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Flna
Gene Detail
Symbol

Name
ID
Flna
filamin, alpha
MGI:95556
Synonyms
ABP-280, actin-binding protein 280, Dilp2, F730004A14Rik, filamin-1, Fln1, GENA 379
Feature Type
protein coding gene
Genetic Map
Chromosome X
37.89 cM
Detailed Genetic Map ± 1 cM


Mapping data(12)
Sequence Map
ChrX:74223461-74249820 bp, - strand
From VEGA annotation of GRCm38

  26360 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:1119  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken

HCOP human homology predictions: FLNA
Gene Tree: Flna

Human
homologs
FLNA, filamin A, alpha
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 2316
neXtProt AC: NX_P21333

Human Synonyms: ABP-280, ABPX, CSBS, CVD1, FLN, FLN1, FLN-A, FMD, MNS, NHBP, OPD, OPD1, OPD2, XLVD, XMVD

Human Chr (Location): Xq28; chrX:154348529-154374638 (-)  GRCh38.p2

Disease Associations: (10) Diseases Associated with Human FLNA

Mutations,
alleles, and
phenotypes
All mutations/alleles(21) : Chemically induced (ENU)(1) Gene trapped(16) Targeted(4)
Incidental mutations (data from APF )
 
Females heterozygous for an X-linked, ENU-induced mutation exhibit dilated pupils and milder cardiac, sternum, and palate defects than males. Hemizygous males are inviable and exhibit incomplete septation of the outflow tract, septal defects, cleft palate and incomplete fusion of the sternum.
 
Human Diseases Modeled in Mice Using Flna (4)    Mutations Annotated to Human Diseases (1)    Phenotype Images(1)
Interactions
Flna interacts with 498 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (71 annotations)
Process actin crosslink formation, actin cytoskeleton organization, ...
Component actin cytoskeleton, actin filament, ...
Function actin binding, actin filament binding, ...
External Resources: FuncBase
Expression
Literature Summary: (18 records)
Data Summary: Results (15)    Tissues (13)    Images (3)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 12
Western blot 3
cDNA source data(533)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase flna    NEW 
Molecular
reagents
All nucleic(545) Genomic(7) cDNA(537) Primer pair(1)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000016503 (Evidence)
Ensembl Gene Model ENSMUSG00000031328 (Evidence)
Entrez Gene 192176 (Evidence)
UniGene 295533
DFCI TC1635032, TC1671621, TC1675382
DoTS DT.537024, DT.101404625
NIA Mouse Gene Index U039468, U127308
Consensus CDS Project CCDS41018.1
International Mouse Phenotyping Consortium Status Flna
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000016503 VEGA Gene Model | MGI Sequence Detail 26360 C57BL/6J ±  kb
transcript OTTMUST00000039863 VEGA | MGI Sequence Detail 8312 Not Applicable 
polypeptide OTTMUSP00000017782 VEGA | MGI Sequence Detail 2647 Not Applicable 

For the selected sequences
All sequences(95) RefSeq(8) UniProt(12)
Polymorphisms
SNPs within 2kb(87 from dbSNP Build 137)    SNPs within 2kb including multiple locations(117)
Protein-related
information
ResourceIDDescription
InterPro IPR001589 Actinin-type, actin-binding, conserved site
InterPro IPR001715 Calponin homology domain
InterPro IPR001298 Filamin/ABP280 repeat
InterPro IPR017868 Filamin/ABP280 repeat-like
InterPro IPR014756 Immunoglobulin E-set
InterPro IPR013783 Immunoglobulin-like fold
Protein Ontology PR:000007555 filamin-A
References
(Earliest) J:18473 Gariboldi M, et al., Comparative mapping of the actin-binding protein 280 genes in human and mouse. Genomics. 1994 May 15;21(2):428-30
(Latest) J:213829 Bard-Chapeau EA, et al., Mice carrying a hypomorphic Evi1 allele are embryonic viable but exhibit severe congenital heart defects. PLoS One. 2014;9(2):e89397
All references(88)
Disease annotation references (1)
Other
accession IDs
MGD-MRK-9829, MGI:1934608, MGI:2444346

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/21/2015
MGI 5.22
The Jackson Laboratory