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.