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Gene: FLNA (filamin A) Homo sapiens
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Symbol: FLNA
Name: filamin A
Description: The protein encoded by this gene is an actin-binding protein that crosslinks actin filaments and links actin filaments to membrane glycoproteins. The encoded protein is involved in remodeling the cytoskeleton to effect changes in cell shape and migration. This protein interacts with integrins, transmembrane receptor complexes, and second messengers. Defects in this gene are a cause of several syndromes, including periventricular nodular heterotopias (PVNH1, PVNH4), otopalatodigital syndromes (OPD1, OPD2), frontometaphyseal dysplasia (FMD), Melnick-Needles syndrome (MNS), and X-linked congenital idiopathic intestinal pseudoobstruction (CIIPX). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ABP-280; ABPX; actin binding protein 280; alpha filamin; alpha-filamin; CSBS; CVD1; DKFZp434P031; endothelial actin-binding protein; FG syndrome 2; FGS2; filamin 1; filamin A, alpha; filamin-1; filamin-A; FLJ43642; FLN; FLN-A; FLN1; FMD; MNS; NHBP; non-muscle filamin; OPD; OPD1; OPD2; XLVD; XMVD
Orthologs:
Mus musculus (house mouse) : Flna (filamin, alpha)  MGI  Alliance
Rattus norvegicus (Norway rat) : Flna (filamin A)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Flna (filamin A)
Pan paniscus (bonobo/pygmy chimpanzee) : FLNA (filamin A)
Canis lupus familiaris (dog) : FLNA (filamin A)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Flna (filamin A)
Sus scrofa (pig) : FLNA (filamin A)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X154,348,532 - 154,374,638 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X153,576,900 - 153,603,006 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X153,230,091 - 153,252,845 (-)NCBINCBI36hg18NCBI36
Build 34X153,097,811 - 153,123,776NCBI
CeleraX153,737,962 - 153,764,068 (-)NCBI
Cytogenetic MapXq28NCBI
HuRefX142,154,186 - 142,180,218 (-)NCBIHuRef
CHM1_1X153,488,516 - 153,514,622 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated