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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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