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filamin C; gamma filamin; filamin-2; actin binding protein-280 autosomal form; protein FLNc; actin-binding-like protein; ABP-L; ABP-280-like protein (FLNC, ABPL, FLN2)
Function:
1) muscle-specific filamin
2) actin-crosslinking protein (putative)
3) reorganization of the actin cytoskeleton in response to signaling (putative)
4) structural functions at Z-disks in muscle cells (putative)
5) interacts with FLNB, KCND2,ITGB1A, INPPL1, MYOT, MYOZ1, MYOZSGCD, SGCG
Compartment:
- cytoplasm
- peripheral membrane
- myofibrillar Z-disks
- subsarcolemma
Expression:
- expressed in striated muscles > thyroid, fetal brain, fetal lung, retina, spinal cord, bone marrow
Pathology:
- silenced in MKN28 & MKN74 gastric cancer cell lines due to aberrant methylation of the gene
Related
fln2 gene
General
filamin (actin-binding protein)
Properties
CONFIGURATION: dimer
SIZE: MW = 291 kD
entity length = 2725 aa
COMPARTMENT: cytoplasm
MOTIF: actin-binding site
SITE: 1-259
FOR-BINDING-OF: F-actin
MOTIF: calponin homology domain
NAME: calponin homology domain
SITE: 36-142
calponin homology domain
NAME: calponin homology domain
SITE: 159-259
Filamin Repeat {270-1244} (10)
Filamin Repeat {1245-1734} (5)
Hinge 1 {1735-1758}
Filamin Repeat {1759-1853} (4)
Intradomain insert {2162-2243}
Filamin Repeat {2244-2496} (3)
binding site
SITE: 2403-2724
FOR-BINDING-OF: INPPL1
MOTIF: Filamin Repeat {2500-2592}
Self-association {2593-2725}
MOTIF: Hinge 2 {2593-2629}
Filamin Repeat {2630-2724}
Database Correlations
OMIM correlations
MORBIDMAP 102565
UniProt Q14315
PFAM correlations
Entrez Gene 2318
References
- Entrez Gene :accession 2318
- UniProt :accession Q14315