The first FLNC
-related disease was described in 2005 when a nonsense mutation (c.G8130A, p.W2710X) in the FLNC
rod domain was shown to cause skeletal and cardiac myopathy in a large German myofibrillar myopathy (MFM) family. A frameshift mutation in FLNC
leads to haploinsufficiency in three presumably related Bulgarian families, as well as the missense mutations (p.A193T; p.M251T) in the ABD of filamin-C, resulting in increased actin binding affinity in families from Australia and Italy and causing distal myopathies.
This arrangement is similar to the FLNC
or SWAPO in Angola during the 1970s operating with a safety net of support from the Soviet Union and its proxies.
Gene ID (NCBI) Full name (NCBI) FLNC
2318 Filamin C HIST2H2AA3/ 8337/ Histone cluster 2 H2A family member a3/ HIST2H2AC 8338 Histone cluster 2 H2A family member c HP 3240 Haptoglobin RRP8 23378 Ribosomal RNA processing 8, methyltransferase, homolog (yeast) U2SURP 23350 U2 snRNP associated SURP domain containing Gene Protein subgroup Reference FLNC
Exclusive  HIST2H2AA3/ Exclusive  HIST2H2AC HP Overexpressed  RRP8 Exclusive  U2SURP Overexpressed  ID, identification number; NCBI, National Center for Biotechnology Information.
Using 50kb flanking regions in the analysis of EAs, the top-ranked (#1) risk pathway was the 'cell-extracellular matrix interactions' pathway (RSU1, LIMS1, LIMS2, ARHGEF6, FERMT2, ACTN1, BLIM1, FLNC
, ITGB1, PXN, FLNA, VASP, ILK, TESK1, PARVB, and PARVA) (p < 2.0E-4).
There is a highly homologous sequence, which differed from the target gene FLNC
at the highlighted position.
Five reference genes and 12 cancer genes represent pathways in prostate tumorigenesis in OncofypeDX Prostate Cancer Assay, which includes AZGP1, KLK2, SRD5A2, FAM13C, FLNC
, GSN, TPM2, GSTM2, TPX2, BGN, COL1A1, and SFRP4.
19 June 2014 - Results from a study, led by Japanese researchers and published in the journal BMC Cancer, have indicated that serum anti-filamin C (FLNC
) autoantibody is a potential serum biomarker for early diagnosis of low-grade glioma, the most common primary malignant central nervous system tumour in adults.