AutismKB 2.0

Annotation Details for KCNA5


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Basic Information Top
Gene Symbol:KCNA5 ( ATFB7,HCK1,HK2,HPCN1,KV1.5,MGC117058,MGC117059,PCN1 )
Gene Full Name: potassium voltage-gated channel, shaker-related subfamily, member 5
Band: 12p13.32
Quick LinksEntrez ID:3741; OMIM: 176267; Uniprot ID:KCNA5_HUMAN; ENSEMBL ID: ENSG00000130037; HGNC ID: 6224
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005783IEA-endoplasmic reticulum-
GO:0005794IDA-Golgi apparatus16780588
GO:0005886IDA-plasma membrane7615797
GO:0005886TAS-plasma membrane-
GO:0005887IDA-integral component of plasma membrane12130714
GO:0005901TAScolocalizes_withcaveola17060380
GO:0008076IDA-voltage-gated potassium channel complex1986382
GO:0014704IDA-intercalated disc7615797
GO:0030018IEA-Z disc-
GO:0034705IDA-potassium channel complex12130714
GO:0045121IDA-membrane raft18218624
GO:0046691IEA-intracellular canaliculus-
GO:0048471IEA-perinuclear region of cytoplasm-
GO ID Evidence Qualifier GO_term References
GO:0005102IEA-receptor binding-
GO:0005251IDA-delayed rectifier potassium channel activity1986382
GO:0005251IMP-delayed rectifier potassium channel activity19343045
GO:0005515IPI-protein binding10812072
GO:0015271IDA-outward rectifier potassium channel activity12970345
GO:0015271IMP-outward rectifier potassium channel activity16236819
GO:0019870IEA-potassium channel inhibitor activity-
GO:0019901IPI-protein kinase binding8953041
GO:0051393IPI-alpha-actinin binding10812072
GO:0086087IMP-voltage-gated potassium channel activity involved in bundle of His cell action potential repolarization23264583
GO:0086089IMP-voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization19343045
GO:0086090IMP-voltage-gated potassium channel activity involved in SA node cell action potential repolarization19343045
GO:0097110IPI-scaffold protein binding12970345
GO ID Evidence Qualifier GO_term References
GO:0001666IEA-response to hypoxia-
GO:0006813IDA-potassium ion transport8576199
GO:0007219IEA-Notch signaling pathway-
GO:0009612IEA-response to mechanical stimulus-
GO:0010033IEA-response to organic substance-
GO:0019229IEA-regulation of vasoconstriction-
GO:0042391IDA-regulation of membrane potential1986382
GO:0042542IEA-response to hydrogen peroxide-
GO:0043266IMP-regulation of potassium ion transport12021261
GO:0043267IEA-negative regulation of potassium ion transport-
GO:0050796TAS-regulation of insulin secretion1986382
GO:0051260IEA-protein homooligomerization-
GO:0051481IEA-negative regulation of cytosolic calcium ion concentration-
GO:0055075IEA-potassium ion homeostasis-
GO:0055093IEA-response to hyperoxia-
GO:0060081IMP-membrane hyperpolarization16236819
GO:0060372IMP-regulation of atrial cardiac muscle cell membrane repolarization19343045
GO:0065009IEA-regulation of molecular function-
GO:0071435IDA-potassium ion export1986382
GO:0071435IMP-potassium ion export16236819
GO:0071805IDA-potassium ion transmembrane transport12130714
GO:0086014IMP-atrial cardiac muscle cell action potential19343045
GO:0086050IMP-membrane repolarization during bundle of His cell action potential23264583
GO:0086052IMP-membrane repolarization during SA node cell action potential19343045
GO:0086091IMP-regulation of heart rate by cardiac conduction19343045
GO:0098914IMP-membrane repolarization during atrial cardiac muscle cell action potential19343045
GO:1900087IEA-positive regulation of G1/S transition of mitotic cell cycle-
GO:2000288IEA-positive regulation of myoblast proliferation-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
KCNA5ACTN210994310812072 12860415 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
KCNA5ACTN210660310812072 12860415 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
KCNA5DLG110994312970345 Affinity Capture-Western
KCNA5DLG110808312970345 Affinity Capture-Western
KCNA5DLG410994312435606 12860415 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
KCNA5DLG410808612435606 12860415 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
KCNA5KCNA210994012815189 Affinity Capture-Western
KCNA5KCNA210994312815189 Affinity Capture-Western
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:96662
  • 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


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