Gene: PALM2AKAP2

Alternate names for this Gene: AKAP-2|AKAP-KL|AKAP2|AKAPKL|MISP2|PALM2|PALM2-AKAP2|PRKA2

Gene Summary: This gene belongs to the paralemmin downstream gene (PDG) family defined in PMID:22855693. Paralemmin downstream genes may have evolved contiguously with the paralemmin genes and are associated with other paralemmin paralogs in humans and several other taxa. The gene encodes three distinct protein isoforms, the PALM2 isoform, the AKAP2 isoform and the PALM2-AKAP2 isoform. The biological significance of the PALM2-AKAP2 isoforms is yet unknown. Earlier, PALM2 and AKAP2 were annotated as separate genes and PALM2-AKAP2 was annotated as a readthrough gene.

Gene is located in Chromosome: 9

Location in Chromosome : 9q31.3

Description of this Gene: PALM2 and AKAP2 fusion

Type of Gene: protein-coding

rs13283845 in PALM2AKAP2 gene and Alzheimer's Disease PMID 23565137 2013 SORL1 is genetically associated with late-onset Alzheimer's disease in Japanese, Koreans and Caucasians.

rs1322278 in PALM2AKAP2 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs10816914 in PALM2AKAP2 gene and Cardiovascular Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs7043304 in PALM2AKAP2 gene and Diastolic blood pressure PMID 30224653 2018 Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.

rs1999004 in PALM2AKAP2 gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs7034315 in PALM2AKAP2 gene and Systolic Pressure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs7020604 in PALM2AKAP2 gene and Waist-Hip Ratio 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.

rs72754914 in PALM2AKAP2 gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.