AutismKB 2.0

Annotation Details for GGTLC2


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Basic Information Top
Gene Symbol:GGTLC2 ( GGTL4,MGC96916 )
Gene Full Name: gamma-glutamyltransferase light chain 2
Band: 22q11.22
Quick LinksEntrez ID:91227; OMIM: 612339; Uniprot ID:GGTL2_HUMAN; ENSEMBL ID: ENSG00000100121; HGNC ID: 18596
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0031362TAS-anchored component of external side of plasma membrane18357469
GO:0070062IDA-extracellular exosome23533145
GO ID Evidence Qualifier GO_term References
GO:0003840TAS-gamma-glutamyltransferase activity18357469
GO:0036374IEA-glutathione hydrolase activity-
GO ID Evidence Qualifier GO_term References
GO:0006508IEA-proteolysis-
GO:0006749NAS-glutathione metabolic process18357469
GO:0006751IEA-glutathione catabolic process-
GO:0019370ISS-leukotriene biosynthetic process-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model 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