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PLEC (plectin)

Identity

Alias_namesEBS1
PLEC1
plectin 1, intermediate filament binding protein, 500kD
epidermolysis bullosa simplex 1 (Ogna)
plectin 1, intermediate filament binding protein 500kDa
Alias_symbol (synonym)PCN
PLTN
Other aliasEBSMD
EBSND
EBSO
EBSOG
EBSPA
HD1
LGMD2Q
PLEC1b
HGNC (Hugo) PLEC
LocusID (NCBI) 5339
Atlas_Id 51349
Location 8q24.3  [Link to chromosome band 8q24]
Location_base_pair Starts at 143915147 and ends at 143976745 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
FAM120AOS (9q22.31) / PLEC (8q24.3)FKBP2 (11q13.1) / PLEC (8q24.3)KRT18 (12q13.13) / PLEC (8q24.3)
NEAT1 (11q13.1) / PLEC (8q24.3)PLEC (8q24.3) / EHBP1L1 (11q13.1)PLEC (8q24.3) / ENPP2 (8q24.12)
PLEC (8q24.3) / ERBB2 (17q12)PLEC (8q24.3) / LARP7 (4q25)PLEC (8q24.3) / LIMD1 (3p21.31)
PLEC (8q24.3) / LOC643339 (12q22)PLEC (8q24.3) / PLEC (8q24.3)PLEC (8q24.3) / PLEKHM2 (1p36.21)
PLEC (8q24.3) / PRPF6 (20q13.33)PLEC (8q24.3) / SYMPK (19q13.32)RPS15 (19p13.3) / PLEC (8q24.3)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)PLEC   9069
Cards
Entrez_Gene (NCBI)PLEC  5339  plectin
AliasesEBS1; EBSMD; EBSND; EBSO; 
EBSOG; EBSPA; HD1; LGMD2Q; PCN; PLEC1; PLEC1b; PLTN
GeneCards (Weizmann)PLEC
Ensembl hg19 (Hinxton)ENSG00000178209 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000178209 [Gene_View]  chr8:143915147-143976745 [Contig_View]  PLEC [Vega]
ICGC DataPortalENSG00000178209
TCGA cBioPortalPLEC
AceView (NCBI)PLEC
Genatlas (Paris)PLEC
WikiGenes5339
SOURCE (Princeton)PLEC
Genetics Home Reference (NIH)PLEC
Genomic and cartography
GoldenPath hg38 (UCSC)PLEC  -     chr8:143915147-143976745 -  8q24.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PLEC  -     8q24.3   [Description]    (hg19-Feb_2009)
EnsemblPLEC - 8q24.3 [CytoView hg19]  PLEC - 8q24.3 [CytoView hg38]
Mapping of homologs : NCBIPLEC [Mapview hg19]  PLEC [Mapview hg38]
OMIM131950   226670   226730   601282   612138   613723   616487   
Gene and transcription
Genbank (Entrez)AF330791 AF330792 AY480044 AY480045 AY480046
RefSeq transcript (Entrez)NM_000445 NM_201378 NM_201379 NM_201380 NM_201381 NM_201382 NM_201383 NM_201384
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PLEC
Cluster EST : UnigeneHs.434248 [ NCBI ]
CGAP (NCI)Hs.434248
Alternative Splicing GalleryENSG00000178209
Gene ExpressionPLEC [ NCBI-GEO ]   PLEC [ EBI - ARRAY_EXPRESS ]   PLEC [ SEEK ]   PLEC [ MEM ]
Gene Expression Viewer (FireBrowse)PLEC [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5339
GTEX Portal (Tissue expression)PLEC
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15149   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ15149  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ15149
Splice isoforms : SwissVarQ15149
PhosPhoSitePlusQ15149
Domaine pattern : Prosite (Expaxy)ACTININ_1 (PS00019)    ACTININ_2 (PS00020)    CH (PS50021)   
Domains : Interpro (EBI)Actinin_actin-bd_CS    CH-domain    Plectin    Plectin_repeat    S10_plectin_N    Spectrin/alpha-actinin   
Domain families : Pfam (Sanger)CH (PF00307)    Plectin (PF00681)    S10_plectin (PF03501)   
Domain families : Pfam (NCBI)pfam00307    pfam00681    pfam03501   
Domain families : Smart (EMBL)CH (SM00033)  PLEC (SM00250)  SPEC (SM00150)  
Conserved Domain (NCBI)PLEC
DMDM Disease mutations5339
Blocks (Seattle)PLEC
PDB (SRS)1MB8    2N03    2ODU    2ODV    3F7P    3PDY    3PE0    4GDO    4Q58    4Q59    5J1F    5J1G    5J1H    5J1I   
PDB (PDBSum)1MB8    2N03    2ODU    2ODV    3F7P    3PDY    3PE0    4GDO    4Q58    4Q59    5J1F    5J1G    5J1H    5J1I   
PDB (IMB)1MB8    2N03    2ODU    2ODV    3F7P    3PDY    3PE0    4GDO    4Q58    4Q59    5J1F    5J1G    5J1H    5J1I   
PDB (RSDB)1MB8    2N03    2ODU    2ODV    3F7P    3PDY    3PE0    4GDO    4Q58    4Q59    5J1F    5J1G    5J1H    5J1I   
Structural Biology KnowledgeBase1MB8    2N03    2ODU    2ODV    3F7P    3PDY    3PE0    4GDO    4Q58    4Q59    5J1F    5J1G    5J1H    5J1I   
SCOP (Structural Classification of Proteins)1MB8    2N03    2ODU    2ODV    3F7P    3PDY    3PE0    4GDO    4Q58    4Q59    5J1F    5J1G    5J1H    5J1I   
CATH (Classification of proteins structures)1MB8    2N03    2ODU    2ODV    3F7P    3PDY    3PE0    4GDO    4Q58    4Q59    5J1F    5J1G    5J1H    5J1I   
SuperfamilyQ15149
Human Protein AtlasENSG00000178209
Peptide AtlasQ15149
HPRD03180
IPIIPI00014898   IPI00186711   IPI00398002   IPI00398779   IPI00398777   IPI00398778   IPI00398776   IPI00420096   IPI00398775   IPI00930582   IPI00982497   IPI00977103   IPI00981930   IPI00980623   IPI00984160   
Protein Interaction databases
DIP (DOE-UCLA)Q15149
IntAct (EBI)Q15149
FunCoupENSG00000178209
BioGRIDPLEC
STRING (EMBL)PLEC
ZODIACPLEC
Ontologies - Pathways
QuickGOQ15149
Ontology : AmiGORNA binding  actin binding  protein binding  cytosol  cytosol  plasma membrane  brush border  focal adhesion  structural constituent of muscle  sarcoplasm  hemidesmosome  ankyrin binding  extracellular matrix  hemidesmosome assembly  hemidesmosome assembly  sarcolemma  costamere  intermediate filament cytoskeleton  cadherin binding  extracellular exosome  
Ontology : EGO-EBIRNA binding  actin binding  protein binding  cytosol  cytosol  plasma membrane  brush border  focal adhesion  structural constituent of muscle  sarcoplasm  hemidesmosome  ankyrin binding  extracellular matrix  hemidesmosome assembly  hemidesmosome assembly  sarcolemma  costamere  intermediate filament cytoskeleton  cadherin binding  extracellular exosome  
NDEx NetworkPLEC
Atlas of Cancer Signalling NetworkPLEC
Wikipedia pathwaysPLEC
Orthology - Evolution
OrthoDB5339
GeneTree (enSembl)ENSG00000178209
Phylogenetic Trees/Animal Genes : TreeFamPLEC
HOVERGENQ15149
HOGENOMQ15149
Homologs : HomoloGenePLEC
Homology/Alignments : Family Browser (UCSC)PLEC
Gene fusions - Rearrangements
Fusion : MitelmanKRT18/PLEC [12q13.13/8q24.3]  [t(8;12)(q24;q13)]  
Fusion : MitelmanPLEC/ENPP2 [8q24.3/8q24.12]  [t(8;8)(q24;q24)]  
Fusion : MitelmanPLEC/PLEKHM2 [8q24.3/1p36.21]  [t(1;8)(p36;q24)]  
Fusion : MitelmanRPS15/PLEC [19p13.3/8q24.3]  [t(8;19)(q24;p13)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPLEC [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PLEC
dbVarPLEC
ClinVarPLEC
1000_GenomesPLEC 
Exome Variant ServerPLEC
ExAC (Exome Aggregation Consortium)PLEC (select the gene name)
Genetic variants : HAPMAP5339
Genomic Variants (DGV)PLEC [DGVbeta]
DECIPHERPLEC [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPLEC 
Mutations
ICGC Data PortalPLEC 
TCGA Data PortalPLEC 
Broad Tumor PortalPLEC
OASIS PortalPLEC [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPLEC  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPLEC
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PLEC
DgiDB (Drug Gene Interaction Database)PLEC
DoCM (Curated mutations)PLEC (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PLEC (select a term)
intoGenPLEC
Cancer3DPLEC(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM131950    226670    226730    601282    612138    613723    616487   
Orphanet17236    19742    4046    11427   
MedgenPLEC
Genetic Testing Registry PLEC
NextProtQ15149 [Medical]
TSGene5339
GENETestsPLEC
Target ValidationPLEC
Huge Navigator PLEC [HugePedia]
snp3D : Map Gene to Disease5339
BioCentury BCIQPLEC
ClinGenPLEC
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5339
Chemical/Pharm GKB GenePA33399
Clinical trialPLEC
Miscellaneous
canSAR (ICR)PLEC (select the gene name)
Probes
Litterature
PubMed150 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePLEC
EVEXPLEC
GoPubMedPLEC
iHOPPLEC
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jun 7 12:49:48 CEST 2017

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