CDH2
Cadherin-2
Also known as: CADH2_HUMAN, CD325, CDHN, NCAD
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P19022
- Gene
- CDH2
- Ensembl
- ENSG00000170558
- Chromosome
- 18
- Canonical length
- 906 aa
- Protein class
- CD markers, Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins
- Subcellular location
- Plasma membrane,Cell Junctions
- Quaternary structure
- Homodimer
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
906 residues, UniProt reviewed canonical sequence.
>P19022|CDH2
1 MCRIAGALRT LLPLLAALLQ ASVEASGEIA LCKTGFPEDV YSAVLSKDVH EGQPLLNVKF
61 SNCNGKRKVQ YESSEPADFK VDEDGMVYAV RSFPLSSEHA KFLIYAQDKE TQEKWQVAVK
121 LSLKPTLTEE SVKESAEVEE IVFPRQFSKH SGHLQRQKRD WVIPPINLPE NSRGPFPQEL
181 VRIRSDRDKN LSLRYSVTGP GADQPPTGIF IINPISGQLS VTKPLDREQI ARFHLRAHAV
241 DINGNQVENP IDIVINVIDM NDNRPEFLHQ VWNGTVPEGS KPGTYVMTVT AIDADDPNAL
301 NGMLRYRIVS QAPSTPSPNM FTINNETGDI ITVAAGLDRE KVQQYTLIIQ ATDMEGNPTY
361 GLSNTATAVI TVTDVNDNPP EFTAMTFYGE VPENRVDIIV ANLTVTDKDQ PHTPAWNAVY
421 RISGGDPTGR FAIQTDPNSN DGLVTVVKPI DFETNRMFVL TVAAENQVPL AKGIQHPPQS
481 TATVSVTVID VNENPYFAPN PKIIRQEEGL HAGTMLTTFT AQDPDRYMQQ NIRYTKLSDP
541 ANWLKIDPVN GQITTIAVLD RESPNVKNNI YNATFLASDN GIPPMSGTGT LQIYLLDIND
601 NAPQVLPQEA ETCETPDPNS INITALDYDI DPNAGPFAFD LPLSPVTIKR NWTITRLNGD
661 FAQLNLKIKF LEAGIYEVPI IITDSGNPPK SNISILRVKV CQCDSNGDCT DVDRIVGAGL
721 GTGAIIAILL CIIILLILVL MFVVWMKRRD KERQAKQLLI DPEDDVRDNI LKYDEEGGGE
781 EDQDYDLSQL QQPDTVEPDA IKPVGIRRMD ERPIHAEPQY PVRSAAPHPG DIGDFINEGL
841 KAADNDPTAP PYDSLLVFDY EGSGSTAGSL SSLNSSSSGG EQDYDYLNDW GPRFKKLADM
901 YGGGDDLocalizationUniProt · AlphaFold · HPA
Whether an antibody against CDH2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.39
- Highest tissue expression
- 184 nTPM
Expression across tissuesHPA
Tissue
- heart muscle: 184 nTPM
- adrenal gland: 63 nTPM
- retina: 56 nTPM
- liver: 54 nTPM
- testis: 42 nTPM
- cerebral cortex: 33 nTPM
Single-cell type
- cardiomyocytes: 1,145 nCPM
- adrenal cortex cells: 850 nCPM
- sertoli cells: 734 nCPM
- cone photoreceptor cells: 714 nCPM
- pituitary stem cells: 548 nCPM
- rod photoreceptor cells: 511 nCPM
Immune cell
- basophil: 1.7 nTPM
- neutrophil: 1.3 nTPM
- MAIT T-cell: 0.3 nTPM
- NK-cell: 0.3 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
Brain region
- hypothalamus: 72 nTPM
- cerebral cortex: 65 nTPM
- thalamus: 64 nTPM
- basal ganglia: 63 nTPM
- midbrain: 60 nTPM
- hippocampal formation: 59 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about CDH2.
Disease | AllUniProt
Conditions CDH2 is implicated in, by any mechanism.
- Arrhythmogenic right ventricular dysplasia, familial, 14 (ARVD14) MIM:618920
- Agenesis of corpus callosum, cardiac, ocular, and genital syndrome (ACOGS) MIM:618929
- Attention deficit-hyperactivity disorder 8 (ADHD8) MIM:619957
Disease | GeneticClinVar
24 pathogenic / likely-pathogenic of 1,156 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Agenesis of corpus callosum, cardiac, ocular, and genital syndrome
- Corpus callosum, agenesis of
- Axon pathfinding, cardiac, ocular and genital defects
- Syndromic neurodevelopmental disorder
- Arrhythmogenic right ventricular dysplasia, familial, 14
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.29
- gnomAD pLI
- 0.99
- gnomAD missense Z
- 2.09
- DepMap mean gene effect
- -0.12
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- adherens junction organization
- blood vessel morphogenesis
- brain morphogenesis
- calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules
- cell adhesion
- cell migration
- cell morphogenesis
- cell-cell adhesion
- cell-cell adhesion mediated by cadherin
- cell-cell junction assembly
- cerebral cortex development
- detection of muscle stretch
- glial cell differentiation
- heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules
- homeostasis of number of cells
- homophilic cell adhesion via plasma membrane adhesion molecules
- mesenchymal cell migration
- negative regulation of canonical Wnt signaling pathway
- neural crest cell development
- neuroepithelial cell differentiation
- neuroligin clustering involved in postsynaptic membrane assembly
- neuronal stem cell population maintenance
- positive regulation of MAPK cascade
- positive regulation of synaptic vesicle clustering
- radial glial cell differentiation
- regulation of oligodendrocyte progenitor proliferation
- regulation of postsynaptic density protein 95 clustering
- striated muscle cell differentiation
- synapse assembly
- synaptic vesicle clustering
- type B pancreatic cell development
Molecular functions
- alpha-catenin binding
- beta-catenin binding
- cadherin binding
- calcium ion binding
- gamma-catenin binding
- identical protein binding
- protein kinase binding
- protein phosphatase binding
- RNA binding
Cellular components
- adherens junction
- apical part of cell
- apical plasma membrane
- apicolateral plasma membrane
- basolateral plasma membrane
- catenin complex
- cell junction
- cell surface
- cell-cell junction
- cytoplasm
- desmosome
- endoplasmic reticulum lumen
- extracellular matrix
- fascia adherens
- focal adhesion
- intercalated disc
- lamellipodium
- neuron projection
- plasma membrane
- plasma membrane raft
- presynapse
- sarcolemma
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of CDH2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads CDH2 as an antibody target. Whether an autoantibody or antibody against CDH2 could matter depends on whether native CDH2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CDH2 is annotated at the cell surface, where native CDH2 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label CDH2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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