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CDH2 cadherin 2 [ Homo sapiens (human) ]

Gene ID: 1000, updated on 4-Jan-2025

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
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Genomic context

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

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

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

General gene information

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding  
enables alpha-catenin binding PubMed 
enables beta-catenin binding  
enables beta-catenin binding PubMed 
enables beta-catenin binding PubMed 
enables cadherin binding  
enables calcium ion binding  
enables gamma-catenin binding PubMed 
enables identical protein binding  
enables protein binding PubMed 
enables protein kinase binding  
enables protein phosphatase binding  
Items 1 - 25 of 35
Process Evidence Code Pubs
involved_in adherens junction organization  
involved_in blood vessel morphogenesis  
involved_in brain morphogenesis  
involved_in calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules  
involved_in cell adhesion PubMed 
involved_in cell migration  
involved_in cell morphogenesis  
involved_in cell-cell adhesion PubMed 
involved_in cell-cell adhesion  
involved_in cell-cell adhesion mediated by cadherin  
involved_in cell-cell adhesion mediated by cadherin  
involved_in cell-cell junction assembly  
involved_in cell-cell junction assembly  
involved_in cerebral cortex development  
involved_in detection of muscle stretch PubMed 
involved_in glial cell differentiation  
involved_in heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules  
involved_in homeostasis of number of cells  
involved_in homophilic cell adhesion via plasma membrane adhesion molecules  
involved_in mesenchymal cell migration  
involved_in negative regulation of canonical Wnt signaling pathway  
involved_in neural crest cell development  
involved_in neuroepithelial cell differentiation  
involved_in neuroligin clustering involved in postsynaptic membrane assembly  
involved_in neuronal stem cell population maintenance  
involved_in positive regulation of MAPK cascade  
involved_in positive regulation of synaptic vesicle clustering  
involved_in protein localization to plasma membrane  
involved_in radial glial cell differentiation  
involved_in regulation of oligodendrocyte progenitor proliferation  
involved_in regulation of postsynaptic density protein 95 clustering  
involved_in striated muscle cell differentiation  
involved_in synapse assembly  
involved_in synaptic vesicle clustering  
involved_in type B pancreatic cell development  
Items 1 - 25 of 35
Items 1 - 20 of 32
Component Evidence Code Pubs
is_active_in adherens junction  
located_in adherens junction PubMed 
is_active_in apical part of cell  
located_in apical plasma membrane  
located_in apicolateral plasma membrane  
located_in basolateral plasma membrane  
part_of catenin complex  
part_of catenin complex PubMed 
located_in cell junction PubMed 
located_in cell surface  
located_in cell-cell junction PubMed 
located_in collagen-containing extracellular matrix PubMed 
colocalizes_with cortical actin cytoskeleton PubMed 
is_active_in cytoplasm  
located_in cytoplasm PubMed 
located_in desmosome  
located_in endoplasmic reticulum lumen  
located_in fascia adherens  
located_in focal adhesion PubMed 
is_active_in intercalated disc  
located_in intercalated disc  
is_active_in lamellipodium  
located_in lamellipodium PubMed 
is_active_in neuron projection  
located_in plasma membrane PubMed 
located_in plasma membrane  
located_in plasma membrane  
located_in plasma membrane raft  
is_active_in postsynaptic density  
is_active_in postsynaptic specialization membrane  
is_active_in presynaptic active zone membrane  
located_in sarcolemma  
Items 1 - 20 of 32

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
    A8MWK3, B0YIY6, P19022, Q14923, Q8N173
    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: 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_017025514.3XP_016881003.1  cadherin-2 isoform X1

    UniProtKB/TrEMBL
    C9JMH2
    Related
    ENSP00000414269.2, ENST00000413878.2
  2. XM_011525788.1XP_011524090.1  cadherin-2 isoform X2

    UniProtKB/TrEMBL
    C9J126, C9JMH2
    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
    28127759..28372130 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/TrEMBL
    C9JMH2
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