Statements (26)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:associatedWith |
gptkb:congenital_nephrotic_syndrome
gptkb:Pierson_syndrome ocular abnormalities |
| gptkbp:discoveredIn |
1998
|
| gptkbp:encodes |
laminin subunit beta-2
|
| gptkbp:Entrez_Gene_ID |
3913
ENSG00000119681 |
| 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 gene
|
| gptkbp:involvedIn |
cell adhesion
organ development basement membrane assembly |
| gptkbp:locatedOnChromosome |
3p21
|
| gptkbp:mutationAssociatedWith |
glomerular basement membrane defects
|
| gptkbp:OMIM |
150325
|
| gptkbp:orthologInMouse |
Lamb2
|
| gptkbp:product |
laminin beta-2 chain
|
| gptkbp:UniProtID |
P55268
|
| gptkbp:bfsParent |
gptkb:congenital_nephrotic_syndrome
gptkb:Pierson_syndrome |
| gptkbp:bfsLayer |
7
|