AutismKB 2.0

Annotation Details for PDGFD


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Basic Information Top
Gene Symbol:PDGFD ( IEGF,MGC26867,SCDGF-B,SCDGFB )
Gene Full Name: platelet derived growth factor D
Band: 11q22.3
Quick LinksEntrez ID:80310; OMIM: 609673; Uniprot ID:PDGFD_HUMAN; ENSEMBL ID: ENSG00000170962; HGNC ID: 30620
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0000139TAS-Golgi membrane-
GO:0005576TAS-extracellular region-
GO:0005615IBA-extracellular space-
GO:0005788TAS-endoplasmic reticulum lumen-
GO:0070062IDA-extracellular exosome23376485
GO ID Evidence Qualifier GO_term References
GO:0005161IBA-platelet-derived growth factor receptor binding-
GO:0008083IEA-growth factor activity-
GO ID Evidence Qualifier GO_term References
GO:0007275IEA-multicellular organism development-
GO:0007596IBA-blood coagulation-
GO:0008284IBA-positive regulation of cell proliferation-
GO:0014068IBA-positive regulation of phosphatidylinositol 3-kinase signaling-
GO:0030335IBA-positive regulation of cell migration-
GO:0031954IBA-positive regulation of protein autophosphorylation-
GO:0036120IEA-cellular response to platelet-derived growth factor stimulus-
GO:0043406IBA-positive regulation of MAP kinase activity-
GO:0048008IBA-platelet-derived growth factor receptor signaling pathway-
GO:0048146IEA-positive regulation of fibroblast proliferation-
GO:0048661IEA-positive regulation of smooth muscle cell proliferation-
GO:0050730IEA-regulation of peptidyl-tyrosine phosphorylation-
GO:0051781IEA-positive regulation of cell division-
GO:0070301IEA-cellular response to hydrogen peroxide-
GO:0070374IBA-positive regulation of ERK1 and ERK2 cascade-
GO:0071230IEA-cellular response to amino acid stimulus-
GO:0071560IEA-cellular response to transforming growth factor beta stimulus-
GO:0071673IEA-positive regulation of smooth muscle cell chemotaxis-
GO:0072126IEA-positive regulation of glomerular mesangial cell proliferation-
GO:2000439IEA-positive regulation of monocyte extravasation-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1919035
  • Data Attributes: MGI curated and HomoloGene calculated
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