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    CDH2 cadherin 2 [ Homo sapiens (human) ]

    Gene ID: 1000, updated on 18-Nov-2018

    Summary

    Official Symbol
    CDH2provided by HGNC
    Official Full Name
    cadherin 2provided by HGNC
    Primary source
    HGNC:HGNC:1759
    See related
    Ensembl:ENSG00000170558 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]
    Expression
    Biased expression in heart (RPKM 64.0), adrenal (RPKM 32.7) and 7 other tissues See more
    Orthologs

    Genomic context

    See CDH2 in Genome Data Viewer
    Location:
    18q12.1
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 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 LOC105372042 Neighboring gene VISTA enhancer hs1636 Neighboring gene VISTA enhancer hs1634 Neighboring gene uncharacterized LOC105372043 Neighboring gene ariadne RBR E3 ubiquitin protein ligase 2 pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    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

    HIV-1 interactions

    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

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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 IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    beta-catenin binding TAS
    Traceable Author Statement
    more info
    PubMed 
    cadherin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    calcium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    calcium ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytoskeletal protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    gamma-catenin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein kinase binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein phosphatase binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    adherens junction organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    adherens junction organization TAS
    Traceable Author Statement
    more info
     
    blood vessel morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    brain morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cell adhesion TAS
    Traceable Author Statement
    more info
    PubMed 
    cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    cell morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cell-cell adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cell-cell adhesion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cell-cell adhesion mediated by cadherin IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cell-cell adhesion mediated by cadherin ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cell-cell junction assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cellular protein metabolic process TAS
    Traceable Author Statement
    more info
     
    cerebral cortex development 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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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
     
    post-translational protein modification TAS
    Traceable Author Statement
    more info
     
    protein localization to plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    radial glial cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of axonogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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
     
    regulation of synaptic transmission, glutamatergic IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    striated muscle cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    synapse assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    apical part of cell IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    basolateral plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    catenin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    catenin complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell surface IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cell surface ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cell-cell adherens junction IBA
    Inferred from Biological aspect of Ancestor
    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 
    collagen-containing extracellular matrix HDA PubMed 
    colocalizes_with cortical actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     
    fascia adherens IEA
    Inferred from Electronic Annotation
    more info
     
    focal adhesion HDA PubMed 
    integral component of plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    integral component of postsynaptic specialization membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    integral component of presynaptic active zone membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    intercalated disc IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    intercalated disc ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    lamellipodium IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    lamellipodium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    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
     
    postsynaptic density IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    sarcolemma IEA
    Inferred from Electronic Annotation
    more info
     
    synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    cadherin-2
    Names
    N-cadherin 1
    cadherin 2, type 1, N-cadherin (neuronal)
    calcium-dependent adhesion protein, neuronal
    neural cadherin

    NCBI Reference Sequences (RefSeq)

    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
      ENSP00000382312.3, OTTHUMP00000067378, ENST00000399380.7, 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
      ENSP00000269141.3, OTTHUMP00000066304, ENST00000269141.7, 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 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p12 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_017025514.2XP_016881003.1  cadherin-2 isoform X1

    2. XM_011525788.1XP_011524090.1  cadherin-2 isoform X2

      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
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