Statements (26)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
gptkb:dilated_cardiomyopathy
arrhythmogenic right ventricular cardiomyopathy skin fragility-woolly hair syndrome |
| gptkbp:encodes |
Desmocollin-2 protein
|
| gptkbp:Entrez_Gene_ID |
1824
ENSG00000173598 |
| gptkbp:expressedIn |
gptkb:skin
heart |
| gptkbp:fullName |
desmocollin-2
|
| gptkbp:function |
cell adhesion
|
| gptkbp:hasTranscriptVariant |
multiple
|
| gptkbp:HGNC_ID |
HGNC:3035
|
| https://www.w3.org/2000/01/rdf-schema#label |
DSC2
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_18
gptkb:18q12.1 |
| gptkbp:memberOf |
gptkb:cadherin_superfamily
|
| gptkbp:mutationAssociatedWith |
gptkb:arrhythmia
skin disorders |
| gptkbp:OMIM |
125645
|
| gptkbp:orthologInMouse |
Dsc2
|
| gptkbp:product |
desmosomal cadherin
|
| gptkbp:UniProtID |
Q02487
|
| gptkbp:bfsParent |
gptkb:chromosome_18
|
| gptkbp:bfsLayer |
6
|