|
gptkbp:instanceOf
|
gptkb:protein
|
|
gptkbp:alternativeName
|
gptkb:gamma-filamin
gptkb:ABPL
gptkb:filamin-2
|
|
gptkbp:associatedWith
|
gptkb:filamin_A
gptkb:filamin_B
cardiomyopathy
myofibrillar myopathy
|
|
gptkbp:describedYear
|
2000
|
|
gptkbp:discoveredBy
|
1990s
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:FLNC
gptkb:ENSG00000128591
|
|
gptkbp:expressedIn
|
gptkb:skeletal_muscle
cardiac muscle
|
|
gptkbp:firstDescribed
|
van der Ven et al.
|
|
gptkbp:foundIn
|
gptkb:human
gptkb:skeletal_muscle
|
|
gptkbp:function
|
cytoskeletal organization
actin-binding
mechanical stability of muscle cells
|
|
gptkbp:gene
|
gptkb:FLNC
|
|
gptkbp:HGNC_ID
|
3751
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
filamin C
|
|
gptkbp:interactsWith
|
gptkb:actin
gptkb:integrins
gptkb:dystrophin
gptkb:myotilin
|
|
gptkbp:length
|
2725
|
|
gptkbp:locatedOnChromosome
|
7q32.1
|
|
gptkbp:molecularWeight
|
290 kDa
|
|
gptkbp:mutationAssociatedWith
|
gptkb:arrhythmia
missense
muscle weakness
splice-site
truncating
|
|
gptkbp:OMIM
|
102565
|
|
gptkbp:orthologInMouse
|
gptkb:Flnc
|
|
gptkbp:PDB
|
gptkb:2J3S
|
|
gptkbp:postTranslationalModification
|
phosphorylation
ubiquitination
|
|
gptkbp:proteinFamily
|
gptkb:filamin_family
|
|
gptkbp:RefSeq
|
gptkb:NM_001458
|
|
gptkbp:subcellularLocation
|
gptkb:sarcolemma
gptkb:cytoplasm
gptkb:Z-disc
|
|
gptkbp:UniProtID
|
O75112
|
|
gptkbp:bfsParent
|
gptkb:FLNC
|
|
gptkbp:bfsLayer
|
7
|