This gene encodes a classical cadherin and member of the cadherin superfamily. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein is proteolytically processed to generate a calcium-dependent cell adhesion molecule and glycoprotein. This protein plays a role in the establishment of left-right asymmetry, development of the ... See more...

Aliases for CDH2 Gene

Aliases for CDH2 Gene

  • Cadherin 2 2 3 5
  • CDHN 2 3 4
  • Cadherin 2, Type 1, N-Cadherin (Neuronal) 2 3
  • Neural Cadherin 3 4
  • N-Cadherin 2 4
  • Cadherin-2 3 4
  • CDw325 3 4
  • CD325 2 3
  • NCAD 3 4
  • Calcium-Dependent Adhesion Protein, Neuronal 3
  • CD325 Antigen 4
  • N-Cadherin 1 3
  • ARVD14 3
  • ACOGS 3
  • CDH2 5

External Ids for CDH2 Gene

Previous HGNC Symbols for CDH2 Gene

  • NCAD

Previous GeneCards Identifiers for CDH2 Gene

  • GC18M025465
  • GC18M025261
  • GC18M023782
  • GC18M023784
  • GC18M022383
  • GC18M025530

Summaries for CDH2 Gene

Entrez Gene Summary for CDH2 Gene

  • This gene encodes a classical cadherin and member of the cadherin superfamily. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein is proteolytically processed to generate a calcium-dependent cell adhesion molecule and glycoprotein. This protein plays a role in the establishment of left-right asymmetry, development of the nervous system and the formation of cartilage and bone. [provided by RefSeq, Nov 2015]

GeneCards Summary for CDH2 Gene

CDH2 (Cadherin 2) is a Protein Coding gene. Diseases associated with CDH2 include Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome and Arrhythmogenic Right Ventricular Dysplasia, Familial, 14. Among its related pathways are Presenilin-Mediated Signaling and Blood-Brain Barrier and Immune Cell Transmigration: Pathways Overview. Gene Ontology (GO) annotations related to this gene include calcium ion binding and protein phosphatase binding. An important paralog of this gene is CDH4.

UniProtKB/Swiss-Prot Summary for CDH2 Gene

  • Calcium-dependent cell adhesion protein; preferentially mediates homotypic cell-cell adhesion by dimerization with a CDH2 chain from another cell. Cadherins may thus contribute to the sorting of heterogeneous cell types. Acts as a regulator of neural stem cells quiescence by mediating anchorage of neural stem cells to ependymocytes in the adult subependymal zone: upon cleavage by MMP24, CDH2-mediated anchorage is affected, leading to modulate neural stem cell quiescence. Plays a role in cell-to-cell junction formation between pancreatic beta cells and neural crest stem (NCS) cells, promoting the formation of processes by NCS cells (By similarity). CDH2 may be involved in neuronal recognition mechanism. In hippocampal neurons, may regulate dendritic spine density.

Gene Wiki entry for CDH2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CDH2 Gene

Genomics for CDH2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CDH2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH18J028171 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 259.2 +2.2 2245 7.8 ZNF600 CEBPA ZIC2 ZBTB10 YY1 FEZF1 ZNF341 ZEB1 SIN3A KMT2B CDH2 HSALNG0120616 HSALNG0120617-001 HSALNG0120617-002 ENSG00000274578 CHST9
GH18J028108 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 20.7 +65.3 65345 10 ZNF654 ZNF600 JUND YY1 FEZF1 CTCF RXRA RAD21 PRDM6 HNF4A CDH2 ENSG00000274578 HSALNG0120614 CHST9
GH18J028083 Enhancer 1.3 VISTA ENCODE CraniofacialAtlas dbSUPER 15.7 +91.6 91550 5 ZNF600 CEBPA YY1 FEZF1 ZNF513 FOXA2 RXRA ZNF843 PRDM6 HNF4A CDH2 CHST9 HSALNG0120614 ENSG00000274578
GH18J028090 Enhancer 1 Ensembl ENCODE 15 +86.8 86830 1.7 CEBPA YY1 HOMEZ THAP11 FOXA2 KDM6A SMAD4 RXRA SAP130 RARA CDH2 HSALNG0120614 ENSG00000274578 CHST9
GH18J028147 Enhancer 0.8 Ensembl ENCODE dbSUPER 16.6 +29.8 29761 1.2 CEBPB ZBTB33 ZNF652 NFIA TRIM28 HLF NR2F2 ENSG00000274578 CDH2 HSALNG0120616 CHST9
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CDH2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CDH2

Top Transcription factor binding sites by QIAGEN in the CDH2 gene promoter:
  • ATF
  • FOXO4
  • HNF-3beta
  • IRF-2
  • LyF-1
  • Nkx2-2
  • Nkx2-5
  • Sp1
  • SRF (504 AA)

Genomic Locations for CDH2 Gene

Latest Assembly
chr18:27,932,878-28,177,946
(GRCh38/hg38)
Size:
245,069 bases
Orientation:
Minus strand

Previous Assembly
chr18:25,530,930-25,757,094
(GRCh37/hg19 by Entrez Gene)
Size:
226,165 bases
Orientation:
Minus strand

chr18:25,530,930-25,757,410
(GRCh37/hg19 by Ensembl)
Size:
226,481 bases
Orientation:
Minus strand

Genomic View for CDH2 Gene

Genes around CDH2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CDH2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CDH2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CDH2 Gene

Proteins for CDH2 Gene

  • Protein details for CDH2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P19022-CADH2_HUMAN
    Recommended name:
    Cadherin-2
    Protein Accession:
    P19022
    Secondary Accessions:
    • A8MWK3
    • B0YIY6
    • Q14923
    • Q8N173

    Protein attributes for CDH2 Gene

    Size:
    906 amino acids
    Molecular mass:
    99809 Da
    Quaternary structure:
    • Homodimer (via extracellular region). Can also form heterodimers with other cadherins (via extracellular region). Dimerization occurs in trans, i.e. with a cadherin chain from another cell (By similarity). Interacts with CDCP1 (PubMed:16007225). Interacts with PCDH8; this complex may also include TAOK2 (By similarity). The interaction with PCDH8 may lead to internalization through TAOK2/p38 MAPK pathway (By similarity). Identified in a complex containing FGFR4, NCAM1, CDH2, PLCG1, FRS2, SRC, SHC1, GAP43 and CTTN. May interact with OBSCN (via protein kinase domain 2) (By similarity).

    Alternative splice isoforms for CDH2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CDH2 Gene

Post-translational modifications for CDH2 Gene

  • Cleaved by MMP24. Ectodomain cleavage leads to the generation of a soluble 90 kDa N-terminal soluble fragment and a 45 kDa membrane-bound C-terminal fragment 1 (CTF1), which is further cleaved by gamma-secretase into a 35 kDa (By similarity). Cleavage in neural stem cells by MMP24 affects CDH2-mediated anchorage of neural stem cells to ependymocytes in the adult subependymal zone, leading to modulate neural stem cell quiescence (By similarity).
  • May be phosphorylated by OBSCN.
  • Glycosylation at Asn190, Asn273, Asn325, Asn402, Asn572, Asn651, and Asn692
  • Ubiquitination at Lys756
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • CADH2_HUMAN (733)

Antibodies for research

No data available for DME Specific Peptides for CDH2 Gene

Domains & Families for CDH2 Gene

Gene Families for CDH2 Gene

HGNC:
Human Protein Atlas (HPA):
  • CD markers
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for CDH2 Gene

InterPro:
Blocks:
  • Cadherin cytoplasmic region
  • Cadherin
  • Desmocollin signature

Suggested Antigen Peptide Sequences for CDH2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ53252, highly similar to Cadherin-2 (A8MWK3_HUMAN)
  • Neural cadherin (CADH2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P19022

UniProtKB/Swiss-Prot:

CADH2_HUMAN :
  • Three calcium ions are usually bound at the interface of each cadherin domain and rigidify the connections, imparting a strong curvature to the full-length ectodomain. Calcium-binding sites are occupied sequentially in the order of site 3, then site 2 and site 1.
Domain:
  • Three calcium ions are usually bound at the interface of each cadherin domain and rigidify the connections, imparting a strong curvature to the full-length ectodomain. Calcium-binding sites are occupied sequentially in the order of site 3, then site 2 and site 1.
genes like me logo Genes that share domains with CDH2: view

Function for CDH2 Gene

Molecular function for CDH2 Gene

UniProtKB/Swiss-Prot Function:
Calcium-dependent cell adhesion protein; preferentially mediates homotypic cell-cell adhesion by dimerization with a CDH2 chain from another cell. Cadherins may thus contribute to the sorting of heterogeneous cell types. Acts as a regulator of neural stem cells quiescence by mediating anchorage of neural stem cells to ependymocytes in the adult subependymal zone: upon cleavage by MMP24, CDH2-mediated anchorage is affected, leading to modulate neural stem cell quiescence. Plays a role in cell-to-cell junction formation between pancreatic beta cells and neural crest stem (NCS) cells, promoting the formation of processes by NCS cells (By similarity). CDH2 may be involved in neuronal recognition mechanism. In hippocampal neurons, may regulate dendritic spine density.
GENATLAS Biochemistry:
cadherin 2,N-cadherin,transmembrane glycoproteincomponent of adherens junction,containing a CCG repeat in 5'utr,transmembrane glycoprotein component of adherens junction,expressed in brain,putatively involved in synaptic adhesion,axon outgrowth and guidance,also expressed in muscle

Phenotypes From GWAS Catalog for CDH2 Gene

Gene Ontology (GO) - Molecular Function for CDH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA,ISS --
GO:0005515 protein binding IPI 7650039
GO:0008013 beta-catenin binding TAS 16344550
GO:0019899 enzyme binding IEA --
GO:0019901 protein kinase binding IEA --
genes like me logo Genes that share ontologies with CDH2: view
genes like me logo Genes that share phenotypes with CDH2: view

Human Phenotype Ontology for CDH2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CDH2 Gene

MGI Knock Outs for CDH2:

Animal Models for research

  • Taconic Biosciences Mouse Models for CDH2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CDH2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CDH2 Gene

Localization for CDH2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CDH2 Gene

Cell membrane. Single-pass type I membrane protein. Cell membrane, sarcolemma. Cell junction. Cell surface. Note=Colocalizes with TMEM65 at the intercalated disk in cardiomyocytes. Colocalizes with OBSCN at the intercalated disk and at sarcolemma in cardiomyocytes. {ECO:0000250 UniProtKB:P15116}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CDH2 gene
Compartment Confidence
plasma membrane 5
extracellular 4
cytoskeleton 4
endoplasmic reticulum 4
nucleus 3
mitochondrion 2
peroxisome 2
endosome 2
cytosol 2
lysosome 2
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (3)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CDH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA,IDA 22467863
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0005886 plasma membrane IEA,TAS --
GO:0005887 integral component of plasma membrane ISS --
GO:0005911 cell-cell junction IDA 7650039
genes like me logo Genes that share ontologies with CDH2: view

Pathways & Interactions for CDH2 Gene

genes like me logo Genes that share pathways with CDH2: view

Pathways by source for CDH2 Gene

1 Sino Biological pathway for CDH2 Gene
3 GeneGo (Thomson Reuters) pathways for CDH2 Gene
  • Cell adhesion_Cadherin-mediated cell adhesion
  • Cell adhesion_Endothelial cell contacts by junctional mechanisms
  • Cell adhesion_Endothelial cell contacts by non-junctional mechanisms
9 Qiagen pathways for CDH2 Gene
  • Epithelial Adherens Junctions
  • G12-G13 in Cellular Signaling
  • Germ Cell-Sertoli Cell Junction Dynamics
  • GSK3 Signaling
  • ILK Signaling
1 Cell Signaling Technology pathway for CDH2 Gene
1 GeneTex pathway for CDH2 Gene

SIGNOR curated interactions for CDH2 Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for CDH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003323 type B pancreatic cell development ISS --
GO:0007043 cell-cell junction assembly ISS --
GO:0007155 cell adhesion IEA,TAS 2384753
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IEA,IBA 21873635
GO:0007157 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules IEA --
genes like me logo Genes that share ontologies with CDH2: view

Drugs & Compounds for CDH2 Gene

(22) Drugs for CDH2 Gene - From: PharmGKB, ApexBio, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Methadone Approved Pharma 418
ADH-1 Investigational Pharma 0
Calcium Nutra 6959
Cadherin Peptide, avian Pharma Role in cell adhesion 0

(21) Additional Compounds for CDH2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for CDH2 Gene

Compound Action Cas Number
Cadherin Peptide, avian Role in cell adhesion 127650-08-2
genes like me logo Genes that share compounds with CDH2: view

Transcripts for CDH2 Gene

mRNA/cDNA for CDH2 Gene

2 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CDH2

Alternative Splicing Database (ASD) splice patterns (SP) for CDH2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20
SP1: - - - - -
SP2: - -
SP3: -
SP4:
SP5: - - - -
SP6: - - - - -
SP7: - - -

Relevant External Links for CDH2 Gene

GeneLoc Exon Structure for
CDH2

Expression for CDH2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CDH2 Gene

mRNA differential expression in normal tissues according to GTEx for CDH2 Gene

This gene is overexpressed in Heart - Left Ventricle (x11.4), Heart - Atrial Appendage (x5.3), and Adrenal Gland (x4.4).

Protein differential expression in normal tissues from HIPED for CDH2 Gene

This gene is overexpressed in Amniocyte (33.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CDH2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CDH2

SOURCE GeneReport for Unigene cluster for CDH2 Gene:

Hs.464829

Evidence on tissue expression from TISSUES for CDH2 Gene

  • Nervous system(4.9)
  • Liver(4.6)
  • Heart(3.6)
  • Muscle(3.5)
  • Kidney(3)
  • Eye(2.9)
  • Intestine(2.8)
  • Skin(2.7)
  • Blood(2.7)
  • Adrenal gland(2.7)
  • Lung(2.7)
  • Pancreas(2.5)
  • Stomach(2.4)
  • Lymph node(2.4)
  • Spleen(2.4)
  • Thyroid gland(2.3)
  • Bone(2.2)
  • Bone marrow(2.1)
genes like me logo Genes that share expression patterns with CDH2: view

Primer products for research

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CDH2 Gene

Orthologs for CDH2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CDH2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CDH2 29 30
  • 99.63 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia NCAD 30
  • 98 (a)
OneToOne
CDH2 29
  • 93.05 (n)
Oppossum
(Monodelphis domestica)
Mammalia CDH2 30
  • 95 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia CDH2 29 30
  • 91.39 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CDH2 30
  • 90 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Cdh2 29 16 30
  • 88.34 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cdh2 29
  • 87.2 (n)
Chicken
(Gallus gallus)
Aves CDH2 29 30
  • 79.65 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CDH2 30
  • 86 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cdh2 29
  • 74.12 (n)
Str.2251 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.1873 29
Zebrafish
(Danio rerio)
Actinopterygii cdh2 29 30
  • 67.89 (n)
OneToOne
Species where no ortholog for CDH2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for CDH2 Gene

ENSEMBL:
Gene Tree for CDH2 (if available)
TreeFam:
Gene Tree for CDH2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CDH2: view image
Alliance of Genome Resources:
Additional Orthologs for CDH2

Paralogs for CDH2 Gene

(27) SIMAP similar genes for CDH2 Gene using alignment to 5 proteins:

  • CADH2_HUMAN
  • A8MWK3_HUMAN
  • C9J126_HUMAN
  • C9J8J8_HUMAN
  • C9JMH2_HUMAN
genes like me logo Genes that share paralogs with CDH2: view

Variants for CDH2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CDH2 Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
1047732 Uncertain Significance: not provided 28,011,910(-) C/T
NM_001792.5(CDH2):c.482G>A (p.Trp161Ter)
NONSENSE
783130 Benign: not provided 27,985,118(-) A/.
NM_001792.5(CDH2):c.2091= (p.Arg697=)
NO_SEQUENCE_ALTERATION
929497 Pathogenic: Arrhythmogenic right ventricular dysplasia, familial, 14 28,009,733(-) T/G
NM_001792.5(CDH2):c.686A>C (p.Gln229Pro)
MISSENSE
929498 Pathogenic: Arrhythmogenic right ventricular dysplasia, familial, 14 27,992,780(-) C/T
NM_001792.5(CDH2):c.1219G>A (p.Asp407Asn)
MISSENSE
929854 Pathogenic: Agenesis of corpus callosum, cardiac, ocular, and genital syndrome 28,009,716(-) C/T
NM_001792.5(CDH2):c.702+1G>A
SPLICE_DONOR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CDH2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CDH2 Gene

Variant ID Type Subtype PubMed ID
esv2760473 CNV gain 21179565
esv2761996 CNV loss 21179565
esv3573931 CNV gain 25503493
esv3642052 CNV loss 21293372
nsv1059472 CNV gain 25217958
nsv1071839 CNV deletion 25765185
nsv833605 CNV gain 17160897
nsv952695 CNV deletion 24416366
nsv9622 CNV loss 18304495

Variation tolerance for CDH2 Gene

Residual Variation Intolerance Score: 5.28% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.88; 67.50% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CDH2 Gene

Human Gene Mutation Database (HGMD)
CDH2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CDH2
Leiden Open Variation Database (LOVD)
CDH2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CDH2 Gene

Disorders for CDH2 Gene

MalaCards: The human disease database

(50) MalaCards diseases for CDH2 Gene - From: OMI, CVR, ORP, COP, and GCD

Additional Disease Information for CDH2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CDH2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CDH2 Gene

Publications for CDH2 Gene

  1. N-cadherin gene maps to human chromosome 18 and is not linked to the E-cadherin gene. (PMID: 2384753) Walsh FS … Goodfellow PN (Journal of neurochemistry 1990) 2 3 4 22
  2. Human N-cadherin: nucleotide and deduced amino acid sequence. (PMID: 2216790) Reid RA … Hemperly JJ (Nucleic acids research 1990) 2 3 4
  3. Loss of DLG5 promotes breast cancer malignancy by inhibiting the Hippo signaling pathway. (PMID: 28169360) Liu J … Liu P (Scientific reports 2017) 3 4
  4. Identification of Cadherin 2 (CDH2) Mutations in Arrhythmogenic Right Ventricular Cardiomyopathy. (PMID: 28280076) Mayosi BM … Crotti L (Circulation. Cardiovascular genetics 2017) 3 72
  5. Combined analysis of three genome-wide association studies on vWF and FVIII plasma levels. (PMID: 21810271) Antoni G … Tregouet DA (BMC medical genetics 2011) 3 40

Products for CDH2 Gene

  • Addgene plasmids for CDH2

Sources for CDH2 Gene