AutismKB 2.0

Annotation Details for AKAP6


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Basic Information Top
Gene Symbol:AKAP6 ( ADAP100,ADAP6,AKAP100,KIAA0311,MGC165020,PRKA6,mAKAP )
Gene Full Name: A kinase (PRKA) anchor protein 6
Band: 14q12
Quick LinksEntrez ID:9472; OMIM: 604691; Uniprot ID:AKAP6_HUMAN; ENSEMBL ID: ENSG00000151320; HGNC ID: 376
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005635IDA-nuclear envelope10413680
GO:0005737ISS-cytoplasm-
GO:0005901ISS-caveola-
GO:0014701ISS-junctional sarcoplasmic reticulum membrane-
GO:0014704ISS-intercalated disc9679148
GO:0016529IDA-sarcoplasmic reticulum7721854
GO:0030315ISS-T-tubule9679148
GO:0031965IEA-nuclear membrane-
GO:0034704IDA-calcium channel complex10830164
GO:0048471IDA-perinuclear region of cytoplasm11590243
GO:0048471ISS-perinuclear region of cytoplasm-
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding17923693
GO:0008179ISS-adenylate cyclase binding-
GO:0032947ISS-protein complex scaffold-
GO:0034237ISS-protein kinase A regulatory subunit binding-
GO:0043495ISS-protein anchor10413680
GO:0044325IPI-ion channel binding10830164
GO:0051018NAS-protein kinase A binding10413680
GO:0051018TAS-protein kinase A binding10830164
GO ID Evidence Qualifier GO_term References
GO:0001508IC-action potential11299204
GO:0006605NAS-protein targeting7721854
GO:0010738ISS-regulation of protein kinase A signaling-
GO:0010880IC-regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum-
GO:0019933NAS-cAMP-mediated signaling16177794
GO:0030307ISS-positive regulation of cell growth16177794
GO:0030818ISS-negative regulation of cAMP biosynthetic process-
GO:0032516ISS-positive regulation of phosphoprotein phosphatase activity-
GO:0051281ISS-positive regulation of release of sequestered calcium ion into cytosol-
GO:0051533ISS-positive regulation of NFAT protein import into nucleus-
GO:0060306IDA-regulation of membrane repolarization11299204
GO:0060316ISS-positive regulation of ryanodine-sensitive calcium-release channel activity-
GO:0061051ISS-positive regulation of cell growth involved in cardiac muscle cell development-
GO:0070886ISS-positive regulation of calcineurin-NFAT signaling cascade-
GO:0071320IDA-cellular response to cAMP11299204
GO:0071345ISS-cellular response to cytokine stimulus16177794
GO:1901381IDA-positive regulation of potassium ion transmembrane transport11299204
GO:1902261IDA-positive regulation of delayed rectifier potassium channel activity11299204
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
AKAP6PDE4A11116711296225 Affinity Capture-Western
AKAP6PDE4A11485711296225 Affinity Capture-Western
AKAP6PDE4D11117011296225 Affinity Capture-Western
AKAP6PDE4D11485711296225 Affinity Capture-Western
AKAP6PRKAR2A11156212672969 Protein-peptide
AKAP6PRKAR2A11485712672969 Protein-peptide
AKAP6RYR211217410830164 11352932 Co-fractionation; Reconstituted Complex
AKAP6RYR211485710830164 11352932 Co-fractionation; Reconstituted Complex
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:3050566
  • 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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