AutismKB 2.0

Annotation Details for MACROD2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:MACROD2 ( C20orf133 )
Gene Full Name: MACRO domain containing 2
Band: 20p12.1
Quick LinksEntrez ID:140733; OMIM: 611567; Uniprot ID:MACD2_HUMAN; ENSEMBL ID: ENSG00000172264; HGNC ID: 16126
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005634IDA-nucleus23474712
GO:0005730IDA-nucleolus-
GO:0005813IDA-centrosome-
GO ID Evidence Qualifier GO_term References
GO:0016798IDA-hydrolase activity, acting on glycosyl bonds23474712
GO:0019213IDA-deacetylase activity21257746
GO ID Evidence Qualifier GO_term References
GO:0006974IMP-cellular response to DNA damage stimulus23474712
GO:0007420IEA-brain development-
GO:0042278IDA-purine nucleoside metabolic process21257746
GO:0051725IDA-protein de-ADP-ribosylation23474712
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
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