Statements (23)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:associatedWith |
gptkb:congenital_nephrotic_syndrome
gptkb:Pierson_syndrome |
gptkbp:encodes |
laminin subunit beta-2
|
gptkbp:Entrez_Gene_ID |
3913
ENSG00000175899 |
gptkbp:expressedIn |
gptkb:skeletal_muscle
gptkb:kidney eye |
gptkbp:hasRefSeqID |
NM_002292
|
gptkbp:HGNC_ID |
6487
|
https://www.w3.org/2000/01/rdf-schema#label |
LAMB2
|
gptkbp:locatedOnChromosome |
3p21
|
gptkbp:mutationAssociatedWith |
ocular abnormalities
glomerular basement membrane defects neuromuscular defects |
gptkbp:OMIM |
150325
|
gptkbp:orthologInMouse |
Lamb2
|
gptkbp:partOf |
laminin-521 complex
|
gptkbp:product |
laminin beta-2 chain
|
gptkbp:UniProtID |
P55268
|
gptkbp:bfsParent |
gptkb:laminin
|
gptkbp:bfsLayer |
7
|