Gene: CDH2

Basic information

Tag Content
Uniprot ID P19022; A8MWK3; B0YIY6; Q14923; Q8N173;
Entrez ID 1000
Genbank protein ID AAH36470.1; CAA81799.1; BAH13814.1; CAA40773.1; AAB22854.1; CAA38213.1; AAA03236.1; EAX01240.1; ACA05964.1;
Genbank nucleotide ID NM_001308176.1; NM_001792.4;
Ensembl protein ID ENSP00000269141; ENSP00000382312;
Ensembl nucleotide ID ENSG00000170558
Gene name Cadherin-2
Gene symbol CDH2
Organism Homo sapiens
NCBI taxa ID 9606
Cleft type
Developmental stage
Data sources Manually collected
Reference 29524576
Functional description Calcium-dependent cell adhesion protein; preferentially mediates homotypic cell-cell adhesion by dimerization with a CDH2 chain from another cell. Cadherins may thus contribute to the sorting of heterogeneous cell types. Acts as a regulator of neural stem cells quiescence by mediating anchorage of neural stem cells to ependymocytes in the adult subependymal zone: upon cleavage by MMP24, CDH2-mediated anchorage is affected, leading to modulate neural stem cell quiescence. CDH2 may be involved in neuronal recognition mechanism. In hippocampal neurons, may regulate dendritic spine density.
Sequence
MCRIAGALRT LLPLLAALLQ ASVEASGEIA LCKTGFPEDV YSAVLSKDVH EGQPLLNVKF 60
SNCNGKRKVQ YESSEPADFK VDEDGMVYAV RSFPLSSEHA KFLIYAQDKE TQEKWQVAVK 120
LSLKPTLTEE SVKESAEVEE IVFPRQFSKH SGHLQRQKRD WVIPPINLPE NSRGPFPQEL 180
VRIRSDRDKN LSLRYSVTGP GADQPPTGIF IINPISGQLS VTKPLDREQI ARFHLRAHAV 240
DINGNQVENP IDIVINVIDM NDNRPEFLHQ VWNGTVPEGS KPGTYVMTVT AIDADDPNAL 300
NGMLRYRIVS QAPSTPSPNM FTINNETGDI ITVAAGLDRE KVQQYTLIIQ ATDMEGNPTY 360
GLSNTATAVI TVTDVNDNPP EFTAMTFYGE VPENRVDIIV ANLTVTDKDQ PHTPAWNAVY 420
RISGGDPTGR FAIQTDPNSN DGLVTVVKPI DFETNRMFVL TVAAENQVPL AKGIQHPPQS 480
TATVSVTVID VNENPYFAPN PKIIRQEEGL HAGTMLTTFT AQDPDRYMQQ NIRYTKLSDP 540
ANWLKIDPVN GQITTIAVLD RESPNVKNNI YNATFLASDN GIPPMSGTGT LQIYLLDIND 600
NAPQVLPQEA ETCETPDPNS INITALDYDI DPNAGPFAFD LPLSPVTIKR NWTITRLNGD 660
FAQLNLKIKF LEAGIYEVPI IITDSGNPPK SNISILRVKV CQCDSNGDCT DVDRIVGAGL 720
GTGAIIAILL CIIILLILVL MFVVWMKRRD KERQAKQLLI DPEDDVRDNI LKYDEEGGGE 780
EDQDYDLSQL QQPDTVEPDA IKPVGIRRMD ERPIHAEPQY PVRSAAPHPG DIGDFINEGL 840
KAADNDPTAP PYDSLLVFDY EGSGSTAGSL SSLNSSSSGG EQDYDYLNDW GPRFKKLADM 900
YGGGDD 906

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

  

Gene expression in different tissues (ENCODE)

  

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologCDH2P19534Bos taurusPredictionMore>>
1:1 orthologCDH2480169A0A5F4CJ70Canis lupus familiarisPredictionMore>>
1:1 orthologCDH2A0A452F6F0Capra hircusPredictionMore>>
1:1 orthologCDH21000P19022Homo sapiensPublicationMore>>
1:1 orthologCdh2D3YYT0Mus musculusPredictionMore>>
1:1 orthologCDH2A0A2I3SSD4Pan troglodytesPredictionMore>>
1:1 orthologCDH2F1SAM3Sus scrofaPredictionMore>>
1:1 orthologCdh2G3V803Rattus norvegicusPredictionMore>>
1:1 orthologcdh2G1K2E7Danio rerioPredictionMore>>

Identified variants/mutations related to cleft phenotype

Gene symbol Significant Variants/SNPS Methods PubMed ID
CDH2rs539075T>GGenotyping29524576
CDH2rs539075T>GARMS-PCR; 29524576

Other genetic variants/mutations

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Disease or phenotype associated information

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0005509 calcium ion bindingISS
GO:0005509 calcium ion bindingIBA
GO:0005515 protein bindingIPI
GO:0008013 beta-catenin bindingTAS
GO:0008013 beta-catenin bindingIPI
GO:0008092 cytoskeletal protein bindingIBA
GO:0019901 protein kinase bindingIEA
GO:0019903 protein phosphatase bindingIEA
GO:0042803 protein homodimerization activityIBA
GO:0045294 alpha-catenin bindingIPI
GO:0045295 gamma-catenin bindingIPI
GO:0045296 cadherin bindingIBA

GO:Biological Process

GO ID GO Term Evidence
GO:0000902 cell morphogenesisIBA
GO:0007043 cell-cell junction assemblyIBA
GO:0007155 cell adhesionTAS
GO:0007156 homophilic cell adhesion via plasma membrane adhesion moleculesIBA
GO:0007157 heterophilic cell-cell adhesion via plasma membrane cell adhesion moleculesIEA
GO:0007275 multicellular organism developmentIBA
GO:0007416 synapse assemblyIBA
GO:0007420 brain developmentIBA
GO:0010001 glial cell differentiationISS
GO:0016339 calcium-dependent cell-cell adhesion via plasma membrane cell adhesion moleculesIBA
GO:0016477 cell migrationIEA
GO:0021987 cerebral cortex developmentIEA
GO:0034332 adherens junction organizationIBA
GO:0034332 adherens junction organizationTAS
GO:0043410 positive regulation of MAPK cascadeIEA
GO:0043687 post-translational protein modificationTAS
GO:0044267 cellular protein metabolic processTAS
GO:0044331 cell-cell adhesion mediated by cadherinISS
GO:0044331 cell-cell adhesion mediated by cadherinIBA
GO:0048514 blood vessel morphogenesisIBA
GO:0048854 brain morphogenesisIEA
GO:0048872 homeostasis of number of cellsIEA
GO:0050770 regulation of axonogenesisIBA
GO:0051146 striated muscle cell differentiationIEA
GO:0051149 positive regulation of muscle cell differentiationTAS
GO:0051966 regulation of synaptic transmission, glutamatergicIBA
GO:0060019 radial glial cell differentiationIEA
GO:0060563 neuroepithelial cell differentiationIEA
GO:0070445 regulation of oligodendrocyte progenitor proliferationIEA
GO:0072659 protein localization to plasma membraneIEA
GO:0090090 negative regulation of canonical Wnt signaling pathwayIEA
GO:0097118 neuroligin clustering involved in postsynaptic membrane assemblyIEA
GO:0097150 neuronal stem cell population maintenanceISS
GO:0098609 cell-cell adhesionISS
GO:0098609 cell-cell adhesionIBA
GO:1902897 regulation of postsynaptic density protein 95 clusteringIEA
GO:2000809 positive regulation of synaptic vesicle clusteringIEA

GO:Cellular Component

GO ID GO Term Evidence
GO:0005737 cytoplasmIBA
GO:0005737 cytoplasmIDA
GO:0005788 endoplasmic reticulum lumenTAS
GO:0005886 plasma membraneIBA
GO:0005886 plasma membraneIDA
GO:0005886 plasma membraneTAS
GO:0005887 integral component of plasma membraneISS
GO:0005911 cell-cell junctionIDA
GO:0005912 adherens junctionIDA
GO:0005912 adherens junctionIBA
GO:0005916 fascia adherensIEA
GO:0005925 focal adhesionHDA
GO:0009986 cell surfaceISS
GO:0009986 cell surfaceIBA
GO:0014069 postsynaptic densityIBA
GO:0014704 intercalated discISS
GO:0014704 intercalated discIBA
GO:0016323 basolateral plasma membraneIEA
GO:0016324 apical plasma membraneIEA
GO:0016342 catenin complexIBA
GO:0016342 catenin complexIDA
GO:0030027 lamellipodiumIBA
GO:0030027 lamellipodiumIDA
GO:0030054 cell junctionIDA
GO:0042383 sarcolemmaIEA
GO:0043005 neuron projectionIBA
GO:0044853 plasma membrane raftIEA
GO:0045177 apical part of cellIBA
GO:0045202 synapseIBA
GO:0062023 collagen-containing extracellular matrixHDA
GO:0099059 integral component of presynaptic active zone membraneIBA
GO:0099060 integral component of postsynaptic specialization membraneIBA
GO:0030864 cortical actin cytoskeletonIDA

Reactome Pathway

Reactome ID Reactome Term Evidence
R-HSA-1266738 Developmental BiologyTAS
R-HSA-1266738 Developmental BiologyIEA
R-HSA-1500931 Cell-Cell communicationTAS
R-HSA-381426 Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)TAS
R-HSA-392499 Metabolism of proteinsTAS
R-HSA-418990 Adherens junctions interactionsTAS
R-HSA-421270 Cell-cell junction organizationTAS
R-HSA-446728 Cell junction organizationTAS
R-HSA-525793 MyogenesisTAS
R-HSA-525793 MyogenesisIEA
R-HSA-597592 Post-translational protein modificationTAS
R-HSA-8957275 Post-translational protein phosphorylationTAS

Drugs and compounds information

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Functional annotations

Keywords

Keyword ID Keyword Term
KW-0025 Alternative splicing
KW-0106 Calcium
KW-0130 Cell adhesion
KW-0965 Cell junction
KW-1003 Cell membrane
KW-0165 Cleavage on pair of basic residues
KW-0325 Glycoprotein
KW-0472 Membrane
KW-0479 Metal-binding
KW-0597 Phosphoprotein
KW-0621 Polymorphism
KW-1185 Reference proteome
KW-0677 Repeat
KW-0732 Signal
KW-0812 Transmembrane
KW-1133 Transmembrane helix

Interpro

InterPro ID InterPro Term
IPR039808 Cadherin
IPR002126 Cadherin-like_dom
IPR015919 Cadherin-like_sf
IPR020894 Cadherin_CS
IPR000233 Cadherin_cytoplasmic-dom
IPR014868 Cadherin_pro_dom
IPR027397 Catenin_binding_dom_sf
IPR030051 CDH2

PROSITE

PROSITE ID PROSITE Term
PS00232 CADHERIN_1
PS50268 CADHERIN_2

Pfam

Pfam ID Pfam Term
PF00028 Cadherin
PF01049 Cadherin_C
PF08758 Cadherin_pro

Protein-protein interaction

Protein-miRNA interaction