Human Gene CDH2 (uc002kwg.2)
  Description: Homo sapiens cadherin 2, type 1, N-cadherin (neuronal) (CDH2), mRNA.
RefSeq Summary (NM_001792): 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].
Transcript (Including UTRs)
   Position: hg19 chr18:25,530,930-25,757,445 Size: 226,516 Total Exon Count: 16 Strand: -
Coding Region
   Position: hg19 chr18:25,532,117-25,756,986 Size: 224,870 Coding Exon Count: 16 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr18:25,530,930-25,757,445)mRNA (may differ from genome)Protein (906 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedReactomeTreefam
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CADH2_HUMAN
DESCRIPTION: RecName: Full=Cadherin-2; AltName: Full=CDw325; AltName: Full=Neural cadherin; Short=N-cadherin; AltName: CD_antigen=CD325; Flags: Precursor;
FUNCTION: Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. CDH2 may be involved in neuronal recognition mechanism. In hippocampal neurons, may regulate dendritic spine density (By similarity).
SUBUNIT: Interacts with CDCP1. Identified in a complex containing FGFR4, NCAM1, CDH2, PLCG1, FRS2, SRC, SHC1, GAP43 and CTTN. Interacts with PCDH8; this complex may also include TAOK2. The interaction with PCDH8 may lead to internalization through TAOK2/p38 MAPK pathway (By similarity).
SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein.
SIMILARITY: Contains 5 cadherin domains.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): CDH2
CDC HuGE Published Literature: CDH2
Positive Disease Associations: Cholesterol , Cleft Lip|Cleft Palate|Tooth Abnormalities , Echocardiography , Eosinophils , Erythrocyte Count , Heart Failure , Hip , Myocardial Infarction , Nonalcoholic Fatty Liver Disease , von Willebrand Factor
Related Studies:
  1. Cholesterol
    Sekar Kathiresan et al. BMC medical genetics 2007, A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study., BMC medical genetics. [PubMed 17903299]
    Using a 100K genome-wide scan, we have generated a set of putative associations for common sequence variants and lipid phenotypes. Validation of selected hypotheses in additional samples did not identify any new loci underlying variability in blood lipids. Lack of replication may be due to inadequate statistical power to detect modest quantitative trait locus effects (i.e., <1% of trait variance explained) or reduced genomic coverage of the 100K array. GWAS in FHS using a denser genome-wide genotyping platform and a better-powered replication strategy may identify novel loci underlying blood lipids.
  2. Cleft Lip|Cleft Palate|Tooth Abnormalities
    Alexandre R Vieira , et al. Genetics in medicine 2008 10(9):668-74, Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts., Genetics in medicine 2008 10(9):668-74. [PubMed 18978678]
    These findings support the hypothesis that some loci may contribute to both clefts and congenital dental anomalies.
  3. Echocardiography
    Ramachandran S Vasan et al. BMC medical genetics 2007, Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study., BMC medical genetics. [PubMed 17903301]
    In hypothesis-generating GWAS of echocardiography, ETT and BA vascular function in a moderate-sized community-based sample, we identified several SNPs that are candidates for replication attempts and we provide a web-based GWAS resource for the research community.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: CDH2
Diseases sorted by gene-association score: arrhythmogenic right ventricular cardiomyopathy (10), malignant pleural mesothelioma (9), tongue squamous cell carcinoma (9), hypotrichosis, congenital, with juvenile macular dystrophy (8), mesothelioma, somatic (8), hypoplastic left heart syndrome (7), spindle cell synovial sarcoma (6), arrhythmogenic right ventricular dysplasia 5 (5), cardiomyopathy, dilated, 1e (5), cervix small cell carcinoma (4), ovarian cancer, somatic (3), intrahepatic cholangiocarcinoma (2), pancreatic cancer (2), lung cancer (2), bladder cancer, somatic (2), prostate cancer (2), breast cancer (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 52.12 RPKM in Heart - Left Ventricle
Total median expression: 343.72 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -198.70459-0.433 Picture PostScript Text
3' UTR -288.921187-0.243 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002126 - Cadherin
IPR015919 - Cadherin-like
IPR020894 - Cadherin_CS
IPR000233 - Cadherin_cytoplasmic-dom
IPR014868 - Cadherin_pro_dom
IPR009124 - Desmocollin

Pfam Domains:
PF00028 - Cadherin domain
PF01049 - Cadherin cytoplasmic region
PF08758 - Cadherin prodomain like

SCOP Domains:
49313 - Cadherin-like

ModBase Predicted Comparative 3D Structure on P19022
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
  Protein Sequence   
  Alignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0008013 beta-catenin binding
GO:0019899 enzyme binding
GO:0019901 protein kinase binding
GO:0019903 protein phosphatase binding
GO:0042802 identical protein binding
GO:0045294 alpha-catenin binding
GO:0045295 gamma-catenin binding
GO:0046872 metal ion binding

Biological Process:
GO:0007155 cell adhesion
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules
GO:0007157 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules
GO:0009966 regulation of signal transduction
GO:0010001 glial cell differentiation
GO:0016339 calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules
GO:0016477 cell migration
GO:0021537 telencephalon development
GO:0021987 cerebral cortex development
GO:0034332 adherens junction organization
GO:0043410 positive regulation of MAPK cascade
GO:0043687 post-translational protein modification
GO:0044267 cellular protein metabolic process
GO:0044331 cell-cell adhesion mediated by cadherin
GO:0048514 blood vessel morphogenesis
GO:0048854 brain morphogenesis
GO:0048872 homeostasis of number of cells
GO:0051146 striated muscle cell differentiation
GO:0051149 positive regulation of muscle cell differentiation
GO:0060019 radial glial cell differentiation
GO:0060563 neuroepithelial cell differentiation
GO:0070445 regulation of oligodendrocyte progenitor proliferation
GO:0072659 protein localization to plasma membrane
GO:0090090 negative regulation of canonical Wnt signaling pathway
GO:0097118 neuroligin clustering involved in postsynaptic membrane assembly
GO:0097150 neuronal stem cell population maintenance
GO:1902897 regulation of postsynaptic density protein 95 clustering
GO:2000809 positive regulation of synaptic vesicle clustering

Cellular Component:
GO:0005737 cytoplasm
GO:0005788 endoplasmic reticulum lumen
GO:0005886 plasma membrane
GO:0005911 cell-cell junction
GO:0005912 adherens junction
GO:0005913 cell-cell adherens junction
GO:0005916 fascia adherens
GO:0005925 focal adhesion
GO:0009986 cell surface
GO:0014069 postsynaptic density
GO:0014704 intercalated disc
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016323 basolateral plasma membrane
GO:0016324 apical plasma membrane
GO:0016342 catenin complex
GO:0030027 lamellipodium
GO:0030054 cell junction
GO:0031012 extracellular matrix
GO:0042383 sarcolemma
GO:0044853 plasma membrane raft
GO:0045202 synapse
GO:0030864 cortical actin cytoskeleton


-  Descriptions from all associated GenBank mRNAs
  M34064 - Human N-cadherin mRNA, complete cds.
X57548 - Human mRNA for N-cadherin.
BC036470 - Homo sapiens cadherin 2, type 1, N-cadherin (neuronal), mRNA (cDNA clone MGC:41765 IMAGE:5264944), complete cds.
S42303 - N-cadherin [human, umbilical vein endothelial cells, mRNA, 4132 nt].
AK302831 - Homo sapiens cDNA FLJ53252 complete cds, highly similar to Cadherin-2 precursor.
X54315 - Human mRNA for N-cadherin.
EU832318 - Synthetic construct Homo sapiens clone HAIB:100067347; DKFZo008E0127 cadherin 2, type 1, N-cadherin (neuronal) protein (CDH2) gene, encodes complete protein.
EU832403 - Synthetic construct Homo sapiens clone HAIB:100067432; DKFZo004E0128 cadherin 2, type 1, N-cadherin (neuronal) protein (CDH2) gene, encodes complete protein.
AB384981 - Synthetic construct DNA, clone: pF1KB4700, Homo sapiens CDH2 gene for cadherin-2 precursor, complete cds, without stop codon, in Flexi system.
BX648579 - Homo sapiens mRNA; cDNA DKFZp686N1372 (from clone DKFZp686N1372).
BC021695 - Homo sapiens cadherin 2, type 1, N-cadherin (neuronal), mRNA (cDNA clone IMAGE:4050571), with apparent retained intron.
JD502211 - Sequence 483235 from Patent EP1572962.
JD241977 - Sequence 223001 from Patent EP1572962.
AK129728 - Homo sapiens cDNA FLJ26217 fis, clone ADG08167.
JD271292 - Sequence 252316 from Patent EP1572962.
JD458514 - Sequence 439538 from Patent EP1572962.
JD056228 - Sequence 37252 from Patent EP1572962.
JD458513 - Sequence 439537 from Patent EP1572962.
JD056229 - Sequence 37253 from Patent EP1572962.
JD417032 - Sequence 398056 from Patent EP1572962.
JD150417 - Sequence 131441 from Patent EP1572962.
JD406337 - Sequence 387361 from Patent EP1572962.
JD177032 - Sequence 158056 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04514 - Cell adhesion molecules (CAMs)
hsa05412 - Arrhythmogenic right ventricular cardiomyopathy (ARVC)

Reactome (by CSHL, EBI, and GO)

Protein P19022 (Reactome details) participates in the following event(s):

R-HSA-419001 Connection of adjacent cells through calcium-dependent trans-dimerization of cadherin
R-HSA-419002 Interaction of cadherin with Beta/gamma catenin, alpha catenin and p120 catenin
R-HSA-8952289 FAM20C phosphorylates FAM20C substrates
R-HSA-375140 CDO binds promyogenic cadherins
R-HSA-376121 Bnip2 interacts with CDO complex
R-HSA-376119 Interaction of Bnip-2 with Cdc42
R-HSA-376117 JLP interacts with CDO complex
R-HSA-449200 Interaction of ABL1 with CDO complex
R-HSA-448957 Interaction of p38 MAPK with JLP
R-HSA-418990 Adherens junctions interactions
R-HSA-421270 Cell-cell junction organization
R-HSA-381426 Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
R-HSA-8957275 Post-translational protein phosphorylation
R-HSA-375170 CDO in myogenesis
R-HSA-446728 Cell junction organization
R-HSA-392499 Metabolism of proteins
R-HSA-597592 Post-translational protein modification
R-HSA-525793 Myogenesis
R-HSA-1500931 Cell-Cell communication
R-HSA-1266738 Developmental Biology

-  Other Names for This Gene
  Alternate Gene Symbols: B0YIY6, CADH2_HUMAN, CDHN, NCAD, NM_001792, NP_001783, P19022, Q14923, Q8N173
UCSC ID: uc002kwg.2
RefSeq Accession: NM_001792
Protein: P19022 (aka CADH2_HUMAN or CAD2_HUMAN)
CCDS: CCDS11891.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001792.3
exon count: 16CDS single in 3' UTR: no RNA size: 4380
ORF size: 2721CDS single in intron: no Alignment % ID: 99.95
txCdsPredict score: 5482.00frame shift in genome: no % Coverage: 99.70
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.