Gene: VAC14

Alternate names for this Gene: ArPIKfyve|TAX1BP2|TRX

Gene Summary: This gene encodes a scaffold protein that is a component of the PIKfyve protein kinase complex. This complex is responsible for the synthesis of phosphatidylinositol 3,5-bisphosphate, an important component of cellular membranes, from phosphatidylinositol 3-phosphate. Mice lacking a functional copy of this gene exhibit severe neurodegeneration. Mutations in the human gene have been identified in patients with a childhood onset progressive neurological disorder characterized by impaired movement, dystonia, and striatal abnormalities.

Gene is located in Chromosome: 16

Location in Chromosome : 16q22.1-q22.2

Description of this Gene: VAC14 component of PIKFYVE complex

Type of Gene: protein-coding

rs139309976 in VAC14 gene and Age at menarche PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs11640251 in VAC14 gene and Diffuse Scleroderma PMID 29293537 2018 Gene-level association analysis of systemic sclerosis: A comparison of African-Americans and White populations.

rs4985368 in VAC14 gene and Intelligence PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

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

rs875858 in VAC14 gene and Malignant neoplasm of other and unspecified sites PMID 27143689 2016 Pharmacogenetic Discovery in CALGB (Alliance) 90401 and Mechanistic Validation of a VAC14 Polymorphism that Increases Risk of Docetaxel-Induced Neuropathy.

rs875858 in VAC14 gene and Metastatic Prostate Carcinoma PMID 27143689 2016 Pharmacogenetic Discovery in CALGB (Alliance) 90401 and Mechanistic Validation of a VAC14 Polymorphism that Increases Risk of Docetaxel-Induced Neuropathy.

rs875858 in VAC14 gene and Neuropathy PMID 27143689 2016 Pharmacogenetic Discovery in CALGB (Alliance) 90401 and Mechanistic Validation of a VAC14 Polymorphism that Increases Risk of Docetaxel-Induced Neuropathy.

rs62047964 in VAC14 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs749094914 in VAC14 gene and STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET PMID 27292112 2016 Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease.

rs4985417 in VAC14 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.