ST3GAL5 Chromosome 2
ST3 beta-galactoside alpha-2,3-sialyltransferase 5
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What This Gene Does
Ganglioside GM3 is known to participate in the induction of cell differentiation, modulation of cell proliferation, maintenance of fibroblast morphology, signal transduction, and integrin-mediated cell adhesion. The protein encoded by this gene is a type II membrane protein which catalyzes the formation of GM3 using lactosylceramide as the substrate. The encoded protein is a member of glycosyltransferase family 29 and may be localized to the Golgi apparatus. Mutation in this gene has been associated with Amish infantile epilepsy syndrome. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Sialyltransferases
Locus Type
gene with protein product
Location
2p11.2
Ensembl
ENSG00000115525
Associated Conditions (5)
GM3 synthase deficiency
Inborn genetic diseases
ST3GAL5-related disorder
Intellectual disability
Gastric cancer
Key Variants
RS140019292
Conflicting classifications of pathogenicity
GM3 synthase deficiency, Inborn genetic diseases, GM3 synthase deficiency
Health Risk
RS140151286
Conflicting classifications of pathogenicity
GM3 synthase deficiency, GM3 synthase deficiency
Health Risk
RS141917910
Conflicting classifications of pathogenicity
GM3 synthase deficiency, ST3GAL5-related disorder, GM3 synthase deficiency
Health Risk
RS144270260
Conflicting classifications of pathogenicity
GM3 synthase deficiency, GM3 synthase deficiency
Health Risk
RS145738225
Conflicting classifications of pathogenicity
GM3 synthase deficiency, GM3 synthase deficiency
Health Risk
RS148195895
Conflicting classifications of pathogenicity
GM3 synthase deficiency, GM3 synthase deficiency
Health Risk
RS149801673
Conflicting classifications of pathogenicity
GM3 synthase deficiency, GM3 synthase deficiency
Health Risk
RS199590656
Conflicting classifications of pathogenicity
GM3 synthase deficiency, GM3 synthase deficiency
Health Risk
RS200683924
Conflicting classifications of pathogenicity
GM3 synthase deficiency, Inborn genetic diseases, GM3 synthase deficiency
Health Risk
RS377046345
Conflicting classifications of pathogenicity
GM3 synthase deficiency, Inborn genetic diseases, GM3 synthase deficiency
Health Risk
RS527286367
Conflicting classifications of pathogenicity
Health Risk
RS534438354
Conflicting classifications of pathogenicity
GM3 synthase deficiency, GM3 synthase deficiency
Health Risk
All Variants (63)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140019292 | Health Risk | Conflicting classifications of pathogenicity | GM3 synthase deficiency, Inborn genetic diseases, GM3 synthase deficiency |
| RS140151286 | Health Risk | Conflicting classifications of pathogenicity | GM3 synthase deficiency, GM3 synthase deficiency |
| RS141917910 | Health Risk | Conflicting classifications of pathogenicity | GM3 synthase deficiency, ST3GAL5-related disorder, GM3 synthase deficiency |
| RS144270260 | Health Risk | Conflicting classifications of pathogenicity | GM3 synthase deficiency, GM3 synthase deficiency |
| RS145738225 | Health Risk | Conflicting classifications of pathogenicity | GM3 synthase deficiency, GM3 synthase deficiency |
| RS148195895 | Health Risk | Conflicting classifications of pathogenicity | GM3 synthase deficiency, GM3 synthase deficiency |
| RS149801673 | Health Risk | Conflicting classifications of pathogenicity | GM3 synthase deficiency, GM3 synthase deficiency |
| RS199590656 | Health Risk | Conflicting classifications of pathogenicity | GM3 synthase deficiency, GM3 synthase deficiency |
| RS200683924 | Health Risk | Conflicting classifications of pathogenicity | GM3 synthase deficiency, Inborn genetic diseases, GM3 synthase deficiency |
| RS377046345 | Health Risk | Conflicting classifications of pathogenicity | GM3 synthase deficiency, Inborn genetic diseases, GM3 synthase deficiency |
| RS527286367 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS534438354 | Health Risk | Conflicting classifications of pathogenicity | GM3 synthase deficiency, GM3 synthase deficiency |
| RS534535305 | Health Risk | Conflicting classifications of pathogenicity | GM3 synthase deficiency, GM3 synthase deficiency |
| RS747318909 | Health Risk | Conflicting classifications of pathogenicity | GM3 synthase deficiency, Inborn genetic diseases, GM3 synthase deficiency |
| RS748173859 | Health Risk | Conflicting classifications of pathogenicity | GM3 synthase deficiency, Inborn genetic diseases, GM3 synthase deficiency |
| RS754152337 | Health Risk | Conflicting classifications of pathogenicity | GM3 synthase deficiency, GM3 synthase deficiency |
| RS758368552 | Health Risk | Conflicting classifications of pathogenicity | GM3 synthase deficiency, Inborn genetic diseases, GM3 synthase deficiency |
| RS768216151 | Health Risk | Conflicting classifications of pathogenicity | GM3 synthase deficiency, GM3 synthase deficiency |
| RS777319882 | Health Risk | Conflicting classifications of pathogenicity | GM3 synthase deficiency, GM3 synthase deficiency |
| RS878854615 | Health Risk | Conflicting classifications of pathogenicity | GM3 synthase deficiency, Inborn genetic diseases, GM3 synthase deficiency |
| RS952271385 | Health Risk | Conflicting classifications of pathogenicity | GM3 synthase deficiency, Inborn genetic diseases, GM3 synthase deficiency |
| RS1255058507 | Health Risk | Likely pathogenic | GM3 synthase deficiency, GM3 synthase deficiency |
| RS1269806627 | Health Risk | Likely pathogenic | GM3 synthase deficiency, GM3 synthase deficiency |
| RS1553405529 | Health Risk | Likely pathogenic | — |
| RS1573589807 | Health Risk | Likely pathogenic | GM3 synthase deficiency, Intellectual disability, GM3 synthase deficiency |
| RS2103936382 | Health Risk | Likely pathogenic | GM3 synthase deficiency, GM3 synthase deficiency |
| RS2104059095 | Health Risk | Likely pathogenic | GM3 synthase deficiency, GM3 synthase deficiency |
| RS549326241 | Health Risk | Likely pathogenic | GM3 synthase deficiency, Gastric cancer, GM3 synthase deficiency |
| RS104893668 | Health Risk | Pathogenic | GM3 synthase deficiency, ST3GAL5-related disorder, GM3 synthase deficiency |
| RS1221431599 | Health Risk | Pathogenic | GM3 synthase deficiency, GM3 synthase deficiency |
| RS1254694736 | Health Risk | Pathogenic | GM3 synthase deficiency, GM3 synthase deficiency |
| RS1423247945 | Health Risk | Pathogenic | GM3 synthase deficiency, GM3 synthase deficiency |
| RS1450189213 | Health Risk | Pathogenic | GM3 synthase deficiency, GM3 synthase deficiency |
| RS1475670133 | Health Risk | Pathogenic | GM3 synthase deficiency, GM3 synthase deficiency |
| RS1683042337 | Health Risk | Pathogenic | GM3 synthase deficiency, GM3 synthase deficiency |
| RS1683047204 | Health Risk | Pathogenic | GM3 synthase deficiency, GM3 synthase deficiency |
| RS1684687070 | Health Risk | Pathogenic | GM3 synthase deficiency, GM3 synthase deficiency |
| RS1684692369 | Health Risk | Pathogenic | GM3 synthase deficiency, GM3 synthase deficiency |
| RS1688068423 | Health Risk | Pathogenic | GM3 synthase deficiency, GM3 synthase deficiency |
| RS2103959087 | Health Risk | Pathogenic | GM3 synthase deficiency, GM3 synthase deficiency |
| RS2104282063 | Health Risk | Pathogenic | GM3 synthase deficiency, GM3 synthase deficiency |
| RS2104584644 | Health Risk | Pathogenic | GM3 synthase deficiency, GM3 synthase deficiency |
| RS2467045021 | Health Risk | Pathogenic | GM3 synthase deficiency, GM3 synthase deficiency |
| RS2467062259 | Health Risk | Pathogenic | GM3 synthase deficiency, GM3 synthase deficiency |
| RS2467079431 | Health Risk | Pathogenic | GM3 synthase deficiency, GM3 synthase deficiency |
| RS2467080147 | Health Risk | Pathogenic | GM3 synthase deficiency, GM3 synthase deficiency |
| RS2467352114 | Health Risk | Pathogenic | GM3 synthase deficiency, GM3 synthase deficiency |
| RS2467352953 | Health Risk | Pathogenic | GM3 synthase deficiency, GM3 synthase deficiency |
| RS368298013 | Health Risk | Pathogenic | GM3 synthase deficiency, GM3 synthase deficiency |
| RS748497823 | Health Risk | Pathogenic | GM3 synthase deficiency, GM3 synthase deficiency |