AutismKB 2.0

Annotation Details for PBLD


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Basic Information Top
Gene Symbol:PBLD ( FLJ14767,FLJ35507,MAWBP,MAWDBP )
Gene Full Name: phenazine biosynthesis-like protein domain containing
Band: 10q21.3
Quick LinksEntrez ID:64081; OMIM: 612189; Uniprot ID:PBLD_HUMAN; ENSEMBL ID: ENSG00000108187; HGNC ID: 23301
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005737IDA-cytoplasm17929853
GO:0070062IDA-extracellular exosome19056867
GO ID Evidence Qualifier GO_term References
GO:0003674ND-molecular_function-
GO:0005515IPI-protein binding16189514
GO:0016853IEA-isomerase activity-
GO:0042802IPI-identical protein binding25416956
GO ID Evidence Qualifier GO_term References
GO:0009058IEA-biosynthetic process-
GO:0010633IMP-negative regulation of epithelial cell migration23687415
GO:0010719IMP-negative regulation of epithelial to mesenchymal transition23687415
GO:0030277IMP-maintenance of gastrointestinal epithelium17929853
GO:0030512IMP-negative regulation of transforming growth factor beta receptor signaling pathway23687415
GO:0050680IMP-negative regulation of epithelial cell proliferation23687415
GO:0060392IGI-negative regulation of SMAD protein import into nucleus23687415
GO:0060394IMP-negative regulation of pathway-restricted SMAD protein phosphorylation23687415
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
PBLDTRIP1311473016189514 Two-hybrid
PBLDTRIP1312204716189514 Two-hybrid
PBLDSTRAP11634211355021 Two-hybrid
PBLDSTRAP12204711355021 Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1915621
  • Data Attributes: HomoloGene calculated
No data
No data

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  (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