Gene: UGGT2

Alternate names for this Gene: HUGT2|UGCGL2|UGT2

Gene Summary: UDP-glucose:glycoprotein glucosyltransferase (UGT) is a soluble protein of the endoplasmic reticulum (ER) that selectively reglucosylates unfolded glycoproteins, thus providing quality control for protein transport out of the ER.[supplied by OMIM, Oct 2009]. ##Evidence-Data-START## Transcript exon combination :: AF227906.2, SRR1660803.182716.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000376747.8/ ENSP00000365938.3 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END##

Gene is located in Chromosome: 13

Location in Chromosome : 13q32.1

Description of this Gene: UDP-glucose glycoprotein glucosyltransferase 2

Type of Gene: protein-coding

rs541811 in UGGT2 gene and Myocardial Infarction PMID 21211798 2011 Association of a polymorphism of BTN2A1 with myocardial infarction in East Asian populations.

rs8000018 in UGGT2 gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.