AutismKB 2.0

Annotation Details for GCNT2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:GCNT2 ( CCAT,GCNT2C,GCNT5,IGNT,II,MGC163396,NACGT1,NAGCT1,ULG3,bA360O19.2,bA421M1.1 )
Gene Full Name: glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)
Band: 6p24.3-p24.2
Quick LinksEntrez ID:2651; OMIM: 600429; Uniprot ID:GNT2A_HUMAN; ENSEMBL ID: ENSG00000111846; HGNC ID: 4204
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0000139IEA-Golgi membrane-
GO:0005575ND-cellular_component-
GO:0016020TAS-membrane8449405
GO:0016021IEA-integral component of membrane-
GO ID Evidence Qualifier GO_term References
GO:0008109IMP-N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity12424189
GO ID Evidence Qualifier GO_term References
GO:0006024TAS-glycosaminoglycan biosynthetic process8449405
GO:0006486IEA-protein glycosylation-
GO:0006486IMP-protein glycosylation12424189
GO:0007179IMP-transforming growth factor beta receptor signaling pathway21750175
GO:0007275TAS-multicellular organism development9134435
GO:0008284ISS-positive regulation of cell proliferation-
GO:0010608IMP-posttranscriptional regulation of gene expression21750175
GO:0010718IMP-positive regulation of epithelial to mesenchymal transition21750175
GO:0010812IMP-negative regulation of cell-substrate adhesion21750175
GO:0030335IMP-positive regulation of cell migration21750175
GO:0034116IMP-positive regulation of heterotypic cell-cell adhesion21750175
GO:0036438IMP-maintenance of lens transparency12424189
GO:0051897IMP-positive regulation of protein kinase B signaling21750175
GO:0070374IMP-positive regulation of ERK1 and ERK2 cascade21750175
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1100870
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

Simple Query:


  (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