AutismKB 2.0

Annotation Details for LRRC8B


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Basic Information Top
Gene Symbol:LRRC8B ( KIAA0231,MGC42220,TA-LRRP,TALRRP )
Gene Full Name: leucine rich repeat containing 8 family, member B
Band: 1p22.2
Quick LinksEntrez ID:23507; OMIM: 612888; Uniprot ID:LRC8B_HUMAN; ENSEMBL ID: ENSG00000197147; HGNC ID: 30692
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005737IDA-cytoplasm24790029
GO:0005789IEA-endoplasmic reticulum membrane-
GO:0005886IDA-plasma membrane24790029
GO:0005886TAS-plasma membrane-
GO:0034702IBA-ion channel complex-
GO ID Evidence Qualifier GO_term References
GO:0005225IBA-volume-sensitive anion channel activity-
GO:0005225TAS-volume-sensitive anion channel activity-
GO:0005515IPI-protein binding24790029
GO ID Evidence Qualifier GO_term References
GO:0007165IBA-signal transduction-
GO:0044070IEA-regulation of anion transport-
GO:0055085TAS-transmembrane transport-
GO:0098656IMP-anion transmembrane transport24790029
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2141353
  • 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