AutismKB 2.0

Annotation Details for NBEAL2


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Basic Information Top
Gene Symbol:NBEAL2 ( KIAA0540 )
Gene Full Name: neurobeachin-like 2
Band: 3p21.31
Quick LinksEntrez ID:23218; OMIM: NA; Uniprot ID:NBEL2_HUMAN; ENSEMBL ID: ENSG00000160796; HGNC ID: 31928
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005783IDA-endoplasmic reticulum21765412
GO:0005886TAS-plasma membrane-
GO:0070821TAS-tertiary granule membrane-
GO:0101003TAS-ficolin-1-rich granule membrane-
No data
GO ID Evidence Qualifier GO_term References
GO:0030220IMP-platelet formation21765411
GO:0043312TAS-neutrophil degranulation-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2448554
  • 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