AutismKB 2.0

Annotation Details for GREM1


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Basic Information Top
Gene Symbol:GREM1 ( CKTSF1B1,DAND2,DRM,GREMLIN,IHG-2,MGC126660 )
Gene Full Name: gremlin 1
Band: 15q13.3
Quick LinksEntrez ID:26585; OMIM: 603054; Uniprot ID:GREM1_HUMAN; ENSEMBL ID: ENSG00000166923; HGNC ID: 2001
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005615NAS-extracellular space9660951
GO:0009986IEA-cell surface-
GO ID Evidence Qualifier GO_term References
GO:0005125IEA-cytokine activity-
GO:0005515IPI-protein binding16545136
GO:0016015ISS-morphogen activity9660951
GO:0030297ISS-transmembrane receptor protein tyrosine kinase activator activity-
GO:0036122ISS-BMP binding9660951
GO:0043184ISS-vascular endothelial growth factor receptor 2 binding9660951
GO:0048018ISS-receptor agonist activity9660951
GO ID Evidence Qualifier GO_term References
GO:0000902IDA-cell morphogenesis16545136
GO:0001658IEA-branching involved in ureteric bud morphogenesis-
GO:0002042ISS-cell migration involved in sprouting angiogenesis9660951
GO:0002092ISS-positive regulation of receptor internalization9660951
GO:0003257ISS-positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation9660951
GO:0003337IEA-mesenchymal to epithelial transition involved in metanephros morphogenesis-
GO:0006915IEA-apoptotic process-
GO:0007165ISS-signal transduction-
GO:0007171IEA-activation of transmembrane receptor protein tyrosine kinase activity-
GO:0007267IEA-cell-cell signaling-
GO:0008284IDA-positive regulation of cell proliferation16545136
GO:0009954IEA-proximal/distal pattern formation-
GO:0010717IMP-regulation of epithelial to mesenchymal transition16816361
GO:0030199IMP-collagen fibril organization15539560
GO:0030308IEA-negative regulation of cell growth-
GO:0030326IEA-embryonic limb morphogenesis-
GO:0030502IMP-negative regulation of bone mineralization15539560
GO:0030514IDA-negative regulation of BMP signaling pathway15539560
GO:0030514IMP-negative regulation of BMP signaling pathway16816361
GO:0032331IMP-negative regulation of chondrocyte differentiation10556075
GO:0032872ISSNOTregulation of stress-activated MAPK cascade9660951
GO:0033689IMP-negative regulation of osteoblast proliferation15539560
GO:0042346IEA-positive regulation of NF-kappaB import into nucleus-
GO:0043066IMP-negative regulation of apoptotic process10556075
GO:0045766IEA-positive regulation of angiogenesis-
GO:0045892IEA-negative regulation of transcription, DNA-templated-
GO:0045944ISS-positive regulation of transcription from RNA polymerase II promoter9660951
GO:0046851IMP-negative regulation of bone remodeling15539560
GO:0048263IMP-determination of dorsal identity9660951
GO:0051092IEA-positive regulation of NF-kappaB transcription factor activity-
GO:0051893IEA-regulation of focal adhesion assembly-
GO:0051973IDA-positive regulation of telomerase activity16545136
GO:0060173IMP-limb development10556075
GO:0060394IDA-negative regulation of pathway-restricted SMAD protein phosphorylation15539560
GO:0060676IEA-ureteric bud formation-
GO:0061098IEA-positive regulation of protein tyrosine kinase activity-
GO:0072331ISSNOTsignal transduction by p53 class mediator9660951
GO:0090027ISS-negative regulation of monocyte chemotaxis-
GO:0090090IDA-negative regulation of canonical Wnt signaling pathway15539560
GO:0090190IEA-positive regulation of branching involved in ureteric bud morphogenesis-
GO:0090191IEA-negative regulation of branching involved in ureteric bud morphogenesis-
GO:0090291IMP-negative regulation of osteoclast proliferation15539560
GO:1900086ISS-positive regulation of peptidyl-tyrosine autophosphorylation9660951
GO:1900155IMP-negative regulation of bone trabecula formation15539560
GO:1900158IMP-negative regulation of bone mineralization involved in bone maturation15539560
GO:2000273ISS-positive regulation of receptor activity-
GO:2000727ISS-positive regulation of cardiac muscle cell differentiation9660951
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1344337
  • 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


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