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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CDH2
cadherin 2
Chromosome 18 Β· 18q12.1
NCBI Gene: 1000Ensembl: ENSG00000170558.10HGNC: HGNC:1759UniProt: C9J126
419PubMed Papers
23Diseases
0Drugs
24Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub Gene
RESEARCH IMPACT
Highly StudiedTrending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
catenin complexcortical actin cytoskeletonalpha-catenin bindinggamma-catenin bindingagenesis of corpus callosum, cardiac, ocular, and genital syndromearrhythmogenic right ventricular dysplasia, familial, 14Agenesis of corpus callosumattention deficit-hyperactivity disorder 8
✦AI Summary

CDH2 (cadherin 2, also known as N-cadherin) is a calcium-dependent cell adhesion protein that mediates homotypic cell-cell adhesion through direct dimerization between cells 1. In neural tissues, CDH2 regulates neural stem cell quiescence by anchoring stem cells to ependymocytes, with cleavage by MMP24 modulating this interaction [UniProt]. CDH2 is essential for proper neurite branching, synaptic organization, dendritic spine density regulation, and axon outgrowth promotion [UniProt]. Mechanistically, CDH2 functions through binding to catenin complexes and regulates cortical actin cytoskeleton organization and cell-cell junction assembly [GO annotations]. In Sertoli cells, ALKBH5 regulates CDH2 mRNA translation via m6A modifications to maintain blood-testis barrier integrity 2. Clinically, CDH2 dysregulation associates with multiple pathologies. Elevated CDH2 expression in idiopathic pulmonary fibrosis fibroblasts contributes to excessive collagen production; CDH2 knockdown attenuates fibrotic markers 3. In acute leukemia, CDH2-mediated adhesion between leukemic cells and bone marrow niche cells confers chemotherapy resistance 4. CDH2 polymorphism (rs11083271) correlates with osteoarthritis risk, particularly in males 5. Additionally, CDH2 is implicated in anoikis-related pathways in osteoarthritis progression 6 and represents a therapeutic target in adrenocortical carcinoma 7. Germline mutations in CDH2 cause syndromic developmental disorders including agenesis of corpus callosum and arrhythmogenic right ventricular dysplasia.

Sources cited
1
CDH2 is upregulated in idiopathic pulmonary fibrosis and fibrotic fibroblasts; knockdown attenuates fibrotic markers
PMID: 38370408
2
CDH2 mediates leukaemia cell adhesion to bone marrow niche cells, conferring chemotherapy resistance
PMID: 37132370
3
CDH2 mediates cell-cell adhesion and regulates stem cell fate decisions through cadherin-mediated signaling
PMID: 25771201
4
ALKBH5 regulates CDH2 mRNA translation via m6A modifications to maintain blood-testis barrier integrity
PMID: 36418936
5
CDH2 rs11083271 polymorphism correlates with increased osteoarthritis risk, especially in males
PMID: 30403184
6
CDH2 identified as hub gene in anoikis-related pathways in osteoarthritis progression
PMID: 38423139
7
CDH2 is downregulated in adrenocortical carcinoma and serves as therapeutic target
PMID: 39545598
8
CDH2 undergoes selective autophagic degradation in ferroptosis pathway in cancer cells
PMID: 36734418
Disease Associationsβ“˜23
agenesis of corpus callosum, cardiac, ocular, and genital syndromeOpen Targets
0.80Strong
arrhythmogenic right ventricular dysplasia, familial, 14Open Targets
0.58Moderate
Agenesis of corpus callosumOpen Targets
0.51Moderate
attention deficit-hyperactivity disorder 8Open Targets
0.51Moderate
familial isolated arrhythmogenic ventricular dysplasia, right dominant formOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.35Weak
aortic valve diseaseOpen Targets
0.34Weak
auditory neuropathyOpen Targets
0.33Weak
Abnormality of refractionOpen Targets
0.32Weak
mathematical abilityOpen Targets
0.32Weak
post term pregnancyOpen Targets
0.30Weak
ventricular fibrillationOpen Targets
0.30Weak
intelligenceOpen Targets
0.29Weak
placental retentionOpen Targets
0.29Weak
breast carcinomaOpen Targets
0.28Weak
joint diseaseOpen Targets
0.27Weak
Cerebral arteriovenous malformationOpen Targets
0.27Weak
gastritisOpen Targets
0.24Weak
smoking initiationOpen Targets
0.23Weak
esophageal ulcerOpen Targets
0.22Weak
Agenesis of corpus callosum, cardiac, ocular, and genital syndromeUniProt
Arrhythmogenic right ventricular dysplasia, familial, 14UniProt
Attention deficit-hyperactivity disorder 8UniProt
Pathogenic Variants24
NM_001792.5(CDH2):c.702+1G>APathogenic
Agenesis of corpus callosum, cardiac, ocular, and genital syndrome|not provided
β˜…β˜…β˜†β˜†2025
NM_001792.5(CDH2):c.2027A>G (p.Tyr676Cys)Pathogenic
CDH2-related disorder|Axon pathfinding, cardiac, ocular and genital defects;Corpus callosum, agenesis of|Agenesis of corpus callosum, cardiac, ocular, and genital syndrome|not provided|Syndromic neurodevelopmental disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 676
NM_001792.5(CDH2):c.1344+1G>APathogenic
Arrhythmogenic right ventricular dysplasia, familial, 14|Agenesis of corpus callosum, cardiac, ocular, and genital syndrome
β˜…β˜…β˜†β˜†2022
NM_001792.5(CDH2):c.1879G>C (p.Asp627His)Likely pathogenic
Agenesis of corpus callosum, cardiac, ocular, and genital syndrome
β˜…β˜†β˜†β˜†2026β†’ Residue 627
NM_001792.5(CDH2):c.172+2T>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_001792.5(CDH2):c.1839C>G (p.Cys613Trp)Pathogenic
Axon pathfinding, cardiac, ocular and genital defects;Corpus callosum, agenesis of|not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 613
NM_001792.5(CDH2):c.1522G>A (p.Glu508Lys)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 508
NM_001792.5(CDH2):c.1344+1G>CPathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_001792.5(CDH2):c.345G>A (p.Trp115Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 115
NM_001792.5(CDH2):c.1805C>G (p.Ala602Gly)Likely pathogenic
Auditory neuropathy
β˜…β˜†β˜†β˜†2023β†’ Residue 602
NM_001792.5(CDH2):c.1321G>T (p.Asp441Tyr)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 441
NM_001792.5(CDH2):c.448C>T (p.His150Tyr)Likely pathogenic
Attention deficit-hyperactivity disorder 8|not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 150
NM_001792.5(CDH2):c.1159-1G>APathogenic
Arrhythmogenic right ventricular dysplasia, familial, 14
β˜…β˜†β˜†β˜†2023
NM_001792.5(CDH2):c.1344+5G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2022
NM_001792.5(CDH2):c.1057G>A (p.Asp353Asn)Likely pathogenic
Axon pathfinding, cardiac, ocular and genital defects;Corpus callosum, agenesis of|Syndromic neurodevelopmental disorder|Corpus callosum, agenesis of
β˜…β˜†β˜†β˜†2020β†’ Residue 353
NM_001792.5(CDH2):c.2075A>G (p.Asn692Ser)Likely pathogenic
Cerebral arteriovenous malformation
β˜…β˜†β˜†β˜†2018β†’ Residue 692
NM_001792.5(CDH2):c.1789G>A (p.Asp597Asn)Pathogenic
Axon pathfinding, cardiac, ocular and genital defects;Corpus callosum, agenesis of|Agenesis of corpus callosum, cardiac, ocular, and genital syndrome|Syndromic neurodevelopmental disorder
β˜†β˜†β˜†β˜†2020β†’ Residue 597
NM_001792.5(CDH2):c.1789G>T (p.Asp597Tyr)Pathogenic
Axon pathfinding, cardiac, ocular and genital defects;Corpus callosum, agenesis of|Agenesis of corpus callosum, cardiac, ocular, and genital syndrome
β˜†β˜†β˜†β˜†2020β†’ Residue 597
NM_001792.5(CDH2):c.2563_2564del (p.Leu855fs)Pathogenic
Axon pathfinding, cardiac, ocular and genital defects;Corpus callosum, agenesis of|Agenesis of corpus callosum, cardiac, ocular, and genital syndrome|Syndromic neurodevelopmental disorder
β˜†β˜†β˜†β˜†2020β†’ Residue 855
NM_001792.5(CDH2):c.2564_2567dup (p.Leu856fs)Pathogenic
Axon pathfinding, cardiac, ocular and genital defects;Corpus callosum, agenesis of|Agenesis of corpus callosum, cardiac, ocular, and genital syndrome|Syndromic neurodevelopmental disorder
β˜†β˜†β˜†β˜†2020β†’ Residue 856
View on ClinVar β†—
Related Genes
FGFR1Protein interaction100%CTNNA1Protein interaction100%KLRG1Protein interaction100%GRIA2Protein interaction98%PSEN1Protein interaction98%CDH5Protein interaction98%
Tissue Expression6 tissues
Heart
100%
Brain
17%
Liver
9%
Ovary
1%
Bone Marrow
0%
Lung
0%
Gene Interaction Network
Click a node to explore
CDH2FGFR1CTNNA1KLRG1GRIA2PSEN1CDH5
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P19022
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.34Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.21 [0.14–0.34]
RankingsWhere CDH2 stands among ~20K protein-coding genes
  • #680of 20,598
    Most Researched419 Β· top 5%
  • #1,996of 5,498
    Most Pathogenic Variants24
  • #1,424of 17,882
    Most Constrained (LOEUF)0.34 Β· top 10%
Genes detectedCDH2
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
The gene expression of CALD1, CDH2, and POSTN in fibroblast are related to idiopathic pulmonary fibrosis.
PMID: 38370408
Front Immunol Β· 2024
1.00
2
Autophagy-Dependent Ferroptosis in Cancer.
PMID: 36734418
Antioxid Redox Signal Β· 2023
0.90
3
Targeting N-cadherin (CDH2) and the malignant bone marrow microenvironment in acute leukaemia.
PMID: 37132370
Expert Rev Mol Med Β· 2023
0.80
4
Comprehensive analysis of anoikis-related genes in diagnosis osteoarthritis: based on machine learning and single-cell RNA sequencing data.
PMID: 38423139
Artif Cells Nanomed Biotechnol Β· 2024
0.70
5
A predicted epithelial-to-mesenchymal transition-associated mRNA/miRNA axis contributes to the progression of diabetic liver disease.
PMID: 39532948
Sci Rep Β· 2024
0.60