Gene: FLNC

Alternate names for this Gene: ABP-280|ABP280A|ABPA|ABPL|CMH26|FLN2|MFM5|MPD4|RCM5

Gene 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.

Gene is located in Chromosome: 7

Location in Chromosome : 7q32.1

Description of this Gene: filamin C

Type of Gene: protein-coding

rs1114167361 in FLNC gene and CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 PMID 21520333 2011 LOVD v.2.0: the next generation in gene variant databases.

PMID 26436962 2015 Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.

PMID 27908349 2016 Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies.

PMID 25633252 2014 Prioritizing causal disease genes using unbiased genomic features.

PMID 26666891 2016 Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy.

rs1114167361 in FLNC gene and Filaminopathy, autosomal dominant PMID 26436962 2015 Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.

PMID 21520333 2011 LOVD v.2.0: the next generation in gene variant databases.

PMID 27908349 2016 Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies.

PMID 25633252 2014 Prioritizing causal disease genes using unbiased genomic features.

rs1114167361 in FLNC gene and MYOPATHY, DISTAL, 4 PMID 21520333 2011 LOVD v.2.0: the next generation in gene variant databases.

PMID 26436962 2015 Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.

PMID 27908349 2016 Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies.

PMID 21620354 2011 Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy.

PMID 25633252 2014 Prioritizing causal disease genes using unbiased genomic features.