PLEC (Plectin)
A giant cytoskeletal crosslinker protein essential for tissue integrity and cell adhesion
Gene Information Card
| Symbol | PLEC |
|---|---|
| Full Name | Plectin |
| Gene Type | Protein coding |
| Chromosomal Location | 8q24.3 |
| NCBI Gene ID | 5339 ncbi.nlm.nih.gov/gene/5339 |
| Ensembl ID | ENSG00000178209 |
| UniProt ID | Q15149 |
| OMIM ID | 601282 |
| HGNC ID | 9069 |
| Aliases | PLTN, EBS1, EBSMD, EBSO, EBSND, PCN, PLEC1 |
Description
PLEC encodes plectin, a large (~500 kDa) cytoskeletal linker protein that crosslinks intermediate filaments to microtubules, actin filaments, and membrane adhesion complexes. It is critical for maintaining mechanical integrity in skin, muscle, and other tissues. Mutations cause various forms of epidermolysis bullosa simplex and muscular dystrophy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epidermolysis bullosa simplex with muscular dystrophy | Loss-of-function mutations in PLEC disrupt plectin-mediated cytoskeletal anchorage, leading to skin fragility and muscle weakness. | ClinVar, OMIM |
| Epidermolysis bullosa simplex with pyloric atresia | Severe PLEC mutations impair hemidesmosome integrity, causing skin blistering and gastrointestinal obstruction. | ClinVar, OMIM |
| Epidermolysis bullosa simplex, Ogna type | Specific missense mutations (e.g., p.Glu2000Lys) alter plectin function, resulting in localized blistering. | OMIM |
| Limb-girdle muscular dystrophy type 2Q | Recessive PLEC mutations cause progressive proximal muscle weakness due to defective sarcolemma-cytoskeleton linkage. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 42.3 | High |
| Skeletal muscle | 38.1 | High |
| Heart | 35.7 | High |
| Lung | 18.2 | Medium |
| Kidney | 15.6 | Medium |
| Liver | 8.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A-431 (epidermoid carcinoma) | 48.2 | High expression |
| U-2 OS (osteosarcoma) | 36.5 | High expression |
| Hep G2 (hepatocellular carcinoma) | 12.1 | Medium expression |
| K-562 (lymphoblast) | 5.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.5998C>T (p.Arg2000Trp) | Missense | Rare | Alters plectin binding to intermediate filaments; associated with EBS-Ogna |
| c.1342C>T (p.Arg448*) | Nonsense | Rare | Premature stop; loss of function; causes EBS-MD |
| c.1A>G (p.Met1?) | Start loss | Rare | No protein production; severe EBS with pyloric atresia |
| c.6322delC (p.Leu2108Serfs*13) | Frameshift | Rare | Truncated protein; limb-girdle muscular dystrophy 2Q |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss mutations that abolish plectin expression or function, leading to recessive EBS with muscular dystrophy or pyloric atresia.
Gain of Function (GOF)
Not reported for PLEC.
Dominant Negative (DN)
Missense mutations (e.g., p.Arg2000Trp) that produce a defective plectin interfering with wild-type function, causing dominant EBS-Ogna.
View complete mutation data：
Gene Ontology (GO)
Pathways
• R-HSA-446353 (Cell-extracellular matrix interactions)
• R-HSA-1474244 (Extracellular matrix organization)
• R-HSA-157858 (Gap junction trafficking)
• R-HSA-6809371 (Formation of the cornified envelope)
Protein Summary
Plectin is a giant multifunctional cytolinker protein that connects intermediate filaments to other cytoskeletal components and membrane adhesion complexes. It contains an N-terminal actin-binding domain, a central coiled-coil rod domain, and a C-terminal intermediate filament-binding domain. Plectin is essential for maintaining tissue integrity under mechanical stress, particularly in skin and muscle. Alternative splicing generates multiple isoforms with tissue-specific functions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLEC Knockout HEK293 Cell Line | EDJ-KQ1931 | Human | 5339 | Details Get a Quote |
| PLEC Knockout HeLa Cell Line | EDJ-KQ20563 | Human | 5339 | Details Get a Quote |
| PLEC Knockout A-549 Cell Line | EDJ-KQ21858 | Human | 5339 | Details Get a Quote |
| PLEC Knockout HCT 116 Cell Line | EDJ-KQ21859 | Human | 5339 | Details Get a Quote |
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