Atlas of Genetics and Cytogenetics in Oncology and Haematology

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CDH2 (cadherin 2)

Identity

Alias_namesNCAD
cadherin 2
Alias_symbol (synonym)CDHN
CD325
Other aliasCDw325
HGNC (Hugo) CDH2
LocusID (NCBI) 1000
Atlas_Id 40023
Location 18q12.1  [Link to chromosome band 18q12]
Location_base_pair Starts at 27950963 and ends at 28177446 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
CDH2 (18q12.1) / KIAA1328 (18q12.2)CDH2 (18q12.1) / LAMA3 (18q11.2)MALAT1 (11q13.1) / CDH2 (18q12.1)
PEA15 (1q23.2) / CDH2 (18q12.1)TGFB2 (1q41) / CDH2 (18q12.1)TNRC6B (22q13.1) / CDH2 (18q12.1)
CDH2 18q12.1 / KIAA1328 18q12.2CDH2 18q12.1 / LAMA3 18q11.2

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(18;18)(q11;q12) CDH2/LAMA3
CDH2/KIAA1328 (18q12)

External links

Nomenclature
HGNC (Hugo)CDH2   1759
Cards
Entrez_Gene (NCBI)CDH2  1000  cadherin 2
AliasesCD325; CDHN; CDw325; NCAD
GeneCards (Weizmann)CDH2
Ensembl hg19 (Hinxton)ENSG00000170558 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000170558 [Gene_View]  ENSG00000170558 [Sequence]  chr18:27950963-28177446 [Contig_View]  CDH2 [Vega]
ICGC DataPortalENSG00000170558
TCGA cBioPortalCDH2
AceView (NCBI)CDH2
Genatlas (Paris)CDH2
WikiGenes1000
SOURCE (Princeton)CDH2
Genetics Home Reference (NIH)CDH2
Genomic and cartography
GoldenPath hg38 (UCSC)CDH2  -     chr18:27950963-28177446 -  18q12.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CDH2  -     18q12.1   [Description]    (hg19-Feb_2009)
GoldenPathCDH2 - 18q12.1 [CytoView hg19]  CDH2 - 18q12.1 [CytoView hg38]
ImmunoBaseENSG00000170558
Mapping of homologs : NCBICDH2 [Mapview hg19]  CDH2 [Mapview hg38]
OMIM114020   
Gene and transcription
Genbank (Entrez)AA661623 AI675151 AI752179 AI752180 AK302831
RefSeq transcript (Entrez)NM_001308176 NM_001792
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CDH2
Cluster EST : UnigeneHs.606106 [ NCBI ]
CGAP (NCI)Hs.606106
Alternative Splicing GalleryENSG00000170558
Gene ExpressionCDH2 [ NCBI-GEO ]   CDH2 [ EBI - ARRAY_EXPRESS ]   CDH2 [ SEEK ]   CDH2 [ MEM ]
Gene Expression Viewer (FireBrowse)CDH2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1000
GTEX Portal (Tissue expression)CDH2
Human Protein AtlasENSG00000170558-CDH2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP19022   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP19022  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP19022
Splice isoforms : SwissVarP19022
PhosPhoSitePlusP19022
Domaine pattern : Prosite (Expaxy)CADHERIN_1 (PS00232)    CADHERIN_2 (PS50268)   
Domains : Interpro (EBI)Cadherin    Cadherin-like    Cadherin_CS    Cadherin_cytoplasmic-dom    Cadherin_pro_dom    Catenin_binding_dom_sf    CDH2   
Domain families : Pfam (Sanger)Cadherin (PF00028)    Cadherin_C (PF01049)    Cadherin_pro (PF08758)   
Domain families : Pfam (NCBI)pfam00028    pfam01049    pfam08758   
Domain families : Smart (EMBL)CA (SM00112)  Cadherin_pro (SM01055)  
Conserved Domain (NCBI)CDH2
DMDM Disease mutations1000
Blocks (Seattle)CDH2
SuperfamilyP19022
Human Protein Atlas [tissue]ENSG00000170558-CDH2 [tissue]
Peptide AtlasP19022
HPRD00226
IPIIPI00290085   IPI00658202   IPI00853291   IPI00917873   IPI00916622   
Protein Interaction databases
DIP (DOE-UCLA)P19022
IntAct (EBI)P19022
FunCoupENSG00000170558
BioGRIDCDH2
STRING (EMBL)CDH2
ZODIACCDH2
Ontologies - Pathways
QuickGOP19022
Ontology : AmiGOcell morphogenesis  calcium ion binding  calcium ion binding  protein binding  cytoplasm  cytoplasm  endoplasmic reticulum lumen  plasma membrane  plasma membrane  plasma membrane  integral component of plasma membrane  cell-cell junction  cell-cell adherens junction  cell-cell adherens junction  fascia adherens  focal adhesion  cell-cell junction assembly  cell adhesion  homophilic cell adhesion via plasma membrane adhesion molecules  heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules  synapse assembly  beta-catenin binding  beta-catenin binding  cytoskeletal protein binding  cell surface  cell surface  glial cell differentiation  postsynaptic density  intercalated disc  intercalated disc  basolateral plasma membrane  apical plasma membrane  calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules  catenin complex  catenin complex  cell migration  protein kinase binding  protein phosphatase binding  cerebral cortex development  lamellipodium  lamellipodium  cell junction  cortical actin cytoskeleton  adherens junction organization  adherens junction organization  sarcolemma  protein homodimerization activity  neuron projection  positive regulation of MAPK cascade  post-translational protein modification  cellular protein metabolic process  cell-cell adhesion mediated by cadherin  cell-cell adhesion mediated by cadherin  plasma membrane raft  apical part of cell  synapse  alpha-catenin binding  gamma-catenin binding  cadherin binding  blood vessel morphogenesis  brain morphogenesis  homeostasis of number of cells  regulation of axonogenesis  striated muscle cell differentiation  positive regulation of muscle cell differentiation  regulation of synaptic transmission, glutamatergic  radial glial cell differentiation  neuroepithelial cell differentiation  collagen-containing extracellular matrix  regulation of oligodendrocyte progenitor proliferation  protein localization to plasma membrane  negative regulation of canonical Wnt signaling pathway  neuroligin clustering involved in postsynaptic membrane assembly  neuronal stem cell population maintenance  cell-cell adhesion  cell-cell adhesion  integral component of presynaptic active zone membrane  integral component of postsynaptic specialization membrane  regulation of postsynaptic density protein 95 clustering  positive regulation of synaptic vesicle clustering  
Ontology : EGO-EBIcell morphogenesis  calcium ion binding  calcium ion binding  protein binding  cytoplasm  cytoplasm  endoplasmic reticulum lumen  plasma membrane  plasma membrane  plasma membrane  integral component of plasma membrane  cell-cell junction  cell-cell adherens junction  cell-cell adherens junction  fascia adherens  focal adhesion  cell-cell junction assembly  cell adhesion  homophilic cell adhesion via plasma membrane adhesion molecules  heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules  synapse assembly  beta-catenin binding  beta-catenin binding  cytoskeletal protein binding  cell surface  cell surface  glial cell differentiation  postsynaptic density  intercalated disc  intercalated disc  basolateral plasma membrane  apical plasma membrane  calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules  catenin complex  catenin complex  cell migration  protein kinase binding  protein phosphatase binding  cerebral cortex development  lamellipodium  lamellipodium  cell junction  cortical actin cytoskeleton  adherens junction organization  adherens junction organization  sarcolemma  protein homodimerization activity  neuron projection  positive regulation of MAPK cascade  post-translational protein modification  cellular protein metabolic process  cell-cell adhesion mediated by cadherin  cell-cell adhesion mediated by cadherin  plasma membrane raft  apical part of cell  synapse  alpha-catenin binding  gamma-catenin binding  cadherin binding  blood vessel morphogenesis  brain morphogenesis  homeostasis of number of cells  regulation of axonogenesis  striated muscle cell differentiation  positive regulation of muscle cell differentiation  regulation of synaptic transmission, glutamatergic  radial glial cell differentiation  neuroepithelial cell differentiation  collagen-containing extracellular matrix  regulation of oligodendrocyte progenitor proliferation  protein localization to plasma membrane  negative regulation of canonical Wnt signaling pathway  neuroligin clustering involved in postsynaptic membrane assembly  neuronal stem cell population maintenance  cell-cell adhesion  cell-cell adhesion  integral component of presynaptic active zone membrane  integral component of postsynaptic specialization membrane  regulation of postsynaptic density protein 95 clustering  positive regulation of synaptic vesicle clustering  
Pathways : KEGGCell adhesion molecules (CAMs)    Arrhythmogenic right ventricular cardiomyopathy (ARVC)   
NDEx NetworkCDH2
Atlas of Cancer Signalling NetworkCDH2
Wikipedia pathwaysCDH2
Orthology - Evolution
OrthoDB1000
GeneTree (enSembl)ENSG00000170558
Phylogenetic Trees/Animal Genes : TreeFamCDH2
HOGENOMP19022
Homologs : HomoloGeneCDH2
Homology/Alignments : Family Browser (UCSC)CDH2
Gene fusions - Rearrangements
Fusion : MitelmanCDH2/KIAA1328 [18q12.1/18q12.2]  
Fusion : MitelmanCDH2/LAMA3 [18q12.1/18q11.2]  [t(18;18)(q11;q12)]  
Fusion PortalCDH2 18q12.1 KIAA1328 18q12.2 BRCA
Fusion PortalCDH2 18q12.1 LAMA3 18q11.2 LUAD
Fusion : QuiverCDH2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCDH2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CDH2
dbVarCDH2
ClinVarCDH2
1000_GenomesCDH2 
Exome Variant ServerCDH2
ExAC (Exome Aggregation Consortium)ENSG00000170558
GNOMAD BrowserENSG00000170558
Varsome BrowserCDH2
Genetic variants : HAPMAP1000
Genomic Variants (DGV)CDH2 [DGVbeta]
DECIPHERCDH2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCDH2 
Mutations
ICGC Data PortalCDH2 
TCGA Data PortalCDH2 
Broad Tumor PortalCDH2
OASIS PortalCDH2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCDH2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCDH2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CDH2
DgiDB (Drug Gene Interaction Database)CDH2
DoCM (Curated mutations)CDH2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CDH2 (select a term)
intoGenCDH2
Cancer3DCDH2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM114020   
Orphanet
DisGeNETCDH2
MedgenCDH2
Genetic Testing Registry CDH2
NextProtP19022 [Medical]
TSGene1000
GENETestsCDH2
Target ValidationCDH2
Huge Navigator CDH2 [HugePedia]
snp3D : Map Gene to Disease1000
BioCentury BCIQCDH2
ClinGenCDH2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1000
Chemical/Pharm GKB GenePA26293
Clinical trialCDH2
Miscellaneous
canSAR (ICR)CDH2 (select the gene name)
DataMed IndexCDH2
Probes
Litterature
PubMed307 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCDH2
EVEXCDH2
GoPubMedCDH2
iHOPCDH2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Jul 8 11:14:15 CEST 2019
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