Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:associatedWith |
gptkb:Cornelia_de_Lange_syndrome
|
| gptkbp:discoveredIn |
1997
|
| gptkbp:encodes |
gptkb:Structural_maintenance_of_chromosomes_protein_3
|
| gptkbp:Entrez_Gene_ID |
gptkb:ENSG00000108055
9126 |
| gptkbp:expressedIn |
various tissues
|
| gptkbp:function |
DNA repair
chromosome segregation cohesin complex component sister chromatid cohesion |
| gptkbp:HGNC_ID |
gptkb:HGNC:11125
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_10
|
| gptkbp:mutationAssociatedWith |
developmental disorders
|
| gptkbp:OMIM |
606062
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologIn |
gptkb:Mus_musculus
gptkb:Drosophila_melanogaster |
| gptkbp:proteinFamily |
gptkb:SMC_protein_family
|
| gptkbp:UniProtID |
Q9UQE7
|
| gptkbp:bfsParent |
gptkb:SMC3
|
| gptkbp:bfsLayer |
6
|
| https://www.w3.org/2000/01/rdf-schema#label |
SMC3 gene
|