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

Gene ID: 192176, updated on 26-Mar-2023

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 circulatory system development; regulation of ion transmembrane transport; 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; axonal growth cone; 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 recessive disease (multiple); 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, Apr 2022]
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
109 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 emerin Neighboring gene eukaryotic translation initiation factor 1 pseudogene 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)
  • Gene trapped (1) 
  • Targeted (3)  1 citation
  • Chemically induced (ENU) (1)  1 citation
  • Endonuclease-mediated (2) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables DNA-binding transcription factor binding ISO
Inferred from Sequence Orthology
more info
 
enables Fc-gamma receptor I complex binding ISO
Inferred from Sequence Orthology
more info
 
enables G protein-coupled receptor binding ISO
Inferred from Sequence Orthology
more info
 
enables GTPase binding ISO
Inferred from Sequence Orthology
more info
 
enables SMAD binding ISO
Inferred from Sequence Orthology
more info
 
enables actin binding TAS
Traceable Author Statement
more info
PubMed 
enables actin filament binding ISO
Inferred from Sequence Orthology
more info
 
enables kinase binding ISO
Inferred from Sequence Orthology
more info
 
enables mu-type opioid receptor binding ISO
Inferred from Sequence Orthology
more info
 
enables potassium channel regulator activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables potassium channel regulator activity ISO
Inferred from Sequence Orthology
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein homodimerization activity ISO
Inferred from Sequence Orthology
more info
 
enables protein kinase C binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein-containing complex binding ISO
Inferred from Sequence Orthology
more info
 
enables small GTPase binding ISO
Inferred from Sequence Orthology
more info
 
enables transmembrane transporter binding ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
involved_in actin crosslink formation ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within actin cytoskeleton organization IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in actin cytoskeleton reorganization ISO
Inferred from Sequence Orthology
more info
 
involved_in adenylate cyclase-inhibiting dopamine receptor signaling pathway ISO
Inferred from Sequence Orthology
more info
 
involved_in angiogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in blood coagulation, intrinsic pathway NAS
Non-traceable Author Statement
more info
PubMed 
involved_in blood vessel remodeling IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within cell projection organization IEA
Inferred from Electronic Annotation
more info
 
involved_in cell-cell junction organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cilium assembly ISO
Inferred from Sequence Orthology
more info
 
involved_in cytoplasmic sequestering of protein ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within early endosome to late endosome transport IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within epithelial to mesenchymal transition IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in establishment of Sertoli cell barrier ISO
Inferred from Sequence Orthology
more info
 
involved_in establishment of protein localization ISO
Inferred from Sequence Orthology
more info
 
involved_in formation of radial glial scaffolds ISO
Inferred from Sequence Orthology
more info
 
involved_in heart morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in mRNA transcription by RNA polymerase II ISO
Inferred from Sequence Orthology
more info
 
involved_in megakaryocyte development NAS
Non-traceable Author Statement
more info
PubMed 
acts_upstream_of_or_within mitotic spindle assembly ISO
Inferred from Sequence Orthology
more info
PubMed 
involved_in negative regulation of DNA-binding transcription factor activity ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of apoptotic process ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of neuron projection development IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in negative regulation of protein catabolic process ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of transcription by RNA polymerase I ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of actin filament bundle assembly ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of axon regeneration IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of integrin-mediated signaling pathway ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of neural precursor cell proliferation ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of neuron migration ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of platelet activation NAS
Non-traceable Author Statement
more info
PubMed 
involved_in positive regulation of potassium ion transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of potassium ion transmembrane transport ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of protein import into nucleus ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of substrate adhesion-dependent cell spreading ISO
Inferred from Sequence Orthology
more info
 
involved_in protein localization to bicellular tight junction ISO
Inferred from Sequence Orthology
more info
 
involved_in protein localization to cell surface ISO
Inferred from Sequence Orthology
more info
 
involved_in protein localization to plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein localization to plasma membrane ISO
Inferred from Sequence Orthology
more info
 
involved_in protein stabilization ISO
Inferred from Sequence Orthology
more info
 
involved_in receptor clustering ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of actin filament bundle assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of cell migration ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of membrane repolarization during atrial cardiac muscle cell action potential IC
Inferred by Curator
more info
PubMed 
involved_in regulation of membrane repolarization during cardiac muscle cell action potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in release of sequestered calcium ion into cytosol NAS
Non-traceable Author Statement
more info
PubMed 
involved_in semaphorin-plexin signaling pathway IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in semaphorin-plexin signaling pathway IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in semaphorin-plexin signaling pathway ISO
Inferred from Sequence Orthology
more info
 
involved_in synapse organization IDA
Inferred from Direct Assay
more info
PubMed 
involved_in synapse organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in tubulin deacetylation ISO
Inferred from Sequence Orthology
more info
 
involved_in wound healing, spreading of cells ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
part_of Myb complex ISO
Inferred from Sequence Orthology
more info
PubMed 
located_in Z disc IDA
Inferred from Direct Assay
more info
PubMed 
located_in actin cytoskeleton IDA
Inferred from Direct Assay
more info
PubMed 
located_in actin cytoskeleton ISO
Inferred from Sequence Orthology
more info
 
colocalizes_with actin filament ISO
Inferred from Sequence Orthology
more info
 
located_in actin filament ISO
Inferred from Sequence Orthology
more info
 
located_in actin filament bundle IDA
Inferred from Direct Assay
more info
PubMed 
located_in apical dendrite ISO
Inferred from Sequence Orthology
more info
 
located_in axonal growth cone IDA
Inferred from Direct Assay
more info
PubMed 
located_in brush border IDA
Inferred from Direct Assay
more info
PubMed 
located_in cell cortex ISO
Inferred from Sequence Orthology
more info
 
located_in cell projection IEA
Inferred from Electronic Annotation
more info
 
located_in cell-cell junction ISO
Inferred from Sequence Orthology
more info
 
located_in cortical cytoskeleton ISO
Inferred from Sequence Orthology
more info
 
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 dendritic shaft ISO
Inferred from Sequence Orthology
more info
 
is_active_in glutamatergic synapse ISO
Inferred from Sequence Orthology
more info
 
part_of glycoprotein Ib-IX-V complex NAS
Non-traceable Author Statement
more info
PubMed 
located_in growth cone IDA
Inferred from Direct Assay
more info
PubMed 
located_in neuronal cell body ISO
Inferred from Sequence Orthology
more info
 
located_in nucleolus ISO
Inferred from Sequence Orthology
more info
 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
 
located_in perinuclear region of cytoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in plasma membrane ISO
Inferred from Sequence Orthology
more info
 
is_active_in postsynapse ISO
Inferred from Sequence Orthology
more info
 
located_in trans-Golgi network IDA
Inferred from Direct Assay
more info
PubMed 

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
    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
    Q99KQ2
  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
    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: Mus musculus Annotation Release 109 details...Open this link in a new tab

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
    Q99KQ2
    Related
    ENSMUSP00000033699.7, ENSMUST00000033699.13
    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
    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_006527911.5XP_006527974.1  filamin-A isoform X1

    UniProtKB/Swiss-Prot
    Q8BTM8
    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
  4. XM_017318433.2XP_017173922.1  filamin-A isoform X3

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