FLNA
Sign in to saveAlso known as ABP-280, ABPX, CSBS, CVD1, FLN, FLN-A, FLN1, FMD
Filamin A, alpha (FLNA) is a protein that in humans is encoded by the FLNA gene.
Gene data
FLNA- Name
- filamin A
- Type
- protein-coding
- Chromosome
- X
- Position
- 154,348,524–154,374,638 (−)
- Aliases
- ABP-280, ABPX, CSBS, CVD1, FGS2, FLN, FLN-A, FLN1, FMD, MNS
- Ensembl
- ENSG00000196924
- RefSeq RNA
- NM_001110556.2, NM_001456.4
- RefSeq protein
- NP_001104026.1, NP_001447.2
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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
filamin A
- Symbol
- FLNA
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- Chr X:154,348,524-154,374,643
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Image
- Protein FLNA PDB 2aav.png
Show 5 more facts
- HomoloGene ID
- 1119
- exact match
- identifiers.org/ncbigene/2316
- genomic start
- 153576892
- genomic end
- 154374634
- cytogenetic location
- Xq28
via Wikidata · CC0
~1 min read
Article
6 sectionsContents
- Structure
- Function
- DNA repair
- Interactions
- References
- Further reading
Filamin A, alpha (FLNA) is a protein that in humans is encoded by the FLNA gene.
== Structure == The structure of filamin A, alpha includes an actin binding N terminal domain, 24 internal repeats and 2 hinge regions.