AutismKB 2.0

Annotation Details for MBD5


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Basic Information Top
Gene Symbol:MBD5 ( FLJ11113,FLJ30517,KIAA1461,MRD1 )
Gene Full Name: methyl-CpG binding domain protein 5
Band: 2q23.2
Quick LinksEntrez ID:55777; OMIM: 611472; Uniprot ID:MBD5_HUMAN; ENSEMBL ID: ENSG00000204406; HGNC ID: 20444
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005634IDA-nucleus20700456
GO:0005654TAS-nucleoplasm-
GO:0010369IDA-chromocenter20700456
GO:0030496IDA-midbody-
GO:0070062IDA-extracellular exosome19056867
GO ID Evidence Qualifier GO_term References
GO:0003677IDANOTDNA binding20700456
GO:0003682IDA-chromatin binding20700456
GO ID Evidence Qualifier GO_term References
GO:0007399IMP-nervous system development23587880
GO:0016579TAS-protein deubiquitination-
GO:0040014ISS-regulation of multicellular organism growth-
GO:0042593ISS-glucose homeostasis-
GO:0044708IMP-single-organism behavior23587880
GO:0060399ISS-positive regulation of growth hormone receptor signaling pathway-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
MBD5APC10682120936779 Two-hybrid
MBD5APC12089220936779 Two-hybrid
No data
No data
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