B3GLCT Chromosome 13
Beta 3-glucosyltransferase
Upload your DNA to see your personal genotypes for variants in B3GLCT.
What This Gene Does
The protein encoded by this gene is a beta-1,3-glucosyltransferase that transfers glucose to O-linked fucosylglycans on thrombospondin type-1 repeats (TSRs) of several proteins. The encoded protein is a type II membrane protein. Defects in this gene are a cause of Peters-plus syndrome (PPS).[provided by RefSeq, Mar 2009]
Gene Info
Gene Group
Beta 3-glycosyltransferases
Locus Type
gene with protein product
Location
13q12.3
Ensembl
ENSG00000187676
Associated Conditions (12)
Peters plus syndrome
B3GLCT-related disorder
Clear cell carcinoma of kidney
Melanoma
Familial cancer of breast
Cervical cancer
Inborn genetic diseases
See cases
Thyroid cancer
nonmedullary
1
Lung cancer
Key Variants
RS114425388
Conflicting classifications of pathogenicity
Peters plus syndrome, B3GLCT-related disorder, Peters plus syndrome
Health Risk
RS114941150
Conflicting classifications of pathogenicity
Peters plus syndrome, B3GLCT-related disorder, Clear cell carcinoma of kidney
Health Risk
RS1338898111
Conflicting classifications of pathogenicity
Peters plus syndrome, Peters plus syndrome
Health Risk
RS147485868
Conflicting classifications of pathogenicity
Peters plus syndrome, B3GLCT-related disorder, Peters plus syndrome
Health Risk
RS183322816
Conflicting classifications of pathogenicity
Peters plus syndrome, Peters plus syndrome
Health Risk
RS199615610
Conflicting classifications of pathogenicity
Peters plus syndrome, Peters plus syndrome
Health Risk
RS199794968
Conflicting classifications of pathogenicity
Peters plus syndrome, Peters plus syndrome
Health Risk
RS200460848
Conflicting classifications of pathogenicity
Peters plus syndrome, Peters plus syndrome
Health Risk
RS377657178
Conflicting classifications of pathogenicity
Peters plus syndrome, Peters plus syndrome
Health Risk
RS569540121
Conflicting classifications of pathogenicity
Peters plus syndrome, B3GLCT-related disorder, Peters plus syndrome
Health Risk
RS577136660
Conflicting classifications of pathogenicity
Peters plus syndrome, Inborn genetic diseases, Peters plus syndrome
Health Risk
RS751441354
Conflicting classifications of pathogenicity
Peters plus syndrome, Peters plus syndrome
Health Risk
All Variants (34)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS114425388 | Health Risk | Conflicting classifications of pathogenicity | Peters plus syndrome, B3GLCT-related disorder, Peters plus syndrome |
| RS114941150 | Health Risk | Conflicting classifications of pathogenicity | Peters plus syndrome, B3GLCT-related disorder, Clear cell carcinoma of kidney |
| RS1338898111 | Health Risk | Conflicting classifications of pathogenicity | Peters plus syndrome, Peters plus syndrome |
| RS147485868 | Health Risk | Conflicting classifications of pathogenicity | Peters plus syndrome, B3GLCT-related disorder, Peters plus syndrome |
| RS183322816 | Health Risk | Conflicting classifications of pathogenicity | Peters plus syndrome, Peters plus syndrome |
| RS199615610 | Health Risk | Conflicting classifications of pathogenicity | Peters plus syndrome, Peters plus syndrome |
| RS199794968 | Health Risk | Conflicting classifications of pathogenicity | Peters plus syndrome, Peters plus syndrome |
| RS200460848 | Health Risk | Conflicting classifications of pathogenicity | Peters plus syndrome, Peters plus syndrome |
| RS377657178 | Health Risk | Conflicting classifications of pathogenicity | Peters plus syndrome, Peters plus syndrome |
| RS569540121 | Health Risk | Conflicting classifications of pathogenicity | Peters plus syndrome, B3GLCT-related disorder, Peters plus syndrome |
| RS577136660 | Health Risk | Conflicting classifications of pathogenicity | Peters plus syndrome, Inborn genetic diseases, Peters plus syndrome |
| RS751441354 | Health Risk | Conflicting classifications of pathogenicity | Peters plus syndrome, Peters plus syndrome |
| RS753313963 | Health Risk | Conflicting classifications of pathogenicity | Peters plus syndrome, Peters plus syndrome |
| RS9542305 | Health Risk | Conflicting classifications of pathogenicity | Peters plus syndrome, Peters plus syndrome |
| RS1873228351 | Health Risk | Likely pathogenic | Peters plus syndrome, Peters plus syndrome |
| RS201584510 | Health Risk | Likely pathogenic | Peters plus syndrome, Peters plus syndrome |
| RS2137881468 | Health Risk | Likely pathogenic | — |
| RS2137936107 | Health Risk | Likely pathogenic | Peters plus syndrome, Peters plus syndrome |
| RS545753153 | Health Risk | Likely pathogenic | Peters plus syndrome, Peters plus syndrome |
| RS772504695 | Health Risk | Likely pathogenic | — |
| RS776180719 | Health Risk | Likely pathogenic | See cases, See cases |
| RS779992631 | Health Risk | Likely pathogenic | Peters plus syndrome, Peters plus syndrome |
| RS1593258510 | Health Risk | Pathogenic | Peters plus syndrome, Peters plus syndrome |
| RS1875117878 | Health Risk | Pathogenic | Peters plus syndrome, Peters plus syndrome |
| RS200408982 | Health Risk | Pathogenic | Peters plus syndrome, Peters plus syndrome |
| RS2137805318 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS267606675 | Health Risk | Pathogenic | Peters plus syndrome, Peters plus syndrome |
| RS371904655 | Health Risk | Pathogenic | — |
| RS759505367 | Health Risk | Pathogenic | Peters plus syndrome, Peters plus syndrome |
| RS794727108 | Health Risk | Pathogenic | — |
| RS80338850 | Health Risk | Pathogenic | Peters plus syndrome, Peters plus syndrome |
| RS80338851 | Health Risk | Pathogenic | Peters plus syndrome, B3GLCT-related disorder, Inborn genetic diseases |
| RS199908878 | Health Risk | Pathogenic/Likely pathogenic | Peters plus syndrome, B3GLCT-related disorder, Peters plus syndrome |
| RS767361165 | Health Risk | Pathogenic/Likely pathogenic | Peters plus syndrome, Inborn genetic diseases, Peters plus syndrome |