Statements (20)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:abbreviation |
gptkb:SMN2
|
| gptkbp:alternativeSplicing |
produces truncated SMN protein
|
| gptkbp:associatedWith |
spinal muscular atrophy
|
| gptkbp:encodes |
gptkb:SMN_protein
|
| gptkbp:Entrez_Gene_ID |
6607
|
| gptkbp:expressedIn |
various tissues
|
| gptkbp:function |
involved in snRNP assembly
|
| gptkbp:hasParalog |
gptkb:SMN1
|
| gptkbp:HGNC_ID |
11102
|
| https://www.w3.org/2000/01/rdf-schema#label |
Survival of Motor Neuron 2
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_5
|
| gptkbp:location |
5q13.2
|
| gptkbp:mutationAssociatedWith |
modifies severity of spinal muscular atrophy
|
| gptkbp:OMIM |
601627
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Smn2
|
| gptkbp:bfsParent |
gptkb:SMN2
gptkb:SMN2_gene |
| gptkbp:bfsLayer |
7
|