SLC35A2 Chromosome X
Solute carrier family 35 member A2
Upload your DNA to see your personal genotypes for variants in SLC35A2.
What This Gene Does
This gene encodes a member of the nucleotide-sugar transporter family. The encoded protein is a multi-pass membrane protein. It transports UDP-galactose from the cytosol into Golgi vesicles, where it serves as a glycosyl donor for the generation of glycans. Mutations in this gene cause congenital disorder of glycosylation type IIm (CDG2M). Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Oct 2014]
Gene Info
Gene Group
Solute carrier family 35
Locus Type
gene with protein product
Location
Xp11.23
Ensembl
ENSG00000102100
Associated Conditions (7)
SLC35A2-congenital disorder of glycosylation
Lung cancer
Inborn genetic diseases
SLC35A2-related disorder
Epileptic encephalopathy
non-lesional focal epilepsy
Congenital disorder of glycosylation
Key Variants
RS1023107993
Conflicting classifications of pathogenicity
SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation
Health Risk
RS1060503677
Conflicting classifications of pathogenicity
SLC35A2-congenital disorder of glycosylation, Lung cancer, SLC35A2-congenital disorder of glycosylation
Health Risk
RS1283637638
Conflicting classifications of pathogenicity
SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation
Health Risk
RS1443492116
Conflicting classifications of pathogenicity
SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation
Health Risk
RS151120284
Conflicting classifications of pathogenicity
SLC35A2-congenital disorder of glycosylation, Inborn genetic diseases, SLC35A2-congenital disorder of glycosylation
Health Risk
RS1557042798
Conflicting classifications of pathogenicity
SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation
Health Risk
RS1557043621
Conflicting classifications of pathogenicity
SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation
Health Risk
RS1557043678
Conflicting classifications of pathogenicity
SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation
Health Risk
RS202215716
Conflicting classifications of pathogenicity
SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation
Health Risk
RS2063479133
Conflicting classifications of pathogenicity
SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation
Health Risk
RS2147487234
Conflicting classifications of pathogenicity
SLC35A2-congenital disorder of glycosylation, SLC35A2-related disorder, SLC35A2-congenital disorder of glycosylation
Health Risk
RS373788556
Conflicting classifications of pathogenicity
SLC35A2-congenital disorder of glycosylation, Inborn genetic diseases, SLC35A2-congenital disorder of glycosylation
Health Risk
All Variants (69)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2063479086 | Health Risk | Pathogenic | SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation |
| RS2063491273 | Health Risk | Pathogenic | SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation |
| RS2147486684 | Health Risk | Pathogenic | SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation |
| RS2147487028 | Health Risk | Pathogenic | SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation |
| RS2147487247 | Health Risk | Pathogenic | SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation |
| RS2147489491 | Health Risk | Pathogenic | SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation |
| RS2147489558 | Health Risk | Pathogenic | SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation |
| RS2147489736 | Health Risk | Pathogenic | SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation |
| RS2147496735 | Health Risk | Pathogenic | SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation |
| RS2519644564 | Health Risk | Pathogenic | SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation |
| RS2519645163 | Health Risk | Pathogenic | SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation |
| RS2519667319 | Health Risk | Pathogenic | SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation |
| RS587776961 | Health Risk | Pathogenic | SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation |
| RS587776962 | Health Risk | Pathogenic | SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation |
| RS587777434 | Health Risk | Pathogenic | SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation |
| RS587777435 | Health Risk | Pathogenic | SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation |
| RS587777436 | Health Risk | Pathogenic | SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation |
| RS868941656 | Health Risk | Pathogenic | SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation |
| RS1557042808 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, SLC35A2-congenital disorder of glycosylation, Inborn genetic diseases |