AutismKB 2.0

Annotation Detail for GCNT2


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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
Post Translation Modification Top
Location(AA) Modification
41N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001491
  • Location:chr6 10663934-10737585
  • strand:+
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 10672986 10673533 547 0
Oct1 HelaGSE14283 10668877 10668903 26 0
p63 keratinocytesGSE17611 10691153 10691977 824 0
Validated miRNA targets Top
Cis-Nats regulation Top

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