HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CDHR2
cadherin related family member 2
Chromosome 5 · 5q35.2
NCBI Gene: 54825Ensembl: ENSG00000074276.12HGNC: HGNC:18231UniProt: Q9BYE9
21PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
microvillusbrush borderprotein bindingapical plasma membranerheumatic diseasesynovium disorderneurodegenerative diseasekidney disease
✦AI Summary

CDHR2 (cadherin-related family member 2) is an intermicrovillar adhesion molecule that forms calcium-dependent heterophilic complexes with CDHR5 on adjacent microvilli, thereby controlling microvillus packing and organization at the apical epithelial membrane 1. Through its extracellular domain, CDHR2 interacts with CDHR5, while its cytoplasmic domain engages microvillus proteins to form the intermicrovillar adhesion complex (IMAC), which plays a central role in brush border differentiation and microvillus stabilization 2. CDHR2 is enriched in intestinal tuft cells alongside IMAC components including CDHR5, Myosin 7b, and USH1C, regulating chemosensory microvillus organization 2. The protein also interacts with Harmonin through PDZ domain binding, a critical interaction relevant to Usher syndrome pathogenesis 3. Beyond epithelial function, CDHR2 serves as a proteomic biomarker for liver fat content and cardiometabolic disease risk 4, and is a key mediator protein in metabolic dysfunction-associated steatotic liver disease progression to liver fibrosis 5. CDHR2 is upregulated in lung adenocarcinoma and associated with poor prognosis 6, while its overexpression in breast cancer inhibits proliferation through PI3K/Akt pathway suppression 7, suggesting context-dependent roles in epithelial homeostasis and disease.

Sources cited
1
CDHR2 forms calcium-dependent complexes with CDHR5 and controls microvillus packing; interacts with microvillus cytoplasmic proteins to form IMAC complex central to brush border differentiation
PMID: 24725409
2
CDHR2 is enriched in intestinal tuft cells, colocalizes with tuft cell markers, and is a key component of murine and human intestinal tuft cells for microvillus organization
PMID: 39360911
3
CDHR2 tail binds to Harmonin PDZ2 domain; Harmonin mutations affecting CDHR2 binding contribute to Usher syndrome and enteropathy
PMID: 35747925
4
CDHR2 is part of a 10-protein liver fat content score that predicts cardiovascular-kidney-metabolic disease risk and shows superior diagnostic accuracy for hepatic steatosis
PMID: 41432036
5
CDHR2 is the key mediating protein linking MASLD to liver fibrosis progression independent of steatosis severity
PMID: 40378187
6
CDHR2 mRNA expression is upregulated in lung adenocarcinoma and associates with poor prognosis
PMID: 39419138
7
CDHR2 overexpression inhibits breast cancer cell proliferation and cell cycle progression via PI3K/Akt pathway suppression
PMID: 38977341
8
CDHR2 is identified as a shared hub gene between temporal lobe epilepsy and major depressive disorder with immune pathway involvement
PMID: 39976098
Disease Associationsⓘ20
rheumatic diseaseOpen Targets
0.28Weak
synovium disorderOpen Targets
0.25Weak
neurodegenerative diseaseOpen Targets
0.20Weak
kidney diseaseOpen Targets
0.17Weak
hepatocellular carcinomaOpen Targets
0.08Suggestive
Barrett's esophagusOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.05Suggestive
lagophthalmosOpen Targets
0.04Suggestive
esophageal adenocarcinomaOpen Targets
0.04Suggestive
breast cancerOpen Targets
0.03Suggestive
colorectal cancerOpen Targets
0.03Suggestive
hypertrophic cardiomyopathyOpen Targets
0.02Suggestive
Crohn's diseaseOpen Targets
0.02Suggestive
menopauseOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
infectionOpen Targets
0.02Suggestive
hepatitis C virus induced hepatocellular carcinomaOpen Targets
0.01Suggestive
urothelial carcinomaOpen Targets
0.01Suggestive
lung adenocarcinomaOpen Targets
0.01Suggestive
mucous membrane pemphigoidOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ANKS4BProtein interaction100%PCDH15Protein interaction99%MYO7BProtein interaction90%USH1CProtein interaction90%DCHS2Shared pathway67%CDHR5Protein interaction64%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
3%
Brain
1%
Lung
0%
Ovary
0%
Heart
0%
Gene Interaction Network
Click a node to explore
CDHR2ANKS4BPCDH15MYO7BUSH1CDCHS2CDHR5
PROTEIN STRUCTURE
Preparing viewer…
PDB5CZR · 2.30 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.88LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.75 [0.64–0.88]
RankingsWhere CDHR2 stands among ~20K protein-coding genes
  • #13,864of 20,598
    Most Researched21
  • #7,824of 17,882
    Most Constrained (LOEUF)0.88
Genes detectedCDHR2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Intestinal Tuft Cells Are Enriched With Protocadherins.
PMID: 39360911
J Histochem Cytochem · 2024
1.00
2
A Novel 10-Protein Score for Liver Fat Content Predicts Cardiovascular-Kidney-Metabolic Disease Risk.
PMID: 41432036
Adv Sci (Weinh) · 2026
0.90
3
Proteomic variation underlies the heterogeneous risk of metabolic dysfunction-associated steatotic liver disease for subsequent chronic diseases.
PMID: 40378187
Eur J Endocrinol · 2025
0.80
4
Exploring the Immune-related Molecular Mechanisms Underlying the Comorbidity of Temporal Lobe Epilepsy and Major Depressive Disorder through Integrated Data Set Analysis.
PMID: 39976098
Curr Mol Pharmacol · 2024
0.70
5
Proteomic and serological markers for diagnosing cardia gastric cancer and precursor lesions in a Chinese population.
PMID: 39455684
Sci Rep · 2024
0.60