Gene: PIGC

Alternate names for this Gene: GPI2|GPIBD16|MRT62

Gene Summary: This gene encodes an endoplasmic reticulum associated protein that is involved in glycosylphosphatidylinositol (GPI) lipid anchor biosynthesis. The GPI lipid anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. The encoded protein is one subunit of the GPI N-acetylglucosaminyl (GlcNAc) transferase that transfers GlcNAc to phosphatidylinositol (PI) on the cytoplasmic side of the endoplasmic reticulum. Two alternatively spliced transcripts that encode the same protein have been found for this gene. A pseudogene on chromosome 11 has also been characterized.

Gene is located in Chromosome: 1

Location in Chromosome : 1q24.3

Description of this Gene: phosphatidylinositol glycan anchor biosynthesis class C

Type of Gene: protein-coding

Gene: DNM3

Alternate names for this Gene: Dyna III

Gene Summary: This gene encodes a member of a family of guanosine triphosphate (GTP)-binding proteins that associate with microtubules and are involved in vesicular transport. The encoded protein functions in the development of megakaryocytes. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 1

Location in Chromosome : 1q24.3

Description of this Gene: dynamin 3

Type of Gene: protein-coding

rs12405515 in PIGC;DNM3 gene and Diastolic blood pressure PMID 27841878 2017 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

PMID 28135244 2017 Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk.

rs12132562 in PIGC;DNM3 gene and QT interval feature (observable entity) PMID 27958378 2018 Large-scale pharmacogenomic study of sulfonylureas and the QT, JT and QRS intervals: CHARGE Pharmacogenomics Working Group.

rs12405515 in PIGC;DNM3 gene and Systolic Pressure PMID 27841878 2017 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

rs12138803 in PIGC;DNM3 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.