Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
Cx40
gap junction protein alpha 5 |
| gptkbp:associatedWith |
gptkb:atrial_fibrillation
congenital heart disease |
| gptkbp:encodes |
Connexin 40
|
| gptkbp:Entrez_Gene_ID |
2702
ENSG00000163485 |
| gptkbp:expressedIn |
heart
|
| gptkbp:function |
enables cell-cell communication
forms gap junction channels |
| gptkbp:HGNC_ID |
HGNC:4284
|
| https://www.w3.org/2000/01/rdf-schema#label |
GJA5
|
| gptkbp:locatedOnChromosome |
gptkb:1q21.1
chromosome 1 |
| gptkbp:mutationAssociatedWith |
cardiac conduction defect
|
| gptkbp:OMIM |
121013
|
| gptkbp:orthologInMouse |
Gja5
|
| gptkbp:proteinFamily |
gptkb:connexins
|
| gptkbp:UniProtID |
P36382
|
| gptkbp:bfsParent |
gptkb:Familial_atrial_fibrillation
gptkb:chromosome_1q21 |
| gptkbp:bfsLayer |
7
|