FLNC filamin C [Homo sapiens (human)] - Gene

Summary

Official Symbol: FLNCprovided by HGNC
Official Full Name: filamin Cprovided by HGNC
Primary source: HGNC:HGNC:3756
See related: Ensembl:ENSG00000128591 MIM:102565; AllianceGenome:HGNC:3756
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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]
Expression: Biased expression in heart (RPKM 81.4), prostate (RPKM 45.4) and 9 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q32.1

Exon count:: 48

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (128830406..128859272)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (130143333..130172198)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (128470460..128499326)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interaction of the C-terminal immunoglobulin-like domains (Ig 22-24) of filamin C with human small heat shock proteins.
Title: Interaction of the C-terminal immunoglobulin-like domains (Ig 22-24) of filamin C with human small heat shock proteins.
Filamin C Deficiency Impairs Sarcomere Stability and Activates Focal Adhesion Kinase through PDGFRA Signaling in Induced Pluripotent Stem Cell-Derived Cardiomyocytes.
Title: Filamin C Deficiency Impairs Sarcomere Stability and Activates Focal Adhesion Kinase through PDGFRA Signaling in Induced Pluripotent Stem Cell-Derived Cardiomyocytes.
Phenotypic variability of filamin C-related cardiomyopathy: Insights from a novel Dutch founder variant.
Title: Phenotypic variability of filamin C-related cardiomyopathy: Insights from a novel Dutch founder variant.
Characteristic Imaging Phenotype of Arrhythmogenic Cardiomyopathy With Filamin C Gene Variant.
Title: Characteristic Imaging Phenotype of Arrhythmogenic Cardiomyopathy With Filamin C Gene Variant.
Multicenter clinical and functional evidence reclassifies a recurrent noncanonical filamin C splice-altering variant.
Title: Multicenter clinical and functional evidence reclassifies a recurrent noncanonical filamin C splice-altering variant.
Genetic characterization of dilated cardiomyopathy patients undergoing heart transplantation in the Chinese population by whole-exome sequencing.
Title: Genetic characterization of dilated cardiomyopathy patients undergoing heart transplantation in the Chinese population by whole-exome sequencing.
Novel Filamin C Myofibrillar Myopathy Variants Cause Different Pathomechanisms and Alterations in Protein Quality Systems.
Title: Novel Filamin C Myofibrillar Myopathy Variants Cause Different Pathomechanisms and Alterations in Protein Quality Systems.
Novel filamin C (FLNC) variant causes a severe form of familial mixed hypertrophic-restrictive cardiomyopathy.
Title: Novel filamin C (FLNC) variant causes a severe form of familial mixed hypertrophic-restrictive cardiomyopathy.
Cardiac filaminopathies: lights and shadows in the phenotype associated with the FLNC gene.
Title: Cardiac filaminopathies: lights and shadows in the phenotype associated with the FLNC gene.
ROD2 domain filamin C missense mutations exhibit a distinctive cardiac phenotype with restrictive/hypertrophic cardiomyopathy and saw-tooth myocardium.
Title: ROD2 domain filamin C missense mutations exhibit a distinctive cardiac phenotype with restrictive/hypertrophic cardiomyopathy and saw-tooth myocardium.

Submit: New GeneRIF Correction See all GeneRIFs (80)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Distal myopathy with posterior leg and anterior hand involvement MedGen: C3279722 OMIM: 614065 GeneReviews: Not available	Compare labs
Hypertrophic cardiomyopathy 26 MedGen: C4310749 OMIM: 617047 GeneReviews: Not available	Compare labs
Myofibrillar myopathy 5 MedGen: C1836050 OMIM: 609524 GeneReviews: Not available	Compare 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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 gp120 promotes filamin binding to both CD4 and CXCR4	PubMed
retropepsin	gag-pol	A number of focal adhesion plaque proteins are specifically cleaved by HIV-1 protease, including fimbrin, focal adhesion plaque kinase (FAK), talin, and, to a lesser extent, filamin, spectrin and fibronectin	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables actin filament binding	IEA Inferred from Electronic Annotation more info
enables ankyrin binding	IPI Inferred from Physical Interaction more info	PubMed
enables cytoskeletal protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in sarcomere organization	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Z disc	IEA Inferred from Electronic Annotation more info
located_in costamere	TAS Traceable Author Statement more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in focal adhesion	HDA more info	PubMed
located_in intercellular bridge	IDA Inferred from Direct Assay more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in sarcolemma	IDA Inferred from Direct Assay more info	PubMed
located_in sarcoplasm	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: filamin-C

Names: ABP-280-like protein; ABP-L, gamma filamin; actin binding protein 280; filamin C, gamma; filamin-2; gamma filamin

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_011807.1 RefSeqGene

Range

5001..33846

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_870

mRNA and Protein(s)

NM_001127487.2 → NP_001120959.1 filamin-C isoform b

See identical proteins and their annotated locations for NP_001120959.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.

Source sequence(s)

AC025594

Consensus CDS

CCDS47705.1

UniProtKB/Swiss-Prot

Q14315

UniProtKB/TrEMBL

Q59H94

Related

ENSP00000344002.6, ENST00000346177.6

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
NM_001458.5 → NP_001449.3 filamin-C isoform a

See identical proteins and their annotated locations for NP_001449.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).

Source sequence(s)

AC025594

Consensus CDS

CCDS43644.1

UniProtKB/Swiss-Prot

B2ZZ88, O95303, Q07985, Q14315, Q9NS12, Q9NYE5, Q9UMR8, Q9Y503

Related

ENSP00000327145.8, ENST00000325888.13

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:1856 → 1943

Filamin; Filamin/ABP280 repeat