AutismKB 2.0

Annotation Details for OSBPL8


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:OSBPL8 ( DKFZp686A11164,MGC126578,MGC133203,MST120,MSTP120,ORP8,OSBP10 )
Gene Full Name: oxysterol binding protein-like 8
Band: 12q14
Quick LinksEntrez ID:114882; OMIM: 606736; Uniprot ID:OSBL8_HUMAN; ENSEMBL ID: ENSG00000091039; HGNC ID: 16396
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005789IEA-endoplasmic reticulum membrane-
GO:0005829TAS-cytosol-
GO:0016020IDA-membrane19946888
GO:0016021IEA-integral component of membrane-
GO:0031965IEA-nuclear membrane-
GO ID Evidence Qualifier GO_term References
GO:0001786IDA-phosphatidylserine binding26206935
GO:0005548IDA-phospholipid transporter activity26206935
GO:0005548TAS-phospholipid transporter activity-
GO:0015485IDA-cholesterol binding17428193
GO:0070273IDA-phosphatidylinositol-4-phosphate binding26206935
GO ID Evidence Qualifier GO_term References
GO:0010891IDA-negative regulation of sequestering of triglyceride23028956
GO:0015914IDA-phospholipid transport26206935
GO:0030336IEA-negative regulation of cell migration-
GO:0032148ISS-activation of protein kinase B activity-
GO:0036150TAS-phosphatidylserine acyl-chain remodeling-
GO:0045444IDA-fat cell differentiation23028956
GO:0046628IEA-positive regulation of insulin receptor signaling pathway-
GO:0051897ISS-positive regulation of protein kinase B signaling-
GO:0090204IEA-protein localization to nuclear pore-
GO:2001275ISS-positive regulation of glucose import in response to insulin stimulus-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
OSBPL8SQSTM112538320562859 Affinity Capture-MS
OSBPL8SQSTM111439720562859 Affinity Capture-MS
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2443807
  • Data Attributes: MGI curated and 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