TUSC3 Chromosome 8
Tumor suppressor candidate 3
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What This Gene Does
This gene encodes a protein that has been associated with several biological functions including cellular magnesium uptake, protein glycosylation and embryonic development. This protein localizes to the endoplasmic reticulum and acts as a component of the oligosaccharyl transferase complex which is responsible for N-linked protein glycosylation. This gene is a candidate tumor suppressor gene. Homozygous mutations in this gene are associated with autosomal recessive nonsyndromic mental retardation-7 and in the proliferation and invasiveness of several cancers including metastatic pancreatic cancer, ovarian cancer and glioblastoma multiform. [provided by RefSeq, Oct 2017]
Gene Info
Gene Group
"Oligosaccharyltransferase complex subunits|Solute carrier family 58"
Locus Type
gene with protein product
Location
8p22
Ensembl
ENSG00000104723
Associated Conditions (6)
Congenital disorder of glycosylation
Intellectual disability
autosomal recessive 7
Inborn genetic diseases
Abnormality of the nervous system
autosomal recessive 24
Key Variants
RS141748006
Conflicting classifications of pathogenicity
Congenital disorder of glycosylation, Congenital disorder of glycosylation
Health Risk
RS149033081
Conflicting classifications of pathogenicity
Congenital disorder of glycosylation, Intellectual disability, autosomal recessive 7
Health Risk
RS186717319
Conflicting classifications of pathogenicity
Congenital disorder of glycosylation, Intellectual disability, autosomal recessive 7
Health Risk
RS190430215
Conflicting classifications of pathogenicity
Congenital disorder of glycosylation, Congenital disorder of glycosylation
Health Risk
RS371128729
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 7, Intellectual disability
Health Risk
RS371792364
Conflicting classifications of pathogenicity
Congenital disorder of glycosylation, Intellectual disability, autosomal recessive 7
Health Risk
RS373581974
Conflicting classifications of pathogenicity
Health Risk
RS562496423
Conflicting classifications of pathogenicity
Congenital disorder of glycosylation, Congenital disorder of glycosylation
Health Risk
RS762831751
Conflicting classifications of pathogenicity
Congenital disorder of glycosylation, Congenital disorder of glycosylation
Health Risk
RS778366754
Conflicting classifications of pathogenicity
Inborn genetic diseases, Intellectual disability, autosomal recessive 7
Health Risk
RS781741877
Conflicting classifications of pathogenicity
Congenital disorder of glycosylation, Congenital disorder of glycosylation
Health Risk
RS1251881194
Likely pathogenic
Intellectual disability, autosomal recessive 7, Intellectual disability
Health Risk
All Variants (25)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS141748006 | Health Risk | Conflicting classifications of pathogenicity | Congenital disorder of glycosylation, Congenital disorder of glycosylation |
| RS149033081 | Health Risk | Conflicting classifications of pathogenicity | Congenital disorder of glycosylation, Intellectual disability, autosomal recessive 7 |
| RS186717319 | Health Risk | Conflicting classifications of pathogenicity | Congenital disorder of glycosylation, Intellectual disability, autosomal recessive 7 |
| RS190430215 | Health Risk | Conflicting classifications of pathogenicity | Congenital disorder of glycosylation, Congenital disorder of glycosylation |
| RS371128729 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 7, Intellectual disability |
| RS371792364 | Health Risk | Conflicting classifications of pathogenicity | Congenital disorder of glycosylation, Intellectual disability, autosomal recessive 7 |
| RS373581974 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS562496423 | Health Risk | Conflicting classifications of pathogenicity | Congenital disorder of glycosylation, Congenital disorder of glycosylation |
| RS762831751 | Health Risk | Conflicting classifications of pathogenicity | Congenital disorder of glycosylation, Congenital disorder of glycosylation |
| RS778366754 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Intellectual disability, autosomal recessive 7 |
| RS781741877 | Health Risk | Conflicting classifications of pathogenicity | Congenital disorder of glycosylation, Congenital disorder of glycosylation |
| RS1251881194 | Health Risk | Likely pathogenic | Intellectual disability, autosomal recessive 7, Intellectual disability |
| RS2129132478 | Health Risk | Likely pathogenic | Intellectual disability, autosomal recessive 7, Intellectual disability |
| RS2129179995 | Health Risk | Likely pathogenic | Intellectual disability, autosomal recessive 7, Intellectual disability |
| RS2486222306 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2486376936 | Health Risk | Likely pathogenic | Intellectual disability, autosomal recessive 7, Intellectual disability |
| RS387906804 | Health Risk | Likely pathogenic | Intellectual disability, autosomal recessive 7, Abnormality of the nervous system |
| RS773936260 | Health Risk | Likely pathogenic | Intellectual disability, Intellectual disability |
| RS1554461593 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 7, Intellectual disability |
| RS1554486894 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 7, Intellectual disability |
| RS1585215916 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 7, Intellectual disability |
| RS1807331250 | Health Risk | Pathogenic | Inborn genetic diseases, Intellectual disability, autosomal recessive 7 |
| RS773426468 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 7, Intellectual disability |
| RS777068372 | Health Risk | Pathogenic | — |
| RS200667343 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal recessive 7, autosomal recessive 24 |