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]
Transcription factors with Perturb-seq knockdown data for FLNA. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = FLNA upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.
| TF | Mean coef | Binding | Outlier | TF→Gene link |
|---|
Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of FLNA, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.
| Accessibility | Element | Dist. to TSS | Link type | TFs |
|---|---|---|---|---|
| chrX:154,097,040–154,098,161 | 273.4 kb | Distal (>10kb) Multiome | 537 | |
| chrX:154,136,648–154,137,146 | 234.3 kb | Distal (>10kb) Multiome | 391 | |
| chrX:154,368,993–154,370,053 | 1.6 kb | Proximal (<10kb) Multiome | 546 | |
| chrX:154,370,757–154,372,188 | 149 bp | At TSS Multiome | 764 | |
| chrX:154,373,378–154,373,810 | 2.2 kb | Proximal (<10kb) | 286 | |
| chrX:154,378,063–154,379,701 | 7.8 kb | Proximal (<10kb) Multiome | 687 | |
| chrX:154,397,430–154,398,941 | 27.0 kb | Distal (>10kb) Multiome | 871 | |
| chrX:154,409,052–154,409,671 | 38.1 kb | Distal (>10kb) Multiome | 396 | |
| chrX:154,428,419–154,428,969 | 57.4 kb | Distal (>10kb) Multiome | 601 | |
| chrX:154,436,501–154,437,435 | 65.7 kb | Distal (>10kb) Multiome | 448 | |
| chrX:154,443,986–154,444,454 | 72.9 kb | Distal (>10kb) Multiome | 329 | |
| chrX:154,457,605–154,458,763 | 86.9 kb | Distal (>10kb) Multiome | 467 | |
| chrX:154,478,385–154,479,590 | 107.9 kb | Distal (>10kb) Multiome | 707 | |
| chrX:154,486,385–154,487,035 | 115.5 kb | Distal (>10kb) Multiome | 437 | |
| chrX:154,490,259–154,491,245 | 119.5 kb | Distal (>10kb) Multiome | 567 | |
| chrX:154,515,811–154,517,059 | 145.1 kb | Distal (>10kb) Multiome | 590 | |
| chrX:154,546,514–154,547,906 | 176.0 kb | Distal (>10kb) Multiome | 691 |
Genomic view of the FLNA locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.