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CDH2 cadherin 2 [ Homo sapiens (human) ]

Gene ID: 1000, updated on 27-Nov-2024

Summary

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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
mouse all
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Genomic context

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See CDH2 in Genome Data Viewer
Location:
18q12.1
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (27932879..28177130, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (28127759..28372130, complement)
RS_2024_09 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 LOC107985126 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:25090256-25090883 Neighboring gene NANOG hESC enhancer GRCh37_chr18:25136675-25137176 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr18:25141435-25141968 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr18:25149311-25150510 Neighboring gene Sharpr-MPRA regulatory region 9527 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:25241352-25242317 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr18:25292902-25293680 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr18:25322897-25324096 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:25329836-25330411 Neighboring gene NANOG hESC enhancer GRCh37_chr18:25358819-25359514 Neighboring gene uncharacterized LOC105372042 Neighboring gene VISTA enhancer hs1636 Neighboring gene VISTA enhancer hs1634 Neighboring gene Sharpr-MPRA regulatory region 6705 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:25734930-25735628 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:25820685-25821299 Neighboring gene OCT4 hESC enhancer GRCh37_chr18:25828556-25829185 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:25867001-25867592 Neighboring gene NANOG hESC enhancer GRCh37_chr18:25930929-25931430 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:26001477-26002172 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:26002173-26002868 Neighboring gene NANOG hESC enhancer GRCh37_chr18:26102096-26102597 Neighboring gene uncharacterized LOC105372043 Neighboring gene ariadne RBR E3 ubiquitin protein ligase 2 pseudogene 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. N-glycosylation alters cadherin-mediated intercellular binding kinetics. Langer MD, et al. J Cell Sci, 2012 May 15. PMID 22344255
  2. Soluble Neural-cadherin as a novel biomarker for malignant bone and soft tissue tumors. Niimi R, et al. BMC Cancer, 2013 Jun 26. PMID 23799912, Free PMC Article
  3. Hydrogels that mimic developmentally relevant matrix and N-cadherin interactions enhance MSC chondrogenesis. Bian L, et al. Proc Natl Acad Sci U S A, 2013 Jun 18. PMID 23733927, Free PMC Article
  4. Prognostic significance of twist and N-cadherin expression in NSCLC. Hui L, et al. PLoS One, 2013. PMID 23626784, Free PMC Article
  5. N-cadherin expression is associated with acquisition of EMT phenotype and with enhanced invasion in erlotinib-resistant lung cancer cell lines. Zhang X, et al. PLoS One, 2013. PMID 23520479, Free PMC Article

See all (409) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The gene expression of CALD1, CDH2, and POSTN in fibroblast are related to idiopathic pulmonary fibrosis.
    Title: The gene expression of CALD1, CDH2, and POSTN in fibroblast are related to idiopathic pulmonary fibrosis.
  2. N-cadherin dynamically regulates pediatric glioma cell migration in complex environments.
    Title: N-cadherin dynamically regulates pediatric glioma cell migration in complex environments.
  3. Essential role of obscurin kinase-1 in cardiomyocyte coupling via N-cadherin phosphorylation.
    Title: Essential role of obscurin kinase-1 in cardiomyocyte coupling via N-cadherin phosphorylation.
  4. N-cadherin Alleviates Apoptosis and Senescence of Nucleus Pulposus Cells via Suppressing ROS-dependent ERS in the Hyper-osmolarity Microenvironment.
    Title: N-cadherin Alleviates Apoptosis and Senescence of Nucleus Pulposus Cells via Suppressing ROS-dependent ERS in the Hyper-osmolarity Microenvironment.
  5. EGF-Enhanced GnRH-II Regulation in Decidual Stromal Cell Motility through Twist and N-Cadherin Signaling.
    Title: EGF-Enhanced GnRH-II Regulation in Decidual Stromal Cell Motility through Twist and N-Cadherin Signaling.
  6. RNA-Sequencing Analysis Indicates That N-Cadherin Promotes Prostate Cancer Progression by the Epigenetic Modification of Key Genes.
    Title: RNA-Sequencing Analysis Indicates That N-Cadherin Promotes Prostate Cancer Progression by the Epigenetic Modification of Key Genes.
  7. PAK5 potentiates slug transactivation of N-cadherin to facilitate metastasis of renal cell carcinoma.
    Title: PAK5 potentiates slug transactivation of N-cadherin to facilitate metastasis of renal cell carcinoma.
  8. N-cadherin cleavage: A critical function that induces diabetic retinopathy fibrosis via regulation of beta-catenin translocation.
    Title: N-cadherin cleavage: A critical function that induces diabetic retinopathy fibrosis via regulation of β-catenin translocation.
  9. Exosomal miR-543 derived from umbilical cord mesenchymal stem cells ameliorates endometrial fibrosis in intrauterine adhesion via downregulating N-cadherin.
    Title: Exosomal miR-543 derived from umbilical cord mesenchymal stem cells ameliorates endometrial fibrosis in intrauterine adhesion via downregulating N-cadherin.
  10. N-cadherin protects oral cancer cells from NK cell killing in the circulation by inducing NK cell functional exhaustion via the KLRG1 receptor.
    Title: N-cadherin protects oral cancer cells from NK cell killing in the circulation by inducing NK cell functional exhaustion via the KLRG1 receptor.
Submit: New GeneRIF Correction See all GeneRIFs (290)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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: C5677018 OMIM: 619957 GeneReviews: Not available
Compare labs

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

Variation

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See Variation Viewer (GRCh37.p13)

HIV-1 interactions

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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

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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 IBA
Inferred from Biological aspect of Ancestor
more info
  
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
  
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 adherens junction organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in blood vessel morphogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in brain morphogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cell adhesion TAS
Traceable Author Statement
more info
 PubMed 
involved_in cell migration IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cell morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
  
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 IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cell-cell adhesion mediated by cadherin ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in cell-cell junction assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
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 IEA
Inferred from Electronic Annotation
more info
  
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 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 striated muscle cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in synapse assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in synaptic vesicle clustering ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in type B pancreatic cell development ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
is_active_in adherens junction IBA
Inferred from Biological aspect of Ancestor
more info
  
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
  
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
  
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
  
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
  
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
  
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
  
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
  
is_active_in postsynaptic specialization membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in presynaptic active zone membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in sarcolemma IEA
Inferred from Electronic Annotation
more info
  

General protein information

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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)

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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_001308176.2 → NP_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:242 → 347
    Cadherin_repeat; Cadherin tandem repeat domain
    pfam01049
    Location:728 → 871
    Cadherin_C; Cadherin cytoplasmic region
    cl07391
    Location:18 → 90
    Cadherin_pro; Cadherin prodomain like
    cl09101
    Location:132 → 232
    E_set; Early set domain associated with the catalytic domain of sugar utilizing enzymes at either the N or C terminus

  2. NM_001792.5 → NP_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
    A8MWK3, B0YIY6, P19022, Q14923, Q8N173
    Related
    ENSP00000269141.3, ENST00000269141.8
    Conserved Domains (4) summary
    cd11304
    Location:273 → 378
    Cadherin_repeat; Cadherin tandem repeat domain
    pfam01049
    Location:759 → 902
    Cadherin_C; Cadherin cytoplasmic region
    pfam08758
    Location:31 → 121
    Cadherin_pro; Cadherin prodomain like
    cl09101
    Location:163 → 263
    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: GCF_000001405.40-RS_2024_08

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_017025514.3 → XP_016881003.1  cadherin-2 isoform X1

    UniProtKB/TrEMBL
    C9JMH2
    Related
    ENSP00000414269.2, ENST00000413878.2

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

    UniProtKB/TrEMBL
    C9J126, C9JMH2
    Related
    ENSP00000502206.1, ENST00000676445.1
    Conserved Domains (4) summary
    cd11304
    Location:188 → 293
    Cadherin_repeat; Cadherin tandem repeat domain
    pfam01049
    Location:674 → 817
    Cadherin_C; Cadherin cytoplasmic region
    cl07391
    Location:2 → 36
    Cadherin_pro; Cadherin prodomain like
    cl09101
    Location:78 → 178
    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
    28127759..28372130 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054318138.1 → XP_054174113.1  cadherin-2 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P19022.4 GenPept UniProtKB/Swiss-Prot:P19022

Gene LinkOut

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