FLNC filamin C

Gene ID: 2318, updated on 11-Apr-2024
Gene type: protein coding
Also known as: ABPA; ABPL; FLN2; MFM5; MPD4; RCM5; CMH26; ARVC15; 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. 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

Description	Tests
Distal myopathy with posterior leg and anterior hand involvement MedGen: C3279722OMIM: 614065GeneReviews: Not available	See labs
Hypertrophic cardiomyopathy 26 MedGen: C4310749OMIM: 617047GeneReviews: Not available	See labs
Myofibrillar myopathy 5 MedGen: C1836050OMIM: 609524GeneReviews: Not available	See labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2021-07-13) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2021-07-13) ClinGen Genome Curation PagePubMed

Genomic context

Location:: 7q32.1

Sequence:: Chromosome: 7; NC_000007.14 (128830406..128859272)

Total number of exons:: 48

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for FLNC variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
FLNC homepage - Leiden Muscular Dystrophy pages
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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