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

Gene Tree: Flna

Human homologs

Human Homolog		FLNA, filamin A, alpha
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:153576900-153603006 (-)  GRCh37.p10
Disease Associations		(10) Diseases Associated with Human FLNA

Alleles and phenotypes

All alleles(21) : Targeted(4) Gene trapped(16) Chemically induced(1)
 

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 Using Mouse Flna (4)    Alleles Annotated to Human Diseases(1)    Phenotype Images(1)

Gene Ontology (GO) classifications

All GO classifications: (57 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: (14 records)
Data Summary: Results (15)    Tissues (13)    Images (3)
Theiler Stages: 17, 20, 22, 28

Assay Type	Results
RNA in situ	12
Western blot	3

cDNA source data(532)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(544) Genomic(7) cDNA(536) 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.101404625, DT.537024
NIA Mouse Gene Index	U039468, U127308
Consensus CDS Project	CCDS41018.1
International Mouse Knockout Project Status	Flna

Sequences

Length	Strain/Species
genomic	OTTMUSG00000016503	VEGA Gene Model | MGI Sequence Detail	26360	C57BL/6J
transcript	OTTMUST00000039863	VEGA | MGI Sequence Detail	8312	Not Applicable
polypeptide	OTTMUSP00000017782	VEGA | MGI Sequence Detail	2647	Not Applicable

All sequences(89) RefSeq(2) UniProt(12)

Polymorphisms

SNPs(61 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:187673 Zhang J, et al., Brefeldin A-inhibited Guanine Exchange Factor 2 Regulates Filamin A Phosphorylation and Neuronal Migration. J Neurosci. 2012 Sep 5;32(36):12619-29
All references(77)

Other accession IDs

MGD-MRK-9829, MGI:1934608, MGI:2444346