|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
merosin
laminin alpha-2 chain
|
|
gptkbp:associatedWith
|
muscular dystrophy
|
|
gptkbp:discoveredIn
|
1994
|
|
gptkbp:encodes
|
laminin subunit alpha-2
|
|
gptkbp:Entrez_Gene_ID
|
3908
|
|
gptkbp:expressedIn
|
gptkb:cancer
gptkb:skeletal_muscle
gptkb:kidney
gptkb:placenta
gptkb:testis
brain
heart
liver
pancreas
|
|
gptkbp:function
|
extracellular matrix structural constituent
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
6484
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
LAMA2
|
|
gptkbp:involvedIn
|
neural development
cell adhesion
muscle development
basement membrane assembly
|
|
gptkbp:length
|
3122 amino acids
65 exons
|
|
gptkbp:locatedOnChromosome
|
plus
6q22-q23
|
|
gptkbp:mutationAssociatedWith
|
nonsense
missense
frameshift
splice-site
MDC1A
|
|
gptkbp:OMIM
|
156225
|
|
gptkbp:orthologInChicken
|
gptkb:LAMA2
|
|
gptkbp:orthologInCow
|
gptkb:LAMA2
|
|
gptkbp:orthologInDog
|
gptkb:LAMA2
|
|
gptkbp:orthologInMouse
|
Lama2
|
|
gptkbp:orthologInZebrafish
|
lama2
|
|
gptkbp:pathway
|
gptkb:ECM-receptor_interaction
gptkb:PI3K-Akt_signaling_pathway
focal adhesion
|
|
gptkbp:product
|
merosin
|
|
gptkbp:proteinFamily
|
EGF-like domain
coiled-coil domain
laminin G domain
|
|
gptkbp:UniProtID
|
Q13751
|
|
gptkbp:bfsParent
|
gptkb:Laminin_alpha_chain
gptkb:LAMA5
gptkb:laminin
|
|
gptkbp:bfsLayer
|
7
|