AutismKB 2.0

Annotation Details for KCNMB4


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Basic Information Top
Gene Symbol:KCNMB4 ( - )
Gene Full Name: potassium large conductance calcium-activated channel, subfamily M, beta member 4
Band: 12q15
Quick LinksEntrez ID:27345; OMIM: 605223; Uniprot ID:KCMB4_HUMAN; ENSEMBL ID: ENSG00000135643; HGNC ID: 6289
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005886TAS-plasma membrane-
GO:0005887IDA-integral component of plasma membrane10692449
GO:0008076IDA-voltage-gated potassium channel complex10692449
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding10692449
GO:0015269IDA-calcium-activated potassium channel activity10692449
GO:0015459IBA-potassium channel regulator activity-
GO ID Evidence Qualifier GO_term References
GO:0001508IDA-action potential10692449
GO:0005513IDA-detection of calcium ion10692449
GO:0006813IDA-potassium ion transport10692449
GO:0007268TAS-chemical synaptic transmission10692449
GO:0019228IDA-neuronal action potential10692449
GO:0019229TAS-regulation of vasoconstriction10692449
GO:0046928TAS-regulation of neurotransmitter secretion10692449
GO:0065009IEA-regulation of molecular function-
GO:0071805IEA-potassium ion transmembrane transport-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1913272
  • 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