CDHR2: Cadherin-Related Family Member 2
A cadherin superfamily protein involved in cell adhesion and intestinal barrier function.
Gene Information Card
| Symbol | CDHR2 |
|---|---|
| Full Name | Cadherin-Related Family Member 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q31.3 |
| NCBI Gene ID | 54825 ncbi.nlm.nih.gov/gene/54825 |
| Ensembl ID | ENSG00000113580 |
| UniProt ID | Q9BYE9 |
| OMIM ID | 609904 |
| HGNC ID | 14500 |
| Aliases | PCDH24, protocadherin-24, cadherin-related family member 2 |
Description
CDHR2 (Cadherin-Related Family Member 2) encodes a member of the cadherin superfamily of calcium-dependent cell adhesion proteins. The protein is primarily expressed in epithelial tissues, particularly in the intestine, where it localizes to the apical junctional complex and contributes to the maintenance of the intestinal epithelial barrier. CDHR2 is also known as protocadherin-24 (PCDH24) and plays a role in cell-cell adhesion and tissue integrity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Inflammatory Bowel Disease (IBD) | Altered CDHR2 expression may disrupt intestinal barrier function, contributing to IBD pathogenesis. | PubMed studies show reduced CDHR2 mRNA in IBD patient biopsies. |
| Colorectal Cancer | Loss of CDHR2 expression is associated with increased tumor invasiveness and poor prognosis. | Immunohistochemistry and RNA-seq data from TCGA indicate downregulation in colorectal tumors. |
| Celiac Disease | CDHR2 variants may influence intestinal permeability and susceptibility to celiac disease. | GWAS studies have identified CDHR2 as a candidate locus. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Colon | 48.5 | High |
| Small Intestine | 42.3 | High |
| Rectum | 35.1 | High |
| Stomach | 12.4 | Medium |
| Esophagus | 8.7 | Medium |
| Liver | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Caco-2 (colorectal adenocarcinoma) | 62.3 | High expression; used as model for intestinal barrier. |
| HT-29 (colorectal adenocarcinoma) | 45.1 | Moderate expression. |
| HCT 116 (colorectal carcinoma) | 28.7 | Lower expression compared to Caco-2. |
| HeLa (cervical adenocarcinoma) | 1.2 | Very low expression. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Premature stop; likely loss of function. |
| c.567G>A (p.Trp189*) | Nonsense | <0.01% | Premature stop; likely loss of function. |
| c.890A>G (p.Asn297Ser) | Missense | 0.02% | Unknown significance; predicted benign by SIFT. |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg412*, p.Trp189*) are predicted to cause loss of function by truncating the protein.
Gain of Function (GOF)
No gain-of-function mutations have been reported for CDHR2.
Dominant Negative (DN)
No dominant-negative mutations have been described for CDHR2.
View complete mutation data：
Gene Ontology (GO)
| • homophilic cell adhesion via plasma membrane adhesion molecules (GO:0007156) | • calcium ion binding (GO:0005509) |
| • integral component of membrane (GO:0016021) | • plasma membrane (GO:0005886) |
| • cell-cell junction (GO:0005911) | • cell-cell adhesion (GO:0098609) |
Pathways
• Cell adhesion molecules (CAMs) – KEGG hsa04514
• Adherens junction – KEGG hsa04520
• Tight junction – KEGG hsa04530
Protein Summary
CDHR2 is a single-pass type I membrane protein belonging to the cadherin superfamily. It contains extracellular cadherin repeats that mediate calcium-dependent homophilic cell adhesion. The protein is predominantly expressed in the intestinal epithelium, where it localizes to the apical junctional complex and contributes to barrier integrity. CDHR2 interacts with other junctional proteins and is implicated in maintaining epithelial polarity and tissue homeostasis. Loss of CDHR2 expression is associated with intestinal diseases and colorectal cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CDHR2 Knockout HEK293 Cell Line | EDJ-KQ12084 | Human | 54825 | Details Get a Quote |
| CDHR2 Knockout HeLa Cell Line | EDJ-KQ56478 | Human | 54825 | Details Get a Quote |
| CDHR2 Knockout A-549 Cell Line | EDJ-KQ64970 | Human | 54825 | Details Get a Quote |
| CDHR2 Knockout HCT 116 Cell Line | EDJ-KQ73416 | Human | 54825 | Details Get a Quote |
