FLNC_HUMAN
Source:
PM19886704
PM23856902
Marked as 'Membrane associated protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
FLNC
, ABPL, FLN2
Protein names and data:
FLNC_HUMAN
, Filamin-C; FLN-C; FLNc
, ABP-280-like protein; ABP-L; Actin-binding-like protein; Filamin-2; Gamma-filamin
Lenght: 2725 a.a.
Mass: 291022 Da
fasta formatted sequence
Function:
Muscle-specific filamin, which plays a central role in muscle cells, probably by functioning as a large actin-cross- linking protein. May be involved in reorganizing the actin cytoskeleton in response to signaling events, and may also display structural functions at the Z lines in muscle cells. Critical for normal myogenesis and for maintaining the structural integrity of the muscle fibers.
Disease:
( OMIM:
102565
609524
614065
)
Myopathy, myofibrillar, 5 (MFM5) [MIM:609524]: A neuromuscular disorder, usually with an adult onset, characterized by focal myofibrillar destruction, pathological cytoplasmic protein aggregations, and clinical features of a limb-girdle myopathy. Note=The disease is caused by mutations affecting the gene represented in this entry. Myopathy, distal, 4 (MPD4) [MIM:614065]: A slowly progressive muscular disorder characterized by distal muscle weakness and atrophy affecting the upper and lower limbs. Onset occurs around the third to fourth decades of life, and patients remain ambulatory even after long disease duration. Muscle biopsy shows non-specific changes with no evidence of rods, necrosis, or inflammation. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Cytoplasm. Membrane; Peripheral membrane protein. Cytoplasm, cytoskeleton. Cytoplasm, myofibril, sarcomere, Z line. Note=A small amount localizes at membranes. In striated muscle cells, it predominantly localizes in myofibrillar Z lines, while a minor fraction localizes with subsarcolemme.
Tissue specificity:
Highly expressed in striated muscles. Weakly expressed in thyroid, fetal brain, fetal lung, retina, spinal cord and bone marrow. Not expressed in testis, pancreas, adrenal gland, placenta, liver and kidney.
Genetic variants
193 - 193
A -> T (in MPD4; results in slightly decreased thermal stability and increased actin-binding activity; results in significantly decreased nuclear localization with formation of intracellular protein aggregates). VAR_066212
251 - 251
M -> T (in MPD4; results in slightly decreased thermal stability and increased actin-binding activity; results in the formation of intracellular protein aggregates). VAR_066213
1567 - 1567
R -> Q (in dbSNP:rs2291569). VAR_015705
2291569
1580 - 1580
D -> G (in dbSNP:rs2643766). VAR_015706
2643766
1599 - 1599
T -> A (in dbSNP:rs2643767). VAR_015707
2643767
2135 - 2135
K -> R (in dbSNP:rs1063261). VAR_015708
1063261
2203 - 2203
R -> P (in dbSNP:rs1063262). VAR_015709
1063262
2626 - 2626
S -> N (in dbSNP:rs2639142). VAR_015710
2639142
2637 - 2637
K -> Q (in dbSNP:rs2291572). VAR_015711
2291572
Database cross-references
UniProt:
Q14315
Ensembl:
ENST00000325888
Ensembl:
ENST00000346177
MIM:
102565
MIM:
609524
MIM:
614065
neXtProt:
NX_Q14315
Antibodypedia:
Q14315
(may not find the protein thus also not any antibody)
Local full text data:
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