AutismKB 2.0

Annotation Details for GUCY2C


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Basic Information Top
Gene Symbol:GUCY2C ( GUC2C,STAR )
Gene Full Name: guanylate cyclase 2C (heat stable enterotoxin receptor)
Band: 12p12.3
Quick LinksEntrez ID:2984; OMIM: 601330; Uniprot ID:GUC2C_HUMAN; ENSEMBL ID: ENSG00000070019; HGNC ID: 4688
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005789IEA-endoplasmic reticulum membrane-
GO:0005886IBA-plasma membrane-
GO:0005886TAS-plasma membrane-
GO:0008074IBA-guanylate cyclase complex, soluble-
GO:0016021IEA-integral component of membrane-
GO ID Evidence Qualifier GO_term References
GO:0004016IBANOTadenylate cyclase activity-
GO:0004383IBA-guanylate cyclase activity-
GO:0004672IEA-protein kinase activity-
GO:0005515IPI-protein binding11950846
GO:0005524IEA-ATP binding-
GO:0005525IEA-GTP binding-
GO:0015643IEA-toxic substance binding-
GO ID Evidence Qualifier GO_term References
GO:0006182IBA-cGMP biosynthetic process-
GO:0006468IEA-protein phosphorylation-
GO:0007168TAS-receptor guanylyl cyclase signaling pathway1680854
GO:0007586TAS-digestion-
GO:0009636IEA-response to toxic substance-
GO:0035556IEA-intracellular signal transduction-
GO:0042127IEA-regulation of cell proliferation-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
PDZD3GUCY2C12294011950846 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
PDZD3GUCY2C10923911950846 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:106903
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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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