Filamin C (7q32.1) gammafilamiini

 https://www.ncbi.nlm.nih.gov/gene/2318

Also known as

ABPA; ABPL; FLN2; MFM5; MPD4; RCM5; CMH26; ABP-280; ABP280A

Summary

This gene encodes one of three related filamin genes, specifically gamma filamin. These filamin proteins crosslink actin filaments into orthogonal networks in cortical cytoplasm and participate in the anchoring of membrane proteins for the actin cytoskeleton. Three functional domains exist in filamin: an N-terminal filamentous actin-binding domain, a C-terminal self-association domain, and a membrane glycoprotein-binding domain. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Expression Biased expression in heart (RPKM 81.4), prostate (RPKM 45.4) and 9 other tissues

Preferred Names

filamin-C

Names

ABP-280-like protein

ABP-L, gamma filamin

actin binding protein 280

filamin C, gamma

filamin-2

Conserved Domains (4) summary

smart00033
Location:165 → 257

CH; Calponin homology domain

smart00557
Location:1443 → 1536

IG_FLMN; Filamin-type immunoglobulin domains

cd00014
Location:37 → 141

CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...

pfam00630
Location:1823 → 1910

Filamin; Filamin/ABP280 repeat

 

Related articles in PubMed

1. A case report: a heterozygous deletion (2791_2805 del) in exon 18 of the filamin C gene causing filamin C-related myofibrillar myopathies in a Chinese family. Miao J, et al. BMC Neurol, 2018 Jun 4. PMID 29866061, Free PMC Article
2. A novel splicing variant in FLNC gene responsible for a highly penetrant familial dilated cardiomyopathy in an extended Iranian family. Nozari A, et al. Gene, 2018 Jun 15. PMID 29551499
3. Novel Mutation in FLNC (Filamin C) Causes Familial Restrictive Cardiomyopathy. Tucker NR, et al. Circ Cardiovasc Genet, 2017 Dec. PMID 29212899,
4. Truncating mutations on myofibrillar myopathies causing genes as prevalent molecular explanations on patients with dilated cardiomyopathy. Janin A, et al. Clin Genet, 2017 Dec. PMID 28436997
5. Screening of the Filamin C Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients. Gómez J, et al. Circ Cardiovasc Genet, 2017 Apr. PMID 28356264

GeneRIFs: Gene References Into Functions

1. we report a Chinese family suffering from filamin-C-related myofibrillar myopathy caused by a novel 15-bp deletion in exon 18 of the FLNC gene.
2. Mutation in FLNC was identified as Restrictive Cardiomyopathy - causing mutation.
3. a novel variant in FLNC was identified as pathogenic variant for familial Restrictive cardiomyopathy.
4. The study confirms that truncating variants on myofibrillar myopathies- causing genes are frequently associated with dilated cardiomyopathies and also suggest that FLNC mutations could be considered as a common cause of dilated cardiomyopathy.
5. Study found a novel splice-site mutation in FLNC gene (c.2389+1G>A) which co-segregated with all symptomatic individuals in the family with dilated cardiomyopathy (DCM). These results strongly suggest that the involvement of FLNC gene, due to haploinsufficiency, should be considered in familial cases with DCM, especially if accompanied with arrhythmia and increased incidence of sudden cardiac death.
6. Filamin C promotes lymphatic invasion and lymphatic metastasis and increases cell motility by regulating Rac1/cdc42 activites in esophageal squamous cell carcinoma.
7. Data show that the filamin C (FLNC) protein was significantly overexpressed with the development of hepatocellular carcinoma (HCC), which might play an important role in HCC invasion and metastasis.
8. Missense variant in FLNC gene is associated with reading disability.
9. suggest that the combination of the OBSCN p.Arg4444Trp variant and of the FLNC c.5161delG mutation, can cooperatively affect myofibril stability and increase the penetrance of muscular dystrophy in the French family
10. This study therefore identifies both BAG3 reduction and autophagy promotion as potential therapies for FLNC(W2710X) myofibrillar myopathy, and identifies protein insufficiency due to sequestration, compounded by impaired autophagy, as the cause.