Flnc filamin C, gamma [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Flncprovided by MGI
Official Full Name: filamin C, gammaprovided by MGI
Primary source: MGI:MGI:95557
See related: Ensembl:ENSMUSG00000068699 AllianceGenome:MGI:95557
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: ABPL; Fln2; ABP-280; 1110055E19Rik
Summary: Predicted to enable ankyrin binding activity and identical protein binding activity. Involved in muscle cell development. Predicted to be located in several cellular components, including intercellular bridge; sarcolemma; and sarcoplasm. Is expressed in several structures, including diaphragm; embryo mesenchyme; heart; skeletal musculature; and spinal cord ventricular layer. Used to study myofibrillar myopathy 5. Human ortholog(s) of this gene implicated in distal myopathy 4; hypertrophic cardiomyopathy 26; and myofibrillar myopathy 5. Orthologous to human FLNC (filamin C). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in bladder adult (RPKM 22.4), heart adult (RPKM 22.2) and 16 other tissues See more
Orthologs: human all
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Genomic context

Location:: 6 A3.3; 6 12.36 cM

Exon count:: 49

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (29433150..29461888)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (29433153..29461889)

Chromosome 6 - NC_000072.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interaction of Filamin C With Actin Is Essential for Cardiac Development and Function.
Title: Interaction of Filamin C With Actin Is Essential for Cardiac Development and Function.
Filamin C is Essential for mammalian myocardial integrity.
Title: Filamin C is Essential for mammalian myocardial integrity.
Subcellular Remodeling in Filamin C Deficient Mouse Hearts Impairs Myocyte Tension Development during Progression of Dilated Cardiomyopathy.
Title: Subcellular Remodeling in Filamin C Deficient Mouse Hearts Impairs Myocyte Tension Development during Progression of Dilated Cardiomyopathy.
FLNC Expression Level Influences the Activity of TEAD-YAP/TAZ Signaling.
Title: FLNC Expression Level Influences the Activity of TEAD-YAP/TAZ Signaling.
Homozygous expression of the myofibrillar myopathy-associated p.W2710X filamin C variant reveals major pathomechanisms of sarcomeric lesion formation.
Title: Homozygous expression of the myofibrillar myopathy-associated p.W2710X filamin C variant reveals major pathomechanisms of sarcomeric lesion formation.
Loss of Filamin C Is Catastrophic for Heart Function.
Title: Loss of Filamin C Is Catastrophic for Heart Function.
HSPB7 is essential for maintaining muscle integrity, which is achieved through its interaction with FLNC
Title: HSPB7 interacts with dimerized FLNC and its absence results in progressive myopathy in skeletal muscles.
The data of this study presented here provide further support that FLNC, a muscle-specific protein, could be a potential novel player in FTD pathogenesis.
Title: Investigating the role of filamin C in Belgian patients with frontotemporal dementia linked to GRN deficiency in FTLD-TDP brains.
Aciculin interacts with filamin C and Xin and is essential for myofibril assembly.
Title: Aciculin interacts with filamin C and Xin and is essential for myofibril assembly, remodeling and maintenance.
KY, IGFN1 and FLNC are part of a Z-band associated protein complex likely to provide structural support to the skeletal muscle sarcomere.
Title: Identification of a Z-band associated protein complex involving KY, FLNC and IGFN1.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (5)
Targeted (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Flnc (e-PCR), detects polymorphism
- UniSTS:477293

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables actin binding	TAS Traceable Author Statement more info	PubMed
enables actin filament binding	IEA Inferred from Electronic Annotation more info
enables ankyrin binding	IEA Inferred from Electronic Annotation more info
enables ankyrin binding	ISO Inferred from Sequence Orthology more info
enables cytoskeletal protein binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within actin filament-based process	TAS Traceable Author Statement more info	PubMed
involved_in muscle cell development	IDA Inferred from Direct Assay more info	PubMed
involved_in sarcomere organization	ISO Inferred from Sequence Orthology more info
involved_in sarcomere organization	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in Z disc	IEA Inferred from Electronic Annotation more info
located_in actin cytoskeleton	TAS Traceable Author Statement more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in intercellular bridge	IEA Inferred from Electronic Annotation more info
located_in intercellular bridge	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in sarcolemma	IEA Inferred from Electronic Annotation more info
located_in sarcolemma	ISO Inferred from Sequence Orthology more info
located_in sarcoplasm	IEA Inferred from Electronic Annotation more info
located_in sarcoplasm	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: filamin-C

Names: ABP-280-like protein; actin-binding protein 280; actin-binding-like protein; filamin-2

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.

mRNA and Protein(s)

NM_001081185.2 → NP_001074654.1 filamin-C isoform 1

See identical proteins and their annotated locations for NP_001074654.1

Status: VALIDATED

Description

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

Source sequence(s)

AC044807

Consensus CDS

CCDS39452.1

UniProtKB/Swiss-Prot

B2RY80, B9EKT2, Q6PAI6, Q8VHX6, Q9JJ38

Related

ENSMUSP00000064163.7, ENSMUST00000065090.8

Conserved Domains (4) summary

smart00033
Location:166 → 258

CH; Calponin homology domain

smart00557
Location:1863 → 1949

IG_FLMN; Filamin-type immunoglobulin domains

cd00014
Location:38 → 142

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:1857 → 1944

Filamin; Filamin/ABP280 repeat
NM_001311074.2 → NP_001298003.1 filamin-C isoform 2

See identical proteins and their annotated locations for NP_001298003.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. It encodes isoform 2, which lacks an internal segment and is shorter, compared to isoform 1.

Source sequence(s)

AC044807, AK051985, BC158128, BU756210

Consensus CDS

CCDS80503.1

UniProtKB/Swiss-Prot

Q8VHX6

Related

ENSMUSP00000099139.4, ENSMUST00000101617.9

Conserved Domains (4) summary

smart00033
Location:166 → 258

CH; Calponin homology domain

smart00557
Location:1830 → 1916

IG_FLMN; Filamin-type immunoglobulin domains

cd00014
Location:38 → 142

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:1824 → 1911

Filamin; Filamin/ABP280 repeat

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000072.7 Reference GRCm39 C57BL/6J

Range

29433150..29461888

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036152282.1 → XP_036008175.1 filamin-C isoform X1

Conserved Domains (4) summary

smart00557
Location:1884 → 1970

IG_FLMN; Filamin-type immunoglobulin domains

pfam00630
Location:2429 → 2515

Filamin; Filamin/ABP280 repeat

cd21310
Location:23 → 147

CH_FLNC_rpt1; first calponin homology (CH) domain found in filamin-C (FLN-C) and similar proteins

cd21314
Location:151 → 265

CH_FLNC_rpt2; second calponin homology (CH) domain found in filamin-C (FLN-C) and similar proteins
XM_036152283.1 → XP_036008176.1 filamin-C isoform X2

Conserved Domains (4) summary

smart00557
Location:1851 → 1937

IG_FLMN; Filamin-type immunoglobulin domains

pfam00630
Location:2396 → 2482

Filamin; Filamin/ABP280 repeat

cd21310
Location:23 → 147

CH_FLNC_rpt1; first calponin homology (CH) domain found in filamin-C (FLN-C) and similar proteins

cd21314
Location:151 → 265

CH_FLNC_rpt2; second calponin homology (CH) domain found in filamin-C (FLN-C) and similar proteins

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_026839.1: Suppressed sequence

Description

NM_026839.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.