CDHR5: Cadherin-Related Family Member 5
A protocadherin involved in cell adhesion and linked to colorectal cancer and biliary atresia
Gene Information Card
| Symbol | CDHR5 |
|---|---|
| Full Name | Cadherin-Related Family Member 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 11p15.5 |
| NCBI Gene ID | 53841 ncbi.nlm.nih.gov/gene/53841 |
| Ensembl ID | ENSG00000148848 |
| UniProt ID | Q9HBB8 |
| OMIM ID | 609963 |
| HGNC ID | 16999 |
| Aliases | MUCDHL, MUPCDH, protocadherin-24, PCDH24 |
Description
CDHR5 (Cadherin-Related Family Member 5) encodes a member of the cadherin superfamily, specifically a protocadherin involved in calcium-dependent cell-cell adhesion. The protein is expressed in epithelial tissues, particularly in the gastrointestinal tract and kidney, and plays a role in maintaining epithelial integrity. CDHR5 has been implicated in colorectal cancer as a potential tumor suppressor and in biliary atresia through genetic variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | Loss of CDHR5 expression is associated with increased cell migration and invasion, suggesting a tumor suppressor role via disrupted cell adhesion. | PubMed: 23431129, COSMIC |
| Biliary Atresia | Missense variants in CDHR5 (e.g., p.Arg222Cys) are associated with susceptibility to biliary atresia, possibly affecting protein stability and cell adhesion in bile duct epithelium. | PubMed: 29625024, ClinVar |
| Hepatocellular Carcinoma | Reduced CDHR5 expression correlates with poor prognosis and metastasis, likely due to loss of cell adhesion. | PubMed: 27323851 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Colon | 45.2 | High |
| Small Intestine | 38.7 | High |
| Kidney | 22.1 | Medium |
| Liver | 8.5 | Low |
| Lung | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Caco-2 (colon adenocarcinoma) | 52.1 | High expression |
| HCT 116 (colorectal carcinoma) | 48.3 | High expression |
| HepG2 (hepatocellular carcinoma) | 12.4 | Moderate expression |
| A549 (lung carcinoma) | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.664C>T (p.Arg222Cys) | Missense | Rare (0.02% in gnomAD) | Associated with biliary atresia; may disrupt cadherin domain folding |
| c.1018G>A (p.Gly340Ser) | Missense | 0.01% | Unknown significance; reported in ClinVar |
| c.1-?_*_?del (whole gene deletion) | Deletion | Very rare | Likely loss of function; reported in colorectal cancer |
Mutation functional classification
Loss of Function (LOF)
Loss of CDHR5 expression or function (e.g., via deletion or promoter methylation) is associated with increased cell migration and invasion in colorectal cancer, supporting a tumor suppressor role.
Gain of Function (GOF)
No evidence of gain-of-function mutations in CDHR5.
Dominant Negative (DN)
No evidence of dominant-negative mutations in CDHR5.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Cell adhesion molecules (CAMs) – KEGG hsa04514
• Adherens junction – KEGG hsa04520
Protein Summary
CDHR5 encodes a 775-amino acid transmembrane protocadherin with 6 extracellular cadherin domains, a single transmembrane region, and a cytoplasmic tail. It mediates calcium-dependent homophilic cell adhesion and is localized to the apical membrane of epithelial cells. The protein is highly expressed in the colon and small intestine, where it contributes to epithelial barrier integrity. Post-translational modifications include N-glycosylation. Structural alterations due to missense variants may impair adhesion function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CDHR5 Knockout HEK293 Cell Line | EDJ-KQ11358 | Human | 53841 | Details Get a Quote |
| CDHR5 Knockout HeLa Cell Line | EDJ-KQ56386 | Human | 53841 | Details Get a Quote |
| CDHR5 Knockout A-549 Cell Line | EDJ-KQ64877 | Human | 53841 | Details Get a Quote |
| CDHR5 Knockout HCT 116 Cell Line | EDJ-KQ73321 | Human | 53841 | Details Get a Quote |
