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    CDH2 cadherin 2 [ Homo sapiens (human) ]

    Gene ID: 1000, updated on 22-Sep-2022

    Summary

    Official Symbol
    CDH2provided by HGNC
    Official Full Name
    cadherin 2provided by HGNC
    Primary source
    HGNC:HGNC:1759
    See related
    Ensembl:ENSG00000170558 MIM:114020; AllianceGenome:HGNC:1759
    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; ACOGS; ADHD8; CD325; ARVD14; 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CDH2 in Genome Data Viewer
    Location:
    18q12.1
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (27932879..28177130, complement)
    110 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (28145854..28372130, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (25530930..25757094, 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Agenesis of corpus callosum, cardiac, ocular, and genital syndrome
    MedGen: C5394523 OMIM: 618929 GeneReviews: Not available
    Compare labs
    Arrhythmogenic right ventricular dysplasia, familial, 14
    MedGen: C5394505 OMIM: 618920 GeneReviews: Not available
    Compare labs
    Attention deficit-hyperactivity disorder 8
    MedGen: CN315801 OMIM: 619957 GeneReviews: Not available
    not available

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables alpha-catenin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables beta-catenin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables beta-catenin binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables cadherin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables calcium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables calcium ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables gamma-catenin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein phosphatase binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in blood vessel morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in brain development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in brain morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell adhesion TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cell-cell adhesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cell-cell adhesion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cell-cell adhesion mediated by cadherin ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cell-cell adhesion via plasma-membrane adhesion molecules IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cell-cell junction assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cerebral cortex development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in detection of muscle stretch TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in glial cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in homeostasis of number of cells IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in homophilic cell adhesion via plasma membrane adhesion molecules IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in mesenchymal cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of canonical Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neural crest cell development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in neuroepithelial cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuroligin clustering involved in postsynaptic membrane assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuronal stem cell population maintenance ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of MAPK cascade IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of synaptic vesicle clustering IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein localization to plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in radial glial cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of axonogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of oligodendrocyte progenitor proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of postsynaptic density protein 95 clustering IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of synaptic transmission, glutamatergic IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in striated muscle cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in synapse assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in type B pancreatic cell development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in adherens junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in apical part of cell IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in apicolateral plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in basolateral plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    part_of catenin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of catenin complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell surface ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cell-cell junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in collagen-containing extracellular matrix HDA PubMed 
    colocalizes_with cortical actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in desmosome ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     
    located_in fascia adherens IEA
    Inferred from Electronic Annotation
    more info
     
    located_in focal adhesion HDA PubMed 
    is_active_in intercalated disc IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in intercalated disc ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in lamellipodium IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in lamellipodium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in plasma membrane raft IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in postsynaptic density IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    is_active_in postsynaptic specialization membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    is_active_in presynaptic active zone membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in sarcolemma IEA
    Inferred from Electronic Annotation
    more info
     

    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)

    NEW Try the new Transcript table

    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_011959.2 RefSeqGene

      Range
      5000..231164
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001308176.2NP_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
      Consensus CDS
      CCDS77172.1
      UniProtKB/Swiss-Prot
      P19022
      Related
      ENSP00000382312.3, ENST00000399380.7
      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_001792.5NP_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)
      AC006249, AC015933, AC110015
      Consensus CDS
      CCDS11891.1
      UniProtKB/Swiss-Prot
      P19022, Q8N173
      UniProtKB/TrEMBL
      A0A024RC42
      Related
      ENSP00000269141.3, ENST00000269141.8
      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 110 details...Open this link in a new tab

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      27932879..28177130 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017025514.3XP_016881003.1  cadherin-2 isoform X1

      Related
      ENSP00000414269.2, ENST00000413878.2
    2. XM_011525788.1XP_011524090.1  cadherin-2 isoform X2

      UniProtKB/TrEMBL
      C9J126
      Related
      ENSP00000502206.1, ENST00000676445.1
      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 T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      28145854..28372130 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)