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FLNA (NM_001110556) - filamin A

Filamin-A Isoform 2

Mutations Visualisation

Protein summary

This is preferred isoform of FLNA protein. View all 2 isoforms
FLNA: filamin-A isoform 2
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].

Strand
-
Chromosome
X
Protein
2647 residues
All mutations
693
PTM sites
248
CDS
153,577,216 - 153,599,613
Transcription
153,576,899 - 153,603,006
7.48% of sequence is predicted to be disordered

External references

Mappings retrieved from NCBI & UniProt.
RefSeq
Entrez
gene: 2316
UniProt
Ensembl