AutismKB 2.0

Annotation Details for PHKA2


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Basic Information Top
Gene Symbol:PHKA2 ( GSD9A,MGC133071,PHK,PYK,PYKL,XLG,XLG2 )
Gene Full Name: phosphorylase kinase, alpha 2 (liver)
Band: Xp22.13
Quick LinksEntrez ID:5256; OMIM: 300798; Uniprot ID:KPB2_HUMAN; ENSEMBL ID: ENSG00000044446; HGNC ID: 8926
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005829TAS-cytosol-
GO:0005886IEA-plasma membrane-
GO:0005964TAS-phosphorylase kinase complex7549948
GO ID Evidence Qualifier GO_term References
GO:0004689TAS-phosphorylase kinase activity7549948
GO:0005515IPI-protein binding23455922
GO:0005516IEA-calmodulin binding-
GO ID Evidence Qualifier GO_term References
GO:0005975TAS-carbohydrate metabolic process7549948
GO:0005980TAS-glycogen catabolic process-
GO:0006091TAS-generation of precursor metabolites and energy7549948
GO:0006464TAS-cellular protein modification process7549948
GO:0006468IEA-protein phosphorylation-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
RAF1PHKA211127412620389 Two-hybrid
RAF1PHKA211183112620389 Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:97577
  • 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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