AutismKB 2.0

Annotation Details for STXBP6


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Basic Information Top
Gene Symbol:STXBP6 ( FLJ39638,amisyn )
Gene Full Name: syntaxin binding protein 6 (amisyn)
Band: 14q11.2
Quick LinksEntrez ID:29091; OMIM: 607958; Uniprot ID:STXB6_HUMAN; ENSEMBL ID: ENSG00000168952; HGNC ID: 19666
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0000145IBA-exocyst-
GO:0005886IBA-plasma membrane-
GO:0005913IDA-cell-cell adherens junction25468996
GO:0016021IEA-integral component of membrane-
GO ID Evidence Qualifier GO_term References
GO:0005546IBA-phosphatidylinositol-4,5-bisphosphate binding-
GO:0017049IBA-GTP-Rho binding-
GO:0098641IDA-cadherin binding involved in cell-cell adhesion25468996
GO ID Evidence Qualifier GO_term References
GO:0006893IBA-Golgi to plasma membrane transport-
GO:0035542IDA-regulation of SNARE complex assembly12145319
GO:0045920TAS-negative regulation of exocytosis15217342
GO:0051601IBA-exocyst localization-
GO:0098609IEA-cell-cell adhesion-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2384963
  • Data Attributes: MGI curated and HomoloGene calculated
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