|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
gptkb:CDHF5
gptkb:Cadherin_family_member_5
gptkb:Desmoglein_II
|
|
gptkbp:associatedWith
|
gptkb:Carvajal_syndrome
gptkb:Naxos_disease
|
|
gptkbp:clinicalTrialPhase
|
yes
|
|
gptkbp:discoveredBy
|
M. J. Wheelock et al.
|
|
gptkbp:encodes
|
gptkb:desmoglein-2_protein
|
|
gptkbp:Entrez_Gene_ID
|
1829
ENSG00000104951
|
|
gptkbp:expressedIn
|
cardiac muscle
epithelial tissue
|
|
gptkbp:foundIn
|
gptkb:human
|
|
gptkbp:fullName
|
gptkb:desmoglein-2
|
|
gptkbp:function
|
cell adhesion
component of desmosomes
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:GO_term
|
GO:0007156
GO:0005913
|
|
gptkbp:hasTranscriptVariant
|
gptkb:DSG2-201
gptkb:DSG2-202
gptkb:DSG2-203
|
|
gptkbp:HGNC_ID
|
gptkb:HGNC:3045
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
DSG2
|
|
gptkbp:interactsWith
|
gptkb:plakoglobin
gptkb:plakophilin-2
desmoplakin
|
|
gptkbp:length
|
1118 amino acids
322,000 bp
|
|
gptkbp:locatedOnChromosome
|
18
|
|
gptkbp:location
|
gptkb:18q12.1
|
|
gptkbp:mutationAssociatedWith
|
gptkb:dilated_cardiomyopathy
skin disorders
arrhythmogenic right ventricular cardiomyopathy
|
|
gptkbp:numberOfExons
|
16
|
|
gptkbp:OMIM
|
125671
|
|
gptkbp:orthologInMouse
|
gptkb:Dsg2
|
|
gptkbp:pathway
|
gptkb:cell_adhesion_molecules_(CAMs)
arrhythmogenic right ventricular cardiomyopathy pathway
|
|
gptkbp:proteinFamily
|
gptkb:cadherin
transmembrane domain
cytoplasmic tail
extracellular cadherin repeats
|
|
gptkbp:relatedTo
|
gptkb:desmoglein_family
|
|
gptkbp:species
|
gptkb:Homo_sapiens
|
|
gptkbp:subcellularLocation
|
gptkb:desmosome
gptkb:plasma_membrane
|
|
gptkbp:UniProtID
|
Q14126
|
|
gptkbp:bfsParent
|
gptkb:chromosome_18
|
|
gptkbp:bfsLayer
|
6
|