AutismKB 2.0

Annotation Details for MAU2


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Basic Information Top
Gene Symbol:MAU2 ( KIAA0892,MAU2L,MGC75361,SCC4,mau-2 )
Gene Full Name: MAU2 chromatid cohesion factor homolog (C. elegans)
Band: 19p13.11
Quick LinksEntrez ID:23383; OMIM: NA; Uniprot ID:SCC4_HUMAN; ENSEMBL ID: ENSG00000129933; HGNC ID: 29140
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0000785IDA-chromatin16682347
GO:0005634IDA-nucleus16682347
GO:0005654IDA-nucleoplasm16682347
GO:0005654TAS-nucleoplasm-
GO:0016604IDA-nuclear body-
GO:0032116IDA-SMC loading complex16682347
GO:0032116IMP-SMC loading complex16802858
GO ID Evidence Qualifier GO_term References
GO:0003690IBA-double-stranded DNA binding-
GO:0005515IPI-protein binding16682347
GO:0047485IPI-protein N-terminus binding16802858
GO ID Evidence Qualifier GO_term References
GO:0034088IMP-maintenance of mitotic sister chromatid cohesion16682347
GO:0051301IEA-cell division-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1921799
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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  (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