AutismKB 2.0

Annotation Details for UBAC2


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Basic Information Top
Gene Symbol:UBAC2 ( FLJ26351,FLJ30001,FLJ30548,FLJ42413,MGC90487,PHGDHL1 )
Gene Full Name: UBA domain containing 2
Band: 13q32.3
Quick LinksEntrez ID:337867; OMIM: NA; Uniprot ID:UBAC2_HUMAN; ENSEMBL ID: ENSG00000134882; HGNC ID: 20486
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005783IDA-endoplasmic reticulum23297223
GO:0005789IEA-endoplasmic reticulum membrane-
GO:0016021IEA-integral component of membrane-
GO ID Evidence Qualifier GO_term References
GO:0004252IEA-serine-type endopeptidase activity-
GO:0005515IPI-protein binding25416956
GO:0043130IBA-ubiquitin binding-
GO ID Evidence Qualifier GO_term References
GO:0006508IEA-proteolysis-
GO:0070972IDA-protein localization to endoplasmic reticulum23297223
GO:1904153IMP-negative regulation of retrograde protein transport, ER to cytosol25660456
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1916139
  • 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