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Flna filamin, alpha [ Mus musculus (house mouse) ]

Gene ID: 192176, updated on 4-Jan-2025

Summary

Official Symbol
Flnaprovided by MGI
Official Full Name
filamin, alphaprovided by MGI
Primary source
MGI:MGI:95556
See related
Ensembl:ENSMUSG00000031328 AllianceGenome:MGI:95556
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
Fln1; Dilp2; ABP-280; GENA 379; filamin-1; F730004A14Rik
Summary
Enables potassium channel regulator activity and protein kinase C binding activity. Involved in several processes, including blood vessel remodeling; circulatory system development; and regulation of neuron projection development. Acts upstream of or within actin cytoskeleton organization; early endosome to late endosome transport; and epithelial to mesenchymal transition. Located in several cellular components, including Z disc; actin cytoskeleton; and trans-Golgi network. Is expressed in several structures, including bone; brain; great vessel of heart; gut; and heart. Used to study periventricular nodular heterotopia. Human ortholog(s) of this gene implicated in X-linked chronic idiopathic intestinal pseudo-obstruction; bone development disease (multiple); heart valve disease (multiple); periventricular nodular heterotopia; and terminal osseous dysplasia. Orthologous to human FLNA (filamin A). [provided by Alliance of Genome Resources, Jan 2025]
Expression
Broad expression in bladder adult (RPKM 809.2), ovary adult (RPKM 279.4) and 17 other tissues See more
Orthologs
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Genomic context

See Flna in Genome Data Viewer
Location:
X A7.3; X 37.89 cM
Exon count:
50
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (73267067..73293787, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (74223461..74249854, complement)

Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene ribosomal protein L3, pseudogene 2 Neighboring gene transketolase-like 1 Neighboring gene CapStarr-seq enhancer MGSCv37_chrX:71489308-71489552 Neighboring gene emerin Neighboring gene eukaryotic translation initiation factor 1 pseudogene Neighboring gene STARR-seq mESC enhancer starr_47366 Neighboring gene small nucleolar RNA, H/ACA box 70 Neighboring gene ribosomal protein L10

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)
  • Chemically induced (ENU) (1)  1 citation
  • Endonuclease-mediated (4) 
  • Gene trapped (1) 
  • Targeted (3)  1 citation

Pathways from PubChem

Interactions

General gene information

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables DNA-binding transcription factor binding  
enables DNA-binding transcription factor binding  
enables Fc-gamma receptor I complex binding  
enables Fc-gamma receptor I complex binding  
enables G protein-coupled receptor binding  
enables G protein-coupled receptor binding  
enables GTPase binding  
enables SMAD binding  
enables SMAD binding  
enables actin binding PubMed 
enables actin filament binding  
enables actin filament binding  
enables kinase binding  
enables potassium channel regulator activity PubMed 
enables potassium channel regulator activity  
enables protein binding PubMed 
enables protein homodimerization activity  
enables protein homodimerization activity  
enables protein kinase C binding PubMed 
enables protein-containing complex binding  
enables small GTPase binding  
enables small GTPase binding  
enables transmembrane transporter binding  
enables transmembrane transporter binding  
Items 1 - 25 of 79
Process Evidence Code Pubs
involved_in actin crosslink formation  
involved_in actin crosslink formation  
acts_upstream_of_or_within actin cytoskeleton organization PubMed 
involved_in actin cytoskeleton organization  
involved_in actin cytoskeleton organization  
involved_in adenylate cyclase-inhibiting dopamine receptor signaling pathway  
involved_in adenylate cyclase-inhibiting dopamine receptor signaling pathway  
involved_in angiogenesis PubMed 
involved_in blood coagulation, intrinsic pathway PubMed 
involved_in blood vessel remodeling PubMed 
involved_in cell-cell junction organization PubMed 
involved_in cerebral cortex development  
involved_in cilium assembly  
involved_in cilium assembly  
involved_in cytoplasmic sequestering of protein  
involved_in cytoplasmic sequestering of protein  
acts_upstream_of_or_within early endosome to late endosome transport PubMed 
acts_upstream_of_or_within epithelial to mesenchymal transition PubMed 
involved_in establishment of Sertoli cell barrier  
involved_in establishment of Sertoli cell barrier  
involved_in establishment of protein localization  
involved_in establishment of protein localization  
involved_in formation of radial glial scaffolds  
involved_in formation of radial glial scaffolds  
involved_in heart morphogenesis PubMed 
involved_in mRNA transcription by RNA polymerase II  
involved_in mRNA transcription by RNA polymerase II  
involved_in megakaryocyte development PubMed 
acts_upstream_of_or_within mitotic spindle assembly PubMed 
involved_in negative regulation of DNA-binding transcription factor activity  
involved_in negative regulation of DNA-binding transcription factor activity  
involved_in negative regulation of apoptotic process  
involved_in negative regulation of apoptotic process  
involved_in negative regulation of neuron projection development PubMed 
involved_in negative regulation of protein catabolic process  
involved_in negative regulation of protein catabolic process  
involved_in negative regulation of transcription by RNA polymerase I  
involved_in negative regulation of transcription by RNA polymerase I  
involved_in positive regulation of actin filament bundle assembly  
involved_in positive regulation of actin filament bundle assembly  
involved_in positive regulation of axon regeneration PubMed 
involved_in positive regulation of canonical NF-kappaB signal transduction  
involved_in positive regulation of integrin-mediated signaling pathway  
involved_in positive regulation of integrin-mediated signaling pathway  
involved_in positive regulation of neural precursor cell proliferation  
involved_in positive regulation of neural precursor cell proliferation  
involved_in positive regulation of neuron migration  
involved_in positive regulation of neuron migration  
involved_in positive regulation of platelet activation PubMed 
involved_in positive regulation of potassium ion transmembrane transport PubMed 
involved_in positive regulation of potassium ion transmembrane transport  
involved_in positive regulation of protein import into nucleus  
involved_in positive regulation of protein import into nucleus  
involved_in positive regulation of substrate adhesion-dependent cell spreading  
involved_in positive regulation of substrate adhesion-dependent cell spreading  
involved_in protein localization to bicellular tight junction  
involved_in protein localization to bicellular tight junction  
involved_in protein localization to cell surface  
involved_in protein localization to cell surface  
involved_in protein localization to plasma membrane PubMed 
involved_in protein localization to plasma membrane  
involved_in protein stabilization  
involved_in protein stabilization  
involved_in receptor clustering  
involved_in receptor clustering  
involved_in regulation of actin filament bundle assembly PubMed 
involved_in regulation of cell migration  
involved_in regulation of cell migration  
involved_in regulation of membrane repolarization during atrial cardiac muscle cell action potential PubMed 
involved_in regulation of membrane repolarization during cardiac muscle cell action potential PubMed 
involved_in release of sequestered calcium ion into cytosol PubMed 
involved_in semaphorin-plexin signaling pathway PubMed 
involved_in semaphorin-plexin signaling pathway PubMed 
involved_in semaphorin-plexin signaling pathway  
involved_in synapse organization PubMed 
involved_in synapse organization PubMed 
involved_in tubulin deacetylation  
involved_in wound healing, spreading of cells  
involved_in wound healing, spreading of cells  
Items 1 - 25 of 79
Items 1 - 20 of 40
Component Evidence Code Pubs
part_of Myb complex PubMed 
located_in Z disc PubMed 
located_in actin cytoskeleton PubMed 
located_in actin cytoskeleton  
located_in actin filament  
located_in actin filament  
located_in actin filament bundle PubMed 
located_in apical dendrite  
located_in apical dendrite  
located_in axonal growth cone PubMed 
located_in brush border PubMed 
located_in cell cortex  
located_in cell-cell junction  
located_in cell-cell junction  
located_in cortical cytoskeleton  
located_in cortical cytoskeleton  
located_in cytoplasm  
located_in cytoplasm  
located_in cytosol  
located_in cytosol  
located_in dendritic shaft  
located_in dendritic shaft  
located_in glutamatergic synapse  
is_active_in glutamatergic synapse  
part_of glycoprotein Ib-IX-V complex PubMed 
located_in growth cone PubMed 
located_in neuronal cell body  
located_in nucleolus  
located_in nucleolus  
located_in nucleus  
located_in nucleus  
located_in perikaryon  
located_in perinuclear region of cytoplasm  
located_in perinuclear region of cytoplasm  
located_in plasma membrane  
located_in plasma membrane  
located_in podosome PubMed 
located_in postsynapse  
is_active_in postsynapse  
located_in trans-Golgi network PubMed 
Items 1 - 20 of 40

General protein information

Preferred Names
filamin-A
Names
actin-binding protein 280
dilated pupils 2
endothelial actin-binding protein
non-muscle 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.

mRNA and Protein(s)

  1. NM_001290421.1NP_001277350.1  filamin-A isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL807376
    UniProtKB/TrEMBL
    Q6KAM8
    Conserved Domains (1) summary
    smart00557
    Location:13881477
    IG_FLMN; Filamin-type immunoglobulin domains
  2. NM_001404064.1NP_001390993.1  filamin-A isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL807376
    UniProtKB/Swiss-Prot
    B7FAV0, O54934, Q7TQI1, Q8BLK1, Q8BTM8, Q8BTN7, Q8VHX5, Q8VHX8, Q99KQ2
    UniProtKB/TrEMBL
    B9EKP5
    Related
    ENSMUSP00000033699.7, ENSMUST00000033699.13
  3. NM_010227.3NP_034357.2  filamin-A isoform 1

    See identical proteins and their annotated locations for NP_034357.2

    Status: VALIDATED

    Source sequence(s)
    AL807376
    Consensus CDS
    CCDS41018.1
    UniProtKB/TrEMBL
    B7FAU9, B9EKP5
    Related
    ENSMUSP00000098997.3, ENSMUST00000101454.9
    Conserved Domains (2) summary
    smart00557
    Location:20392128
    IG_FLMN; Filamin-type immunoglobulin domains
    COG5069
    Location:41267
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]

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_000086.8 Reference GRCm39 C57BL/6J

    Range
    73267067..73293787 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036161857.1XP_036017750.1  filamin-A isoform X1

    UniProtKB/Swiss-Prot
    B7FAV0, O54934, Q7TQI1, Q8BLK1, Q8BTM8, Q8BTN7, Q8VHX5, Q8VHX8, Q99KQ2
    UniProtKB/TrEMBL
    B9EKP5
    Conserved Domains (3) summary
    smart00557
    Location:20472136
    IG_FLMN; Filamin-type immunoglobulin domains
    cd21308
    Location:25153
    CH_FLNA_rpt1; first calponin homology (CH) domain found in filamin-A (FLN-A) and similar proteins
    cd21312
    Location:156269
    CH_FLNA_rpt2; second calponin homology (CH) domain found in filamin-A (FLN-A) and similar proteins
  2. XM_011247549.4XP_011245851.1  filamin-A isoform X2

    See identical proteins and their annotated locations for XP_011245851.1

    UniProtKB/TrEMBL
    B7FAU9, B9EKP5
    Related
    ENSMUSP00000109938.2, ENSMUST00000114299.8
    Conserved Domains (2) summary
    smart00557
    Location:20392128
    IG_FLMN; Filamin-type immunoglobulin domains
    COG5069
    Location:41267
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
  3. XM_017318433.2XP_017173922.1  filamin-A isoform X3

    UniProtKB/TrEMBL
    Q6KAM8
    Conserved Domains (1) summary
    smart00557
    Location:13881477
    IG_FLMN; Filamin-type immunoglobulin domains
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