|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:CD325
gptkb:N-cadherin
cadherin 2
|
|
gptkbp:associatedWith
|
congenital heart defects
neurodevelopmental disorders
arrhythmogenic right ventricular cardiomyopathy
cancer metastasis
|
|
gptkbp:biologicalProcess
|
embryonic development
calcium ion binding
cell-cell adhesion
synapse assembly
|
|
gptkbp:clinicalTrialPhase
|
genetic testing for cardiomyopathy
|
|
gptkbp:discoveredBy
|
gptkb:Takeichi_M.
|
|
gptkbp:encodes
|
N-cadherin protein
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000170558
1000
|
|
gptkbp:expressedIn
|
gptkb:skeletal_muscle
brain
heart
|
|
gptkbp:firstDescribed
|
1987
|
|
gptkbp:function
|
neural development
cell adhesion
cardiac morphogenesis
|
|
gptkbp:GOID
|
GO:0007156
|
|
gptkbp:hasTranscriptVariant
|
multiple isoforms
|
|
gptkbp:HGNC_ID
|
1756
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
CDH2 gene
|
|
gptkbp:interactsWith
|
gptkb:FGFR1
gptkb:alpha-catenin
gptkb:p120-catenin
gptkb:beta-catenin
actin cytoskeleton
|
|
gptkbp:length
|
906 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_18
|
|
gptkbp:mutationAssociatedWith
|
gptkb:arrhythmia
developmental disorders
|
|
gptkbp:OMIM
|
114020
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
gptkb:Cdh2
|
|
gptkbp:orthologInZebrafish
|
cdh2
|
|
gptkbp:pathway
|
gptkb:Wnt_signaling_pathway
adherens junction
|
|
gptkbp:proteinFamily
|
gptkb:cadherin_superfamily
transmembrane domain
cytoplasmic domain
extracellular cadherin repeats
|
|
gptkbp:regulates
|
epigenetic regulation
transcriptional regulation
|
|
gptkbp:subcellularLocation
|
gptkb:plasma_membrane
cell junctions
|
|
gptkbp:UniProtID
|
P19022
|
|
gptkbp:bfsParent
|
gptkb:Neural_cadherin
gptkb:CD325
gptkb:N-cadherin
|
|
gptkbp:bfsLayer
|
8
|