Statements (31)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
Cx43
gap junction alpha-1 protein |
| gptkbp:associatedWith |
erythrokeratodermia variabilis et progressiva
oculodentodigital dysplasia |
| gptkbp:discoveredBy |
Beyer et al.
|
| gptkbp:encodes |
Connexin 43
|
| gptkbp:Entrez_Gene_ID |
2697
ENSG00000152661 |
| gptkbp:expressedIn |
brain
heart liver |
| gptkbp:function |
gap junction channel activity
cell-cell communication |
| gptkbp:geneType |
protein-coding
|
| gptkbp:hasTranscriptVariant |
multiple
|
| gptkbp:HGNC_ID |
HGNC:4284
|
| https://www.w3.org/2000/01/rdf-schema#label |
GJA1
|
| gptkbp:length |
382 amino acids
|
| gptkbp:locatedOnChromosome |
6q22.31
|
| gptkbp:molecularWeight |
43 kDa
|
| gptkbp:mutationAssociatedWith |
gptkb:arrhythmia
syndactyly oculodentodigital dysplasia |
| gptkbp:OMIM |
121014
|
| gptkbp:orthologInMouse |
Gja1
|
| gptkbp:proteinFamily |
gptkb:connexins
|
| gptkbp:UniProtID |
P17302
|
| gptkbp:bfsParent |
gptkb:Familial_atrial_fibrillation
gptkb:chromosome_1q21 |
| gptkbp:bfsLayer |
7
|