Plectin is a prominent member of an important family of structurally and in part functionally related proteins, termed plakins or cytolinkers, that are capable of interlinking different elements of the cytoskeleton. Plakins, with their multi-domain structure and enormous size, not only play crucial roles in maintaining cell and tissue integrity and orchestrating dynamic changes... See more...

Aliases for PLEC Gene

Aliases for PLEC Gene

  • Plectin 2 3 4 5
  • Plectin 1, Intermediate Filament Binding Protein 500kDa 2 3
  • Hemidesmosomal Protein 1 3 4
  • PLEC1 3 4
  • PLTN 3 4
  • HD1 3 4
  • PCN 3 4
  • Plectin 1, Intermediate Filament Binding Protein, 500kD 2
  • Epidermolysis Bullosa Simplex 1 (Ogna) 2
  • Plectin-1 4
  • LGMDR17 3
  • LGMD2Q 3
  • PLEC1b 3
  • EBSMD 3
  • EBSND 3
  • EBSOG 3
  • EBSPA 3
  • EBSO 3
  • EBS1 3

External Ids for PLEC Gene

Previous HGNC Symbols for PLEC Gene

  • EBS1
  • PLEC1

Previous GeneCards Identifiers for PLEC Gene

  • GC08M144989
  • GC08M140243

Summaries for PLEC Gene

Entrez Gene Summary for PLEC Gene

  • Plectin is a prominent member of an important family of structurally and in part functionally related proteins, termed plakins or cytolinkers, that are capable of interlinking different elements of the cytoskeleton. Plakins, with their multi-domain structure and enormous size, not only play crucial roles in maintaining cell and tissue integrity and orchestrating dynamic changes in cytoarchitecture and cell shape, but also serve as scaffolding platforms for the assembly, positioning, and regulation of signaling complexes (reviewed in PMID: 9701547, 11854008, and 17499243). Plectin is expressed as several protein isoforms in a wide range of cell types and tissues from a single gene located on chromosome 8 in humans (PMID: 8633055, 8698233). Until 2010, this locus was named plectin 1 (symbol PLEC1 in human; Plec1 in mouse and rat) and the gene product had been referred to as "hemidesmosomal protein 1" or "plectin 1, intermediate filament binding 500kDa". These names were superseded by plectin. The plectin gene locus in mouse on chromosome 15 has been analyzed in detail (PMID: 10556294, 14559777), revealing a genomic exon-intron organization with well over 40 exons spanning over 62 kb and an unusual 5' transcript complexity of plectin isoforms. Eleven exons (1-1j) have been identified that alternatively splice directly into a common exon 2 which is the first exon to encode plectin's highly conserved actin binding domain (ABD). Three additional exons (-1, 0a, and 0) splice into an alternative first coding exon (1c), and two additional exons (2alpha and 3alpha) are optionally spliced within the exons encoding the acting binding domain (exons 2-8). Analysis of the human locus has identified eight of the eleven alternative 5' exons found in mouse and rat (PMID: 14672974); exons 1i, 1j and 1h have not been confirmed in human. Furthermore, isoforms lacking the central rod domain encoded by exon 31 have been detected in mouse (PMID:10556294), rat (PMID: 9177781), and human (PMID: 11441066, 10780662, 20052759). The short alternative amino-terminal sequences encoded by the different first exons direct the targeting of the various isoforms to distinct subcellular locations (PMID: 14559777). As the expression of specific plectin isoforms was found to be dependent on cell type (tissue) and stage of development (PMID: 10556294, 12542521, 17389230) it appears that each cell type (tissue) contains a unique set (proportion and composition) of plectin isoforms, as if custom-made for specific requirements of the particular cells. Concordantly, individual isoforms were found to carry out distinct and specific functions (PMID: 14559777, 12542521, 18541706). In 1996, a number of groups reported that patients suffering from epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) lacked plectin expression in skin and muscle tissues due to defects in the plectin gene (PMID: 8698233, 8941634, 8636409, 8894687, 8696340). Two other subtypes of plectin-related EBS have been described: EBS-pyloric atresia (PA) and EBS-Ogna. For reviews of plectin-related diseases see PMID: 15810881, 19945614. Mutations in the plectin gene related to human diseases should be named based on the position in NM_000445 (variant 1, isoform 1c), unless the mutation is located within one of the other alternative first exons, in which case the position in the respective Reference Sequence should be used. [provided by RefSeq, Aug 2011]

GeneCards Summary for PLEC Gene

PLEC (Plectin) is a Protein Coding gene. Diseases associated with PLEC include Epidermolysis Bullosa Simplex, Ogna Type and Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and Adhesion. Gene Ontology (GO) annotations related to this gene include structural constituent of muscle. An important paralog of this gene is DSP.

UniProtKB/Swiss-Prot Summary for PLEC Gene

  • Interlinks intermediate filaments with microtubules and microfilaments and anchors intermediate filaments to desmosomes or hemidesmosomes. Could also bind muscle proteins such as actin to membrane complexes in muscle. May be involved not only in the filaments network, but also in the regulation of their dynamics. Structural component of muscle. Isoform 9 plays a major role in the maintenance of myofiber integrity.

Gene Wiki entry for PLEC Gene

Additional gene information for PLEC Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PLEC Gene

Genomics for PLEC Gene

GeneHancer (GH) Regulatory Elements for PLEC Gene

Promoters and enhancers for PLEC Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J143927 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 543.5 +33.1 33091 32.1 FOXK2 HNRNPK ZBTB40 ZNF217 EP300 CTCF SIN3A NRF1 TCF12 MYC PLEC MIR661 NONHSAG051524.2 ZNF7 VPS28 CPSF1 PARP10 GPAA1 ADCK5 ZNF251
GH08J143968 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 530.2 +2.6 2552 11 ZNF217 CTCF SIN3A NRF1 TCF12 POLR2G USF1 SP1 NCOR1 ZFX PLEC WDR97 ZNF623 ZNF16 MIR661 ZNF7 PARP10 SPATC1 ZNF251 EXOSC4
GH08J143905 Enhancer 1.2 Ensembl ENCODE dbSUPER 41.5 +70.2 70249 2.1 FOXK2 ZNF217 POLR2G NCOR1 KDM6A CLOCK SKI TEAD1 ZKSCAN8 CTBP1 PLEC EPPK1 PUF60 MIR661 NRBP2 SCRIB SPATC1 PARP10 EXOSC4 ENSG00000255224
GH08J143964 Promoter/Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 35.8 +10.6 10645 3.6 GATAD2B CTBP1 HCFC1 SIN3A ESRRA ZNF592 NEUROD1 GATA3 FOXA1 PKNOX1 PLEC PARP10 SPATC1 EXOSC4 ENSG00000255224 EPPK1 PUF60 C8orf82 C8orf31 EEF1D
GH08J143985 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 25.5 -10.1 -10109 4.2 SIN3A POLR2G ZFX ZNF10 ZIC2 POLR2A ZBTB11 CTCF TGIF2 SREBF2 PARP10 PLEC lnc-PLEC-2 lnc-PLEC-3 RF00017-7374 RF00017-7371
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PLEC on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PLEC

Genomic Locations for PLEC Gene

Genomic Locations for PLEC Gene
chr8:143,915,147-143,976,792
(GRCh38/hg38)
Size:
61,646 bases
Orientation:
Minus strand
chr8:144,989,321-145,050,913
(GRCh37/hg19)
Size:
61,593 bases
Orientation:
Minus strand

Genomic View for PLEC Gene

Genes around PLEC on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLEC Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PLEC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLEC Gene

Proteins for PLEC Gene

  • Protein details for PLEC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15149-PLEC_HUMAN
    Recommended name:
    Plectin
    Protein Accession:
    Q15149
    Secondary Accessions:
    • Q15148
    • Q16640
    • Q6S376
    • Q6S377
    • Q6S378
    • Q6S379
    • Q6S380
    • Q6S381
    • Q6S382
    • Q6S383

    Protein attributes for PLEC Gene

    Size:
    4684 amino acids
    Molecular mass:
    531791 Da
    Quaternary structure:
    • Homodimer or homotetramer. Interacts (via actin-binding domain) with SYNE3. Interacts (via calponin-homology (CH) 1 domain) with VIM (via rod region) (By similarity). Interacts (via N-terminus) with DST isoform 2 (via N-terminus) (PubMed:19932097). Interacts with FER. Interacts with TOR1A (PubMed:18827015). Interacts with ANK3 (PubMed:21223964). Identified in complexes that contain VIM, EZR, AHNAK, BFSP1, BFSP2, ANK2, PLEC, PRX and spectrin (By similarity). Interacts with COL17A1 (PubMed:12482924).

    Three dimensional structures from OCA and Proteopedia for PLEC Gene

    Alternative splice isoforms for PLEC Gene

neXtProt entry for PLEC Gene

Post-translational modifications for PLEC Gene

  • Phosphorylated by CDK1; regulates dissociation from intermediate filaments during mitosis.
  • Ubiquitination at Lys1210
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PLEC Gene

Domains & Families for PLEC Gene

Gene Families for PLEC Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for PLEC Gene

Blocks:
  • Actin-binding, actinin-type
  • Calponin-like actin-binding
  • Spectrin repeat
  • Plectin repeat
  • Plectin/S10, N-terminal
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PLEC Gene

GenScript: Design optimal peptide antigens:
  • Plectin 1, intermediate filament binding protein 500kDa, isoform CRA_b (D3DWL0_HUMAN)
  • Plectin-1 (PLEC_HUMAN)
  • Plectin isoform 1b (Q8WXV5_HUMAN)
  • Plectin isoform 1a (Q8WXV6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q15149

UniProtKB/Swiss-Prot:

PLEC_HUMAN :
  • The N-terminus interacts with actin, the C-terminus with vimentin, desmin, GFAP, cytokeratins, lamin B; whereas both the N- and the C-terminus can bind integrin beta-4.
  • Belongs to the plakin or cytolinker family.
Domain:
  • The N-terminus interacts with actin, the C-terminus with vimentin, desmin, GFAP, cytokeratins, lamin B; whereas both the N- and the C-terminus can bind integrin beta-4.
Family:
  • Belongs to the plakin or cytolinker family.
genes like me logo Genes that share domains with PLEC: view

Function for PLEC Gene

Molecular function for PLEC Gene

UniProtKB/Swiss-Prot Function:
Interlinks intermediate filaments with microtubules and microfilaments and anchors intermediate filaments to desmosomes or hemidesmosomes. Could also bind muscle proteins such as actin to membrane complexes in muscle. May be involved not only in the filaments network, but also in the regulation of their dynamics. Structural component of muscle. Isoform 9 plays a major role in the maintenance of myofiber integrity.

Phenotypes From GWAS Catalog for PLEC Gene

Gene Ontology (GO) - Molecular Function for PLEC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0003779 actin binding IEA --
GO:0005200 structural constituent of cytoskeleton IBA 21873635
GO:0005515 protein binding IPI,IEA 12482924
GO:0008092 cytoskeletal protein binding IEA --
genes like me logo Genes that share ontologies with PLEC: view
genes like me logo Genes that share phenotypes with PLEC: view

Human Phenotype Ontology for PLEC Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PLEC Gene

MGI Knock Outs for PLEC:

Animal Model Products

CRISPR Products

miRNA for PLEC Gene

miRTarBase miRNAs that target PLEC

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLEC

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PLEC Gene

Localization for PLEC Gene

Subcellular locations from UniProtKB/Swiss-Prot for PLEC Gene

Cytoplasm, cytoskeleton. Cell junction, hemidesmosome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PLEC gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
cytosol 5
extracellular 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Focal adhesion sites (4)
  • Intermediate filaments (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PLEC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0005882 colocalizes_with intermediate filament IBA 21873635
GO:0005886 plasma membrane NAS 8633055
genes like me logo Genes that share ontologies with PLEC: view

Pathways & Interactions for PLEC Gene

genes like me logo Genes that share pathways with PLEC: view

Pathways by source for PLEC Gene

2 GeneGo (Thomson Reuters) pathways for PLEC Gene
  • Cytoskeleton remodeling Keratin filaments
  • Cytoskeleton remodeling Neurofilaments
2 Cell Signaling Technology pathways for PLEC Gene

SIGNOR curated interactions for PLEC Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for PLEC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031581 hemidesmosome assembly IBA,TAS --
GO:0042060 wound healing IBA 21873635
GO:0045104 intermediate filament cytoskeleton organization IBA 21873635
genes like me logo Genes that share ontologies with PLEC: view

Drugs & Compounds for PLEC Gene

No Compound Related Data Available

Transcripts for PLEC Gene

mRNA/cDNA for PLEC Gene

8 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLEC

Alternative Splicing Database (ASD) splice patterns (SP) for PLEC Gene

No ASD Table

Relevant External Links for PLEC Gene

GeneLoc Exon Structure for
PLEC

Expression for PLEC Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PLEC Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PLEC Gene

This gene is overexpressed in Bone marrow stromal cell (24.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PLEC Gene



Protein tissue co-expression partners for PLEC Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PLEC

SOURCE GeneReport for Unigene cluster for PLEC Gene:

Hs.434248

mRNA Expression by UniProt/SwissProt for PLEC Gene:

Q15149-PLEC_HUMAN
Tissue specificity: Widely expressed with highest levels in muscle, heart, placenta and spinal cord.

Evidence on tissue expression from TISSUES for PLEC Gene

  • Liver(4.9)
  • Blood(4.8)
  • Kidney(4.2)
  • Skin(4.2)
  • Heart(3.9)
  • Lung(3.7)
  • Pancreas(3.6)
  • Intestine(3.5)
  • Nervous system(3.5)
  • Muscle(3.4)
  • Gall bladder(2.9)
  • Adrenal gland(2.8)
  • Eye(2.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PLEC Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • scalp
  • skull
  • tooth
Thorax:
  • lung
Abdomen:
  • kidney
  • stomach
Pelvis:
  • placenta
  • urethra
  • urinary bladder
  • uterus
Limb:
  • ankle
  • digit
  • elbow
  • femur
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • nail
  • shoulder
  • thigh
  • toe
  • upper limb
  • wrist
General:
  • blood
  • hair
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with PLEC: view

No data available for mRNA differential expression in normal tissues for PLEC Gene

Orthologs for PLEC Gene

This gene was present in the common ancestor of chordates.

Orthologs for PLEC Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PLEC 31 30
  • 98.91 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PLEC 31
  • 93 (a)
OneToOne
LOC786966 30
  • 89.18 (n)
dog
(Canis familiaris)
Mammalia PLEC 31 30
  • 89.44 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Plec 17 31 30
  • 87 (n)
rat
(Rattus norvegicus)
Mammalia Plec 30
  • 86.81 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 80 (a)
OneToMany
-- 31
  • 72 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia PLEC 31
  • 49 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PLEC 31
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia plec 30
  • 67.97 (n)
Str.10171 30
African clawed frog
(Xenopus laevis)
Amphibia LOC398587 30
zebrafish
(Danio rerio)
Actinopterygii plecb 31
  • 64 (a)
OneToMany
pleca 31 30
  • 62.29 (n)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9945 30
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 41 (a)
OneToOne
Species where no ortholog for PLEC was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PLEC Gene

ENSEMBL:
Gene Tree for PLEC (if available)
TreeFam:
Gene Tree for PLEC (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PLEC: view image

Paralogs for PLEC Gene

(16) SIMAP similar genes for PLEC Gene using alignment to 6 proteins:

  • PLEC_HUMAN
  • E9PIA2_HUMAN
  • E9PKG0_HUMAN
  • E9PMV1_HUMAN
  • E9PQ28_HUMAN
  • H0YDN1_HUMAN

Pseudogenes.org Pseudogenes for PLEC Gene

genes like me logo Genes that share paralogs with PLEC: view

Variants for PLEC Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PLEC Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
538973 Uncertain Significance: Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex with pyloric atresia; Epidermolysa bullosa simplex and limb girdle muscular dystrophy; Limb-girdle muscular dystrophy, type 2Q; Epidermolysis bullosa simplex with nail dystrophy 143,927,341(-) TG/. INTRON_VARIANT
635338 Uncertain Significance: Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex with pyloric atresia; Epidermolysa bullosa simplex and limb girdle muscular dystrophy; Limb-girdle muscular dystrophy, type 2Q; Epidermolysis bullosa simplex with nail dystrophy 143,932,188(-) A/G MISSENSE_VARIANT
635339 Uncertain Significance: Limb-girdle muscular dystrophy, type 2Q 143,924,885(-) G/A NONSENSE
638824 Uncertain Significance: Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex with pyloric atresia; Epidermolysa bullosa simplex and limb girdle muscular dystrophy; Limb-girdle muscular dystrophy, type 2Q; Epidermolysis bullosa simplex with nail dystrophy 143,920,580(-) C/T MISSENSE_VARIANT
639094 Uncertain Significance: Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex with pyloric atresia; Epidermolysa bullosa simplex and limb girdle muscular dystrophy; Limb-girdle muscular dystrophy, type 2Q; Epidermolysis bullosa simplex with nail dystrophy 143,918,858(-) C/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for PLEC Gene

Structural Variations from Database of Genomic Variants (DGV) for PLEC Gene

Variant ID Type Subtype PubMed ID
dgv1206n67 CNV gain 20364138
dgv12431n54 CNV loss 21841781
dgv12432n54 CNV loss 21841781
dgv12433n54 CNV gain 21841781
dgv906n27 CNV loss 19166990
esv2658236 CNV deletion 23128226
esv2738044 CNV deletion 23290073
esv2738045 CNV deletion 23290073
nsv1076123 CNV deletion 25765185
nsv1151245 CNV insertion 26484159
nsv1161815 CNV deletion 26073780
nsv470249 CNV loss 18288195
nsv470250 CNV gain 18288195
nsv515809 CNV gain+loss 19592680
nsv612903 CNV loss 21841781
nsv612904 CNV loss 21841781
nsv612906 CNV loss 21841781
nsv612907 CNV gain+loss 21841781
nsv612911 CNV gain 21841781
nsv612912 CNV loss 21841781
nsv612914 CNV loss 21841781
nsv6445 CNV insertion 18451855
nsv818664 CNV loss 17921354
nsv819867 CNV loss 19587683
nsv824793 CNV gain 20364138
nsv824794 CNV gain 20364138
nsv824795 CNV gain 20364138
nsv824796 CNV loss 20364138
nsv824798 CNV loss 20364138
nsv950015 CNV deletion 24416366

Variation tolerance for PLEC Gene

Residual Variation Intolerance Score: 99.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 27.47; 99.82% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PLEC Gene

Human Gene Mutation Database (HGMD)
PLEC
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PLEC

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLEC Gene

Disorders for PLEC Gene

MalaCards: The human disease database

(44) MalaCards diseases for PLEC Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

UniProtKB/Swiss-Prot

PLEC_HUMAN
  • Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) [MIM:612138]: Autosomal recessive genodermatosis characterized by severe skin blistering at birth and congenital pyloric atresia. Death usually occurs in infancy. This disorder is allelic to MD-EBS. {ECO:0000269 PubMed:14675180, ECO:0000269 PubMed:20665883}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Epidermolysis bullosa simplex, with muscular dystrophy (MD-EBS) [MIM:226670]: A form of epidermolysis bullosa characterized by the association of blister formation at the level of the hemidesmosome with late-onset muscular dystrophy. {ECO:0000269 PubMed:11159198, ECO:0000269 PubMed:20665883, ECO:0000269 PubMed:21263134, ECO:0000269 PubMed:8894687}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Epidermolysis bullosa simplex, Ogna type (O-EBS) [MIM:131950]: A form of intraepidermal epidermolysis bullosa characterized by generalized skin bruising, skin fragility with non-scarring blistering and small hemorrhagic blisters on hands. At the ultrastructural level, it is differentiated from classical cases of K-EBS, WC-EBS and DM-EBS, by the occurrence of blisters originating in basal cells above hemidesmosomes, and abnormal hemidesmosome intracellular attachment plates. {ECO:0000269 PubMed:11851880}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Muscular dystrophy, limb-girdle, autosomal recessive 17 (LGMDR17) [MIM:613723]: A form of limb-girdle muscular dystrophy characterized by early childhood onset of proximal muscle weakness. Limb-girdle muscular dystrophies are characterized by proximal weakness, weakness of the hip and shoulder girdles and prominent asymmetrical quadriceps femoris and biceps brachii atrophy. {ECO:0000269 PubMed:21109228, ECO:0000269 PubMed:25556389, ECO:0000269 PubMed:27234031}. Note=The disease is caused by mutations affecting the gene represented in this entry. A 9 bp deletion containing the initiation codon in exon 1f of PLEC have been found in limb-girdle muscular dystrophy patients. The mutation results in deficient expression of isoform 9 and disorganization of the myofibers, without any effect on the skin.
  • Epidermolysis bullosa simplex with nail dystrophy (EBSND) [MIM:616487]: A form of epidermolysis bullosa, a dermatologic disorder characterized by skin blistering. EBSND patients also manifest nail dystrophy. {ECO:0000269 PubMed:25712130}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PLEC

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No data available for Genatlas for PLEC Gene

Publications for PLEC Gene

  1. Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy. (PMID: 8894687) Pulkkinen L … Uitto J (Human molecular genetics 1996) 3 4 23 54
  2. Human plectin: organization of the gene, sequence analysis, and chromosome localization (8q24). (PMID: 8633055) Liu CG … Wiche G (Proceedings of the National Academy of Sciences of the United States of America 1996) 2 3 4 54
  3. Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization. (PMID: 8698233) McLean WH … Uitto J (Genes & development 1996) 3 4 23 54
  4. Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex. (PMID: 25712130) Gostyńska KB … Jonkman MF (Human molecular genetics 2015) 3 4 54
  5. Report of a patient with limb-girdle muscular dystrophy, ptosis and ophthalmoparesis caused by plectinopathy. (PMID: 25556389) Fattahi Z … Najmabadi H (Archives of Iranian medicine 2015) 3 4 54

Products for PLEC Gene

  • Signalway ELISA kits for PLEC
  • Signalway Proteins for PLEC

Sources for PLEC Gene