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

Gene ID: 68794, updated on 12-May-2024

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 cytosol; 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 muscular dystrophy 4; hypertrophic cardiomyopathy 26; and myofibrillar myopathy 5. Orthologous to human FLNC (filamin C). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in bladder adult (RPKM 22.4), heart adult (RPKM 22.2) and 16 other tissues See more
Orthologs
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Genomic context

See Flnc in Genome Data Viewer
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_000072.7Genomic Context describing neighboring genes Neighboring gene nuclear encoded tRNA proline 6 (anticodon AGG) Neighboring gene coiled-coil domain containing 136 Neighboring gene STARR-positive B cell enhancer mm9_chr6:29417613-29417914 Neighboring gene ATPase, H+ transporting, lysosomal V1 subunit F Neighboring gene sperm microtubule inner protein 1 Neighboring gene kielin/chordin-like protein

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (5) 
  • Targeted (5)  1 citation

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

General protein information

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)

  1. NM_001081185.2NP_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:166258
    CH; Calponin homology domain
    smart00557
    Location:18631949
    IG_FLMN; Filamin-type immunoglobulin domains
    cd00014
    Location:38142
    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:18571944
    Filamin; Filamin/ABP280 repeat
  2. NM_001311074.2NP_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:166258
    CH; Calponin homology domain
    smart00557
    Location:18301916
    IG_FLMN; Filamin-type immunoglobulin domains
    cd00014
    Location:38142
    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:18241911
    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

  1. NC_000072.7 Reference GRCm39 C57BL/6J

    Range
    29433150..29461888
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Conserved Domains (4) summary
    smart00557
    Location:18841970
    IG_FLMN; Filamin-type immunoglobulin domains
    pfam00630
    Location:24292515
    Filamin; Filamin/ABP280 repeat
    cd21310
    Location:23147
    CH_FLNC_rpt1; first calponin homology (CH) domain found in filamin-C (FLN-C) and similar proteins
    cd21314
    Location:151265
    CH_FLNC_rpt2; second calponin homology (CH) domain found in filamin-C (FLN-C) and similar proteins
  2. XM_036152283.1XP_036008176.1  filamin-C isoform X2

    Conserved Domains (4) summary
    smart00557
    Location:18511937
    IG_FLMN; Filamin-type immunoglobulin domains
    pfam00630
    Location:23962482
    Filamin; Filamin/ABP280 repeat
    cd21310
    Location:23147
    CH_FLNC_rpt1; first calponin homology (CH) domain found in filamin-C (FLN-C) and similar proteins
    cd21314
    Location:151265
    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

  1. 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.