InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: FLNC

Summary

InnateDB Protein

IDBP-40120.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

FLNC

Protein Name

filamin C, gamma

Synonyms

ABP-280; ABP280A; ABPA; ABPL; FLN2; MFM5; MPD4;

Species

Homo sapiens

Ensembl Protein

ENSP00000344002

InnateDB Gene

IDBG-40116 (FLNC)

Protein Structure

UniProt Annotation

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.

Subcellular Localization

Cytoplasm {ECO:0000269PubMed:11038172}. Membrane {ECO:0000269PubMed:11038172}; Peripheral membrane protein {ECO:0000269PubMed:11038172}. Cytoplasm, cytoskeleton {ECO:0000269PubMed:11038172}. Cytoplasm, myofibril, sarcomere, Z line {ECO:0000269PubMed:11038172}. 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. Targeting to developing and mature Z lines is mediated by the intradomain insert.

Disease Associations

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. {ECO:0000269PubMed:15929027}. 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. {ECO:0000269PubMed:21620354}. Note=The disease is caused by mutations affecting the gene represented in this entry.

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. {ECO:0000269PubMed:11038172, ECO:0000269PubMed:7689010, ECO:0000269PubMed:9791010}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 81 experimentally validated interaction(s) in this database.
They are also associated with 7 interaction(s) predicted by orthology.