Gene: AKAP6

Alternate names for this Gene: ADAP100|ADAP6|AKAP100|PRKA6|mAKAP

Gene Summary: The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is highly expressed in various brain regions and cardiac and skeletal muscle. It is specifically localized to the sarcoplasmic reticulum and nuclear membrane, and is involved in anchoring PKA to the nuclear membrane or sarcoplasmic reticulum.

Gene is located in Chromosome: 14

Location in Chromosome : 14q12

Description of this Gene: A-kinase anchoring protein 6

Type of Gene: protein-coding

rs3784169 in AKAP6 gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs17441370 in AKAP6 gene and Asthma PMID 23181788 2012 HLA-DQ strikes again: genome-wide association study further confirms HLA-DQ in the diagnosis of asthma among adults.

rs11156751 in AKAP6 gene and Atrial Fibrillation PMID 30061737 2018 Biobank-driven genomic discovery yields new insight into atrial fibrillation biology.

PMID 29892015 2018 Multi-ethnic genome-wide association study for atrial fibrillation.

rs11850550 in AKAP6 gene and Autosomal dominant compelling helio ophthalmic outburst syndrome PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.

rs142370491 in AKAP6 gene and Bipolar Disorder PMID 31043756 2019 Genome-wide association study identifies 30 loci associated with bipolar disorder.

rs1051695 in AKAP6 gene and Body mass index PMID 29273807 2018 Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.

PMID 28892062 2017 Genome-wide association study identifies 112 new loci for body mass index in the Japanese population.

PMID 26426971 2015 The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study.

PMID 28448500 2017 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.

PMID 30108127 2018 A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci.

PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 22581228 2012 A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.

rs2300835 in AKAP6 gene and Body mass index procedure PMID 22581228 2012 A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.

rs10131032 in AKAP6 gene and Central Nervous System Neoplasms PMID 28346443 2017 Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors.

rs1279143 in AKAP6 gene and Creatine kinase measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs2300835 in AKAP6 gene and Finding of body mass index PMID 22581228 2012 A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.

rs10131032 in AKAP6 gene and Glioma PMID 28346443 2017 Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors.

rs10133551 in AKAP6 gene and Intelligence PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

PMID 29326435 2019 A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence.

PMID 29942086 2018 Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence.

PMID 25644384 2015 Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53949).

PMID 31374203 2019 Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways.

rs8020364 in AKAP6 gene and Narcolepsy PMID 19629137 2009 Genome-wide association database developed in the Japanese Integrated Database Project.

rs17522122 in AKAP6 gene and Physical Activity Measurement PMID 28448500 2017 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.

rs3784169 in AKAP6 gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs12883788 in AKAP6 gene and Schizophrenia PMID 26198764 2015 Genome-wide association study of schizophrenia in Ashkenazi Jews.

PMID 31374203 2019 Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways.

PMID 30285260 2019 Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect.

PMID 28991256 2017 Genome-wide association analysis identifies 30 new susceptibility loci for schizophrenia.

rs2239647 in AKAP6 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.