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FLNC filamin C

Gene ID: 2318, updated on 29-Mar-2023
Gene type: protein coding
Also known as: ABPA; ABPL; FLN2; MFM5; MPD4; RCM5; CMH26; ABP-280; ABP280A


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. Mutations in this gene are a cause of cardiopathy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2022]

Associated conditions

See all available tests in GTR for this gene

Distal myopathy with posterior leg and anterior hand involvement
MedGen: C3279722OMIM: 614065GeneReviews: Not available
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Hypertrophic cardiomyopathy 26
MedGen: C4310749OMIM: 617047GeneReviews: Not available
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Myofibrillar myopathy 5
MedGen: C1836050OMIM: 609524GeneReviews: Not available
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Copy number response

Copy number response

No evidence available (Last evaluated 2021-07-13)

ClinGen Genome Curation Page

Sufficient evidence for dosage pathogenicity (Last evaluated 2021-07-13)

ClinGen Genome Curation PagePubMed

Genomic context

Chromosome: 7; NC_000007.14 (128830406..128859272)
Total number of exons:


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