Gene: ST6GALNAC3

Alternate names for this Gene: PRO7177|SIAT7C|ST6GALNACIII|STY

Gene Summary: ST6GALNAC3 belongs to a family of sialyltransferases that transfer sialic acids from CMP-sialic acid to terminal positions of carbohydrate groups in glycoproteins and glycolipids (Lee et al., 1999 [PubMed 10207017]).[supplied by OMIM, Mar 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. ##Evidence-Data-START## Transcript exon combination :: SRR1803616.246011.1, SRR1803611.83097.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000328299.4/ ENSP00000329214.3 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END##

Gene is located in Chromosome: 1

Location in Chromosome : 1p31.1

Description of this Gene: ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 3

Type of Gene: protein-coding

rs915404 in ST6GALNAC3 gene and Adiponectin Measurement PMID 20887962 2010 Adiponectin concentrations: a genome-wide association study.

rs10782606 in ST6GALNAC3 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.

rs4949718 in ST6GALNAC3 gene and Alanine aminotransferase measurement PMID 24124411 2013 Genome-wide association study of liver enzymes in korean children.

rs4949718 in ST6GALNAC3 gene and Aspartate aminotransferase measurement PMID 24124411 2013 Genome-wide association study of liver enzymes in korean children.

rs2631781 in ST6GALNAC3 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 28736931 2018 Genetic Variants in HSD17B3, SMAD3, and IPO11 Impact Circulating Lipids in Response to Fenofibrate in Individuals With Type 2 Diabetes.

rs10782606 in ST6GALNAC3 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.

rs4949718 in ST6GALNAC3 gene and Serum Alanine Aminotransferase Measurement PMID 24124411 2013 Genome-wide association study of liver enzymes in korean children.

rs2631781 in ST6GALNAC3 gene and response to simvastatin PMID 28736931 2018 Genetic Variants in HSD17B3, SMAD3, and IPO11 Impact Circulating Lipids in Response to Fenofibrate in Individuals With Type 2 Diabetes.