AutismKB 2.0

Annotation Details for GDF2


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Basic Information Top
Gene Symbol:GDF2 ( BMP-9,BMP9 )
Gene Full Name: growth differentiation factor 2
Band: 10q11.22
Quick LinksEntrez ID:2658; OMIM: 605120; Uniprot ID:GDF2_HUMAN; ENSEMBL ID: ENSG00000128802; HGNC ID: 4217
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005576TAS-extracellular region-
GO:0005615IBA-extracellular space-
GO:0005623IEA-cell-
GO:0070062IDA-extracellular exosome19056867
GO ID Evidence Qualifier GO_term References
GO:0005125IBA-cytokine activity-
GO:0005160IBA-transforming growth factor beta receptor binding-
GO:0005515IPI-protein binding17068149
GO:0008083IEA-growth factor activity-
GO ID Evidence Qualifier GO_term References
GO:0001503TAS-ossification20406889
GO:0001525IMP-angiogenesis23972370
GO:0001569IDA-branching involved in blood vessel morphogenesis20406889
GO:0001570IEA-vasculogenesis-
GO:0001649IEA-osteoblast differentiation-
GO:0001937IDA-negative regulation of endothelial cell proliferation20406889
GO:0001938IDA-positive regulation of endothelial cell proliferation20406889
GO:0006879TAS-cellular iron ion homeostasis20406889
GO:0008156TAS-negative regulation of DNA replication20406889
GO:0010596IDA-negative regulation of endothelial cell migration17068149
GO:0010862IDA-positive regulation of pathway-restricted SMAD protein phosphorylation17068149
GO:0016525TAS-negative regulation of angiogenesis20406889
GO:0030308IDA-negative regulation of cell growth17068149
GO:0030509IDA-BMP signaling pathway17068149
GO:0030509TAS-BMP signaling pathway-
GO:0030513IEA-positive regulation of BMP signaling pathway-
GO:0032757IDA-positive regulation of interleukin-8 production19366699
GO:0032924IDA-activin receptor signaling pathway17068149
GO:0042981IBA-regulation of apoptotic process-
GO:0043408IBA-regulation of MAPK cascade-
GO:0043537TAS-negative regulation of blood vessel endothelial cell migration20406889
GO:0045603IEA-positive regulation of endothelial cell differentiation-
GO:0045669IEA-positive regulation of osteoblast differentiation-
GO:0045766IDA-positive regulation of angiogenesis20406889
GO:0045893IDA-positive regulation of transcription, DNA-templated17068149
GO:0045944IDA-positive regulation of transcription from RNA polymerase II promoter19366699
GO:0048468IBA-cell development-
GO:0048514IDA-blood vessel morphogenesis20406889
GO:0051216TAS-cartilage development20406889
GO:0060389IDA-pathway-restricted SMAD protein phosphorylation17068149
GO:0060395IBA-SMAD protein signal transduction-
GO:0061036IEA-positive regulation of cartilage development-
GO:0071773IDA-cellular response to BMP stimulus19366699
GO:2000279IDA-negative regulation of DNA biosynthetic process19366699
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1321394
  • Data Attributes: MGI curated and HomoloGene calculated
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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


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