AutismKB 2.0

Annotation Details for OSTBETA


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Basic Information Top
Gene Symbol:OSTBETA ( FLJ26090,MGC118959,MGC118960,MGC118961,OSTB )
Gene Full Name: -
Band: 15q22.31
Quick LinksEntrez ID:123264; OMIM: 612085; Uniprot ID:OSTB_HUMAN; ENSEMBL ID: ENSG00000186198; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005886IDA-plasma membrane12719432
GO:0016021ISS-integral component of membrane-
GO:0043234ISS-protein complex-
GO ID Evidence Qualifier GO_term References
GO:0005215IEA-transporter activity-
GO:0046982ISS-protein heterodimerization activity-
GO ID Evidence Qualifier GO_term References
GO:0015721ISS-bile acid and bile salt transport-
GO:0031647ISS-regulation of protein stability-
GO:0060050ISS-positive regulation of protein glycosylation-
GO:0070863ISS-positive regulation of protein exit from endoplasmic reticulum-
GO:0090314ISS-positive regulation of protein targeting to membrane-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:3582052
  • Data Attributes: HomoloGene calculated
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