Gene: AK5

Alternate names for this Gene: AK6

Gene Summary: This gene encodes a member of the adenylate kinase family, which is involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. This member is related to the UMP/CMP kinase of several species. It is located in the cytosol and expressed exclusively in brain. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene.

Gene is located in Chromosome: 1

Location in Chromosome : 1p31.1

Description of this Gene: adenylate kinase 5

Type of Gene: protein-coding

rs71658797 in AK5 gene and Adenocarcinoma of lung (disorder) PMID 28604730 2017 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes.

rs2004962 in AK5 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.

rs11162351 in AK5 gene and Albuminuria PMID 30220432 2018 Genetic Association of Albuminuria with Cardiometabolic Disease and Blood Pressure.

rs12049202 in AK5 gene and Body mass index PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

rs71658797 in AK5 gene and Carcinoma of lung PMID 28604730 2017 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes.

rs12754946 in AK5 gene and Depressed bipolar I disorder PMID 31043756 2019 Genome-wide association study identifies 30 loci associated with bipolar disorder.

rs7536433 in AK5 gene and Glomerular Filtration Rate PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

rs7517698 in AK5 gene and Multiple Sclerosis PMID 17660530 2007 Risk alleles for multiple sclerosis identified by a genomewide study.

rs6695572 in AK5 gene and Narcolepsy PMID 19629137 2009 Genome-wide association database developed in the Japanese Integrated Database Project.

rs2004962 in AK5 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.

rs71658797 in AK5 gene and body fat percentage (physical finding) PMID 30593698 2019 Genomics of body fat percentage may contribute to sex bias in anorexia nervosa.