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    CDH2 cadherin 2 [ Homo sapiens (human) ]

    Gene ID: 1000, updated on 22-Sep-2016
    Official Symbol
    CDH2provided by HGNC
    Official Full Name
    cadherin 2provided by HGNC
    Primary source
    HGNC:HGNC:1759
    See related
    Ensembl:ENSG00000170558 HPRD:00226; MIM:114020; Vega:OTTHUMG00000059940
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CDHN; NCAD; CD325; CDw325
    Summary
    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]
    Orthologs
    Location:
    18q11.2
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 18 NC_000018.10 (27932878..28177446, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (25530930..25757445, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985126 Neighboring gene uncharacterized LOC105372042 Neighboring gene uncharacterized LOC105372043 Neighboring gene ariadne RBR E3 ubiquitin protein ligase 2 pseudogene 1

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Combined analysis of three genome-wide association studies on vWF and FVIII plasma levels.
    NHGRI GWA Catalog
    Gene network analysis in a pediatric cohort identifies novel lung function genes.
    NHGRI GWA Catalog
    Genome-wide association study of periodontal health measured by probing depth in adults ages 18-49 years.
    NHGRI GWA Catalog
    Genome-wide association study of temperament in bipolar disorder reveals significant associations with three novel Loci.
    NHGRI GWA Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat FITC-labeled Tat 47-59 peptide downregulates gene expression of cadherin 2, type 1, N-cadherin (neuronal) (CDH2) in U-937 macrophages PubMed

    Go to the HIV-1, Human Interaction Database

    • Adherens junctions interactions, organism-specific biosystem (from REACTOME)
      Adherens junctions interactions, organism-specific biosystemThe adherens junctions (AJ) are multiprotein complexes that promote homotypic cell adhesion in nearly all types of tissue by linking membrane and cytoskeletal components at discrete contact regions (...
    • Arrhythmogenic right ventricular cardiomyopathy, organism-specific biosystem (from WikiPathways)
      Arrhythmogenic right ventricular cardiomyopathy, organism-specific biosystemAdapted from KEGG: http://www.genome.jp/kegg/pathway/hsa/hsa05412.html
    • Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystem (from KEGG)
      Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
    • Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystem (from KEGG)
      Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
    • BDNF signaling pathway, organism-specific biosystem (from WikiPathways)
      BDNF signaling pathway, organism-specific biosystemBrain-derived neurotrophic factor (BDNF) is a neurotrophin essential for growth, differentiation, plasticity, and survival of neurons. BDNF is also required for processes such as energy metabolism, b...
    • CDO in myogenesis, organism-specific biosystem (from REACTOME)
      CDO in myogenesis, organism-specific biosystemCDO/Cdon (cell-adhesion-molecule-related/downregulated by oncogenes) is a type I transmembrane multifunctional co-receptor consisting of five immunoglobulin and three fibronectin type III (FNIII) rep...
    • Cell adhesion molecules (CAMs), organism-specific biosystem (from KEGG)
      Cell adhesion molecules (CAMs), organism-specific biosystemCell adhesion molecules are (glyco)proteins expressed on the cell surface and play a critical role in a wide array of biologic processes that include hemostasis, the immune response, inflammation, em...
    • Cell adhesion molecules (CAMs), conserved biosystem (from KEGG)
      Cell adhesion molecules (CAMs), conserved biosystemCell adhesion molecules are (glyco)proteins expressed on the cell surface and play a critical role in a wide array of biologic processes that include hemostasis, the immune response, inflammation, em...
    • Cell junction organization, organism-specific biosystem (from REACTOME)
      Cell junction organization, organism-specific biosystem
      Cell junction organization
    • Cell-Cell communication, organism-specific biosystem (from REACTOME)
      Cell-Cell communication, organism-specific biosystemCell-to-Cell communication is crucial for multicellular organisms because it allows organisms to coordinate the activity of their cells. Some cell-to-cell communication requires direct cell-cell cont...
    • Cell-cell junction organization, organism-specific biosystem (from REACTOME)
      Cell-cell junction organization, organism-specific biosystemEpithelial cell-cell contacts consist of three major adhesion systems: adherens junctions (AJs), tight junctions (TJs), and desmosomes. These adhesion systems differ in their function and compositio...
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • FGF signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
      FGF signaling pathway, organism-specific biosystem
      FGF signaling pathway
    • Myogenesis, organism-specific biosystem (from REACTOME)
      Myogenesis, organism-specific biosystemMyogenesis, the formation of muscle tissue, is a complex process involving steps of cell proliferation mediated by growth factor signaling, cell differentiation, reorganization of cells to form myotu...
    • N-cadherin signaling events, organism-specific biosystem (from Pathway Interaction Database)
      N-cadherin signaling events, organism-specific biosystem
      N-cadherin signaling events
    • Neural Crest Differentiation, organism-specific biosystem (from WikiPathways)
      Neural Crest Differentiation, organism-specific biosystemGene regulatory network model of cranial neural crest cell (CNCC) development, adaped from PMID: 19575671. Most interactions in the model are proposed to regulate transcription of core factors involv...
    • Signaling events mediated by PTP1B, organism-specific biosystem (from Pathway Interaction Database)
      Signaling events mediated by PTP1B, organism-specific biosystem
      Signaling events mediated by PTP1B
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    alpha-catenin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    beta-catenin binding TAS
    Traceable Author Statement
    more info
    PubMed 
    calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    gamma-catenin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein phosphatase binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    adherens junction organization TAS
    Traceable Author Statement
    more info
     
    blood vessel morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    brain morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules IEA
    Inferred from Electronic Annotation
    more info
     
    cell adhesion TAS
    Traceable Author Statement
    more info
    PubMed 
    cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    cell-cell adhesion mediated by cadherin ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cerebral cortex development IEA
    Inferred from Electronic Annotation
    more info
     
    establishment of protein localization to plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    glial cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules IEA
    Inferred from Electronic Annotation
    more info
     
    homeostasis of number of cells IEA
    Inferred from Electronic Annotation
    more info
     
    homophilic cell adhesion via plasma membrane adhesion molecules IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of canonical Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    neuroepithelial cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    neuroligin clustering involved in postsynaptic membrane assembly IEA
    Inferred from Electronic Annotation
    more info
     
    neuronal stem cell population maintenance ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of MAPK cascade IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of muscle cell differentiation TAS
    Traceable Author Statement
    more info
     
    positive regulation of synaptic vesicle clustering IEA
    Inferred from Electronic Annotation
    more info
     
    radial glial cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of oligodendrocyte progenitor proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of postsynaptic density protein 95 clustering IEA
    Inferred from Electronic Annotation
    more info
     
    striated muscle cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    basolateral plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    catenin complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell-cell adherens junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell-cell junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with cortical actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    fascia adherens IEA
    Inferred from Electronic Annotation
    more info
     
    focal adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    intercalated disc ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    lamellipodium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    plasma membrane raft IEA
    Inferred from Electronic Annotation
    more info
     
    synapse IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    cadherin-2
    Names
    N-cadherin 1
    cadherin 2, type 1, N-cadherin (neuronal)
    calcium-dependent adhesion protein, neuronal
    neural cadherin

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011959.1 RefSeqGene

      Range
      5036..231519
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001308176.1NP_001295105.1  cadherin-2 isoform 2

      See identical proteins and their annotated locations for NP_001295105.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents use of an alternate promoter, and therefore differs in the 5' UTR and 5' coding region, compared to variant 1. These differences cause translation initiation at an alternate start codon, resulting in an isoform (2) that lacks a predicted signal peptide and has a distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC015933, AC110015, AK302831, BC036470, CB105441, DC403359, M34064
      Consensus CDS
      CCDS77172.1
      UniProtKB/Swiss-Prot
      P19022
      Related
      ENSP00000382312, OTTHUMP00000067378, ENST00000399380, OTTHUMT00000139363
      Conserved Domains (4) summary
      cd11304
      Location:242347
      Cadherin_repeat; Cadherin tandem repeat domain
      pfam01049
      Location:728871
      Cadherin_C; Cadherin cytoplasmic region
      cl07391
      Location:1890
      Cadherin_pro; Cadherin prodomain like
      cl09101
      Location:132232
      E_set; Early set domain associated with the catalytic domain of sugar utilizing enzymes at either the N or C terminus
    2. NM_001792.4NP_001783.2  cadherin-2 isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_001783.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AI752179, BC036470, CB105441, CN263272, DA225616, M34064, S42303
      Consensus CDS
      CCDS11891.1
      UniProtKB/Swiss-Prot
      P19022
      UniProtKB/TrEMBL
      A0A024RC42
      Related
      ENSP00000269141, OTTHUMP00000066304, ENST00000269141, OTTHUMT00000133246
      Conserved Domains (4) summary
      cd11304
      Location:273378
      Cadherin_repeat; Cadherin tandem repeat domain
      pfam01049
      Location:759902
      Cadherin_C; Cadherin cytoplasmic region
      pfam08758
      Location:31121
      Cadherin_pro; Cadherin prodomain like
      cl09101
      Location:163263
      E_set; Early set domain associated with the catalytic domain of sugar utilizing enzymes at either the N or C terminus

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p7 Primary Assembly

      Range
      27932878..28177446 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017025514.1XP_016881003.1  

    2. XM_011525788.1XP_011524090.1  

      Conserved Domains (4) summary
      cd11304
      Location:188293
      Cadherin_repeat; Cadherin tandem repeat domain
      pfam01049
      Location:674817
      Cadherin_C; Cadherin cytoplasmic region
      cl07391
      Location:236
      Cadherin_pro; Cadherin prodomain like
      cl09101
      Location:78178
      E_set; Early set domain associated with the catalytic domain of sugar utilizing enzymes at either the N or C terminus

    Alternate CHM1_1.1

    Genomic

    1. NC_018929.2 Alternate CHM1_1.1

      Range
      25458395..25684846 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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