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

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, Nov 2024]
Expression: Broad expression in bladder adult (RPKM 809.2), ovary adult (RPKM 279.4) and 17 other tissues See more
Orthologs: human all
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Genomic context

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_000086.8 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: 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?

Reducing Filamin A Restores Cortical Synaptic Connectivity and Early Social Communication Following Cellular Mosaicism in Autism Spectrum Disorder Pathways.
Title: Reducing Filamin A Restores Cortical Synaptic Connectivity and Early Social Communication Following Cellular Mosaicism in Autism Spectrum Disorder Pathways.
FLNA regulates neuronal maturation by modulating RAC1-Cofilin activity in the developing cortex.
Title: FLNA regulates neuronal maturation by modulating RAC1-Cofilin activity in the developing cortex.
GPIbalpha-filamin A interaction regulates megakaryocyte localization and budding during platelet biogenesis.
Title: GPIbα-filamin A interaction regulates megakaryocyte localization and budding during platelet biogenesis.
Importance of the filamin A-Sav1 interaction in organ size control: evidence from transgenic mice.
Title: Importance of the filamin A-Sav1 interaction in organ size control: evidence from transgenic mice.
Mutation of FLNA attenuating the migration of abdominal muscles contributed to Melnick-Needles syndrome (MNS) in a family with recurrent miscarriage.
Title: Mutation of FLNA attenuating the migration of abdominal muscles contributed to Melnick-Needles syndrome (MNS) in a family with recurrent miscarriage.
Filamin A is overexpressed in non-alcoholic steatohepatitis and contributes to the progression of inflammation and fibrosis.
Title: Filamin A is overexpressed in non-alcoholic steatohepatitis and contributes to the progression of inflammation and fibrosis.
Deficiency of filamin A in smooth muscle cells protects against hypoxiamediated pulmonary hypertension in mice.
Title: Deficiency of filamin A in smooth muscle cells protects against hypoxia‑mediated pulmonary hypertension in mice.
Direct and Indirect Effects of Filamin A on Tau Pathology in Neuronal Cells.
Title: Direct and Indirect Effects of Filamin A on Tau Pathology in Neuronal Cells.
Filamin A regulates caspase-3 cleavage in platelets in a protein kinase C (PKC)-dependent manner.
Title: Filamin A regulates caspase-3 cleavage in platelets in a protein kinase C (PKC)-dependent manner.
A gain-of-function filamin A mutation in mouse platelets induces thrombus instability.
Title: A gain-of-function filamin A mutation in mouse platelets induces thrombus instability.

Submit: New GeneRIF Correction See all GeneRIFs (61)

Variation

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

ECD00293 (e-PCR)
- UniSTS:281406

Flna (e-PCR), detects polymorphism
- UniSTS:468834

REN89262 (e-PCR)
- UniSTS:414060

REN89263 (e-PCR)
- UniSTS:414061

REN89289 (e-PCR)
- UniSTS:414087

REN89318 (e-PCR)
- UniSTS:414116

REN89319 (e-PCR)
- UniSTS:414117

REN89349 (e-PCR)
- UniSTS:414147

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA-binding transcription factor binding	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription factor binding	ISS Inferred from Sequence or Structural Similarity more info
enables Fc-gamma receptor I complex binding	ISO Inferred from Sequence Orthology more info
enables Fc-gamma receptor I complex binding	ISS Inferred from Sequence or Structural Similarity more info
enables G protein-coupled receptor binding	IEA Inferred from Electronic Annotation 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	IEA Inferred from Electronic Annotation 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 actin filament binding	ISS Inferred from Sequence or Structural Similarity more info
enables kinase 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	IEA Inferred from Electronic Annotation more info
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 small GTPase binding	ISS Inferred from Sequence or Structural Similarity more info
enables transmembrane transporter binding	IEA Inferred from Electronic Annotation 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
involved_in actin crosslink formation	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within actin cytoskeleton organization	IGI Inferred from Genetic Interaction more info	PubMed
involved_in actin cytoskeleton organization	ISO Inferred from Sequence Orthology more info
involved_in actin cytoskeleton organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in adenylate cyclase-inhibiting dopamine receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in adenylate cyclase-inhibiting dopamine receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity 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
involved_in cell-cell junction organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cerebral cortex development	IEA Inferred from Electronic Annotation more info
involved_in cilium assembly	IEA Inferred from Electronic Annotation more info
involved_in cilium assembly	ISO Inferred from Sequence Orthology more info
involved_in cytoplasmic sequestering of protein	ISO Inferred from Sequence Orthology more info
involved_in cytoplasmic sequestering of protein	ISS Inferred from Sequence or Structural Similarity 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	IEA Inferred from Electronic Annotation more info
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 establishment of protein localization	ISS Inferred from Sequence or Structural Similarity more info
involved_in formation of radial glial scaffolds	IEA Inferred from Electronic Annotation 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	IEA Inferred from Electronic Annotation more info
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 DNA-binding transcription factor activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of apoptotic process	IEA Inferred from Electronic Annotation 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 protein catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of transcription by RNA polymerase I	IEA Inferred from Electronic Annotation 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	IEA Inferred from Electronic Annotation 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 canonical NF-kappaB signal transduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of integrin-mediated signaling pathway	IEA Inferred from Electronic Annotation more info
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	IEA Inferred from Electronic Annotation 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	IEA Inferred from Electronic Annotation 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 protein import into nucleus	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of substrate adhesion-dependent cell spreading	IEA Inferred from Electronic Annotation 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	IEA Inferred from Electronic Annotation 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 cell surface	ISS Inferred from Sequence or Structural Similarity 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 protein stabilization	ISS Inferred from Sequence or Structural Similarity more info
involved_in receptor clustering	ISO Inferred from Sequence Orthology more info
involved_in receptor clustering	ISS Inferred from Sequence or Structural Similarity 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 cell migration	ISS Inferred from Sequence or Structural Similarity 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
involved_in wound healing, spreading of cells	ISS Inferred from Sequence or Structural Similarity 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
located_in actin filament	IEA Inferred from Electronic Annotation 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	IEA Inferred from Electronic Annotation more info
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-cell junction	ISO Inferred from Sequence Orthology more info
located_in cell-cell junction	ISS Inferred from Sequence or Structural Similarity more info
located_in cortical cytoskeleton	IEA Inferred from Electronic Annotation 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 cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in dendritic shaft	IEA Inferred from Electronic Annotation more info
located_in dendritic shaft	ISO Inferred from Sequence Orthology more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation 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	IEA Inferred from Electronic Annotation more info
located_in nucleolus	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
located_in perikaryon	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation 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
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in podosome	IDA Inferred from Direct Assay more info	PubMed
located_in postsynapse	IEA Inferred from Electronic Annotation 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

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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)

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

Status: VALIDATED

Source sequence(s)

AL807376

UniProtKB/TrEMBL

Q6KAM8

Conserved Domains (1) summary

smart00557
Location:1388 → 1477

IG_FLMN; Filamin-type immunoglobulin domains
NM_001404064.1 → NP_001390993.1 filamin-A isoform 3

Status: VALIDATED

Source sequence(s)

AL807376

UniProtKB/Swiss-Prot

B7FAV0, O54934, Q7TQI1, Q8BLK1, Q8BTM8, Q8BTN7, Q8VHX5, Q8VHX8, Q99KQ2

Related

ENSMUSP00000033699.7, ENSMUST00000033699.13
NM_010227.3 → NP_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:2039 → 2128

IG_FLMN; Filamin-type immunoglobulin domains

COG5069
Location:41 → 267

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

NC_000086.8 Reference GRCm39 C57BL/6J

Range

73267067..73293787 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036161857.1 → XP_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:2047 → 2136

IG_FLMN; Filamin-type immunoglobulin domains

cd21308
Location:25 → 153

CH_FLNA_rpt1; first calponin homology (CH) domain found in filamin-A (FLN-A) and similar proteins

cd21312
Location:156 → 269

CH_FLNA_rpt2; second calponin homology (CH) domain found in filamin-A (FLN-A) and similar proteins
XM_011247549.4 → XP_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:2039 → 2128

IG_FLMN; Filamin-type immunoglobulin domains

COG5069
Location:41 → 267

SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
XM_017318433.2 → XP_017173922.1 filamin-A isoform X3

UniProtKB/TrEMBL

Q6KAM8

Conserved Domains (1) summary

smart00557
Location:1388 → 1477

IG_FLMN; Filamin-type immunoglobulin domains