Gene: ITPK1

Alternate names for this Gene: ITRPK1

Gene Summary: This gene encodes an enzyme that belongs to the inositol 1,3,4-trisphosphate 5/6-kinase family. This enzyme regulates the synthesis of inositol tetraphosphate, and downstream products, inositol pentakisphosphate and inositol hexakisphosphate. Inositol metabolism plays a role in the development of the neural tube. Disruptions in this gene are thought to be associated with neural tube defects. A pseudogene of this gene has been identified on chromosome X.

Gene is located in Chromosome: 14

Location in Chromosome : 14q32.12

Description of this Gene: inositol-tetrakisphosphate 1-kinase

Type of Gene: protein-coding

rs2180369 in ITPK1 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.

rs4905014 in ITPK1 gene and Atrial Fibrillation PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

rs7156335 in ITPK1 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

rs4905014 in ITPK1 gene and Body mass index PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

rs4905014 in ITPK1 gene and Cerebrovascular accident PMID 27790247 2016 Our follow-up analyses show that rs7632505, rs4905014, and rs8082812 have age-dependent effects on coronary heart disease or stroke.

rs35584079 in ITPK1 gene and Chronic Obstructive Airway Disease PMID 30804561 2019 Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations.

rs4905014 in ITPK1 gene and Coronary heart disease PMID 27790247 2016 Our follow-up analyses show that rs7632505, rs4905014, and rs8082812 have age-dependent effects on coronary heart disease or stroke.

rs4905014 in ITPK1 gene and Diabetes PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

rs4905014 in ITPK1 gene and Diabetes Mellitus PMID 27790247 2016 Specifically, from Group 2, we find rs7632505 on 3q21.1 in <i>SEMA5B</i>, rs460976 on 21q22.3 (1 kb from <i>TMPRSS2</i>) and rs12420422 on 11q24.1 predominantly associated with a variety of CVDs, rs4905014 in <i>ITPK1</i> associated with stroke and heart failure, rs7081476 on 10p12.1 in <i>ANKRD26</i> associated with multiple diseases including DM, CVDs, and NDs.

rs4905014 in ITPK1 gene and Diastolic blood pressure PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

rs4905014 in ITPK1 gene and Glucose measurement PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

rs4905014 in ITPK1 gene and Heart failure PMID 27790247 2016 Specifically, from Group 2, we find rs7632505 on 3q21.1 in <i>SEMA5B</i>, rs460976 on 21q22.3 (1 kb from <i>TMPRSS2</i>) and rs12420422 on 11q24.1 predominantly associated with a variety of CVDs, rs4905014 in <i>ITPK1</i> associated with stroke and heart failure, rs7081476 on 10p12.1 in <i>ANKRD26</i> associated with multiple diseases including DM, CVDs, and NDs.

rs4905014 in ITPK1 gene and Hematocrit procedure PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

rs4905014 in ITPK1 gene and High density lipoprotein measurement PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

rs2281513 in ITPK1 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.

rs4905014 in ITPK1 gene and Malignant Neoplasms PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

rs2295394 in ITPK1 gene and Myocardial Infarction PMID 21211798 2011 Association of a polymorphism of BTN2A1 with myocardial infarction in East Asian populations.

rs8006385 in ITPK1 gene and Platelet Count measurement PMID 22139419 2011 New gene functions in megakaryopoiesis and platelet formation.

rs2180369 in ITPK1 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.

rs4905014 in ITPK1 gene and Serum total cholesterol measurement PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

rs4905014 in ITPK1 gene and Systolic Pressure PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

rs4905014 in ITPK1 gene and Triglycerides measurement PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

rs36084521 in ITPK1 gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs4905014 in ITPK1 gene and elevated blood glucose level PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.