AutismKB 2.0

Annotation Details for PLEC


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Basic Information Top
Gene Symbol:PLEC ( EBS1,EBSO,HD1,PCN,PLEC1,PLEC1b,PLTN )
Gene Full Name: plectin
Band: 8q24.3
Quick LinksEntrez ID:5339; OMIM: 601282; Uniprot ID:PLEC_HUMAN; ENSEMBL ID: ENSG00000178209; HGNC ID: 9069
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005829IDA-cytosol-
GO:0005829TAS-cytosol-
GO:0005886NAS-plasma membrane8633055
GO:0005903IEA-brush border-
GO:0005925IDA-focal adhesion21423176
GO:0016528ISS-sarcoplasm21223964
GO:0030056IDA-hemidesmosome12482924
GO:0031012IDA-extracellular matrix23979707
GO:0042383IDA-sarcolemma21109228
GO:0043034TAS-costamere21223964
GO:0045111IDA-intermediate filament cytoskeleton-
GO:0070062IDA-extracellular exosome19199708
GO ID Evidence Qualifier GO_term References
GO:0003723IDA-RNA binding22658674
GO:0003779IEA-actin binding-
GO:0005515IPI-protein binding12482924
GO:0008307TAS-structural constituent of muscle8696340
GO:0030506IPI-ankyrin binding21223964
GO:0045296IDA-cadherin binding25468996
GO ID Evidence Qualifier GO_term References
GO:0031581IDA-hemidesmosome assembly12482924
GO:0031581TAS-hemidesmosome assembly-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
PLECGRB210914212577067 Affinity Capture-MS
PLECGRB211135512577067 Affinity Capture-MS
PLECMAP21103053027087 Reconstituted Complex
PLECMAP21113553027087 Reconstituted Complex
SPTAN1PLEC1125873027087 11441066 Affinity Capture-Western; Reconstituted Complex
SPTAN1PLEC1113553027087 11441066 Affinity Capture-Western; Reconstituted Complex
VIMPLEC1132723027087 11441066 Affinity Capture-Western; Reconstituted Complex
VIMPLEC1113553027087 11441066 Affinity Capture-Western; Reconstituted Complex
SPTA1PLEC1125863027087 Reconstituted Complex
SPTA1PLEC1113553027087 Reconstituted Complex
SRRM2PLEC11707116159877 Affinity Capture-MS
SRRM2PLEC11135516159877 Affinity Capture-MS
USP20PLEC11607719615732 Affinity Capture-MS
USP20PLEC11135519615732 Affinity Capture-MS
KCTD13PLEC12900119615732 Affinity Capture-MS
KCTD13PLEC11135519615732 Affinity Capture-MS
PAN2PLEC11525219615732 Affinity Capture-MS
PAN2PLEC11135519615732 Affinity Capture-MS
PLEKHA5PLEC11998220936779 Two-hybrid
PLEKHA5PLEC11135520936779 Two-hybrid
No data
Gene Symbol Interactant Interaction ID References Description
PLECMSN0318011441066 -
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1277961
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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