3.8 | Medium expression |
| K562 (leukemia) | 0.9 | Not detected |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | <0.1% | Unknown functional impact |
| c.567delA (p.Glu190fs) | Frameshift | <0.01% | Predicted loss of function |
| c.890G>A (p.Arg297His) | Missense | 0.05% | Reported in COSMIC for colorectal cancer |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.567delA) are predicted to truncate the protein, impairing cell adhesion.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Missense mutations in the extracellular domain may disrupt cadherin interactions, potentially acting in a dominant-negative manner.
View complete mutation data:
Gene Ontology (GO)
| • cell adhesion | • calcium ion binding |
| • homophilic cell adhesion via plasma membrane adhesion molecules | • plasma membrane |
| • cadherin binding |
Pathways
• Cell adhesion molecules (CAMs)
• Wnt signaling pathway
• Cadherin signaling pathway
Protein Summary
Cadherin 22 is a 794-amino acid transmembrane glycoprotein with five extracellular cadherin repeats, a single transmembrane domain, and a cytoplasmic tail that binds catenins. It mediates homophilic cell adhesion and is involved in tissue morphogenesis and maintenance. Expression is altered in several cancers, suggesting a role in tumor suppression or progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CDH22 Knockout HEK293 Cell Line | EDJ-KQ12838 | Human | 64405 | Details Get a Quote |
| CDH22 Knockout HeLa Cell Line | EDJ-KQ57053 | Human | 64405 | Details Get a Quote |
| CDH22 Knockout A-549 Cell Line | EDJ-KQ65566 | Human | 64405 | Details Get a Quote |
| CDH22 Knockout HCT 116 Cell Line | EDJ-KQ73995 | Human | 64405 | Details Get a Quote |
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