EXT2 Chromosome 11
Exostosin glycosyltransferase 2
Upload your DNA to see your personal genotypes for variants in EXT2.
What This Gene Does
This gene encodes one of two glycosyltransferases involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type II form of multiple exostoses. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Exostosin glycosyltransferase family
Locus Type
gene with protein product
Location
11p11.2
Ensembl
ENSG00000151348
Associated Conditions (24)
Exostoses
multiple
type 2
EXT2-related disorder
Seizures-scoliosis-macrocephaly syndrome
Colorectal cancer
Thymoma
Melanoma
Malignant tumor of esophagus
Clear cell carcinoma of kidney
Cervical cancer
Uveal melanoma
Nonpapillary renal cell carcinoma
type 1
Inborn genetic diseases
Multiple congenital exostosis
Ovarian cancer
Mesothelioma
Hepatoblastoma
Ovarian serous cystadenocarcinoma
+4 more conditions
Key Variants
RS1038984851
Conflicting classifications of pathogenicity
Exostoses, multiple, type 2
Health Risk
RS111589746
Conflicting classifications of pathogenicity
Exostoses, multiple, type 2
Health Risk
RS1343630556
Conflicting classifications of pathogenicity
Exostoses, multiple, type 2
Health Risk
RS138187791
Conflicting classifications of pathogenicity
Seizures-scoliosis-macrocephaly syndrome, Exostoses, multiple
Health Risk
RS138495222
Conflicting classifications of pathogenicity
Exostoses, multiple, type 2
Health Risk
RS138722406
Conflicting classifications of pathogenicity
Seizures-scoliosis-macrocephaly syndrome, Exostoses, multiple
Health Risk
RS138943091
Conflicting classifications of pathogenicity
Exostoses, multiple, type 2
Health Risk
RS139525250
Conflicting classifications of pathogenicity
Exostoses, multiple, type 2
Health Risk
RS140075817
Conflicting classifications of pathogenicity
Exostoses, multiple, type 2
Health Risk
RS140561784
Conflicting classifications of pathogenicity
Exostoses, multiple, type 2
Health Risk
RS141035971
Conflicting classifications of pathogenicity
Exostoses, multiple, type 2
Health Risk
RS142565472
Conflicting classifications of pathogenicity
Exostoses, multiple, type 2
Health Risk
All Variants (207)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1038984851 | Health Risk | Conflicting classifications of pathogenicity | Exostoses, multiple, type 2 |
| RS111589746 | Health Risk | Conflicting classifications of pathogenicity | Exostoses, multiple, type 2 |
| RS1343630556 | Health Risk | Conflicting classifications of pathogenicity | Exostoses, multiple, type 2 |
| RS138187791 | Health Risk | Conflicting classifications of pathogenicity | Seizures-scoliosis-macrocephaly syndrome, Exostoses, multiple |
| RS138495222 | Health Risk | Conflicting classifications of pathogenicity | Exostoses, multiple, type 2 |
| RS138722406 | Health Risk | Conflicting classifications of pathogenicity | Seizures-scoliosis-macrocephaly syndrome, Exostoses, multiple |
| RS138943091 | Health Risk | Conflicting classifications of pathogenicity | Exostoses, multiple, type 2 |
| RS139525250 | Health Risk | Conflicting classifications of pathogenicity | Exostoses, multiple, type 2 |
| RS140075817 | Health Risk | Conflicting classifications of pathogenicity | Exostoses, multiple, type 2 |
| RS140561784 | Health Risk | Conflicting classifications of pathogenicity | Exostoses, multiple, type 2 |
| RS141035971 | Health Risk | Conflicting classifications of pathogenicity | Exostoses, multiple, type 2 |
| RS142565472 | Health Risk | Conflicting classifications of pathogenicity | Exostoses, multiple, type 2 |
| RS143703574 | Health Risk | Conflicting classifications of pathogenicity | Exostoses, multiple, type 2 |
| RS145024832 | Health Risk | Conflicting classifications of pathogenicity | Exostoses, multiple, type 2 |
| RS145903120 | Health Risk | Conflicting classifications of pathogenicity | Exostoses, multiple, type 2 |
| RS147753803 | Health Risk | Conflicting classifications of pathogenicity | Exostoses, multiple, type 2 |
| RS148711133 | Health Risk | Conflicting classifications of pathogenicity | Exostoses, multiple, type 2 |
| RS149727518 | Health Risk | Conflicting classifications of pathogenicity | Exostoses, multiple, type 2 |
| RS151291188 | Health Risk | Conflicting classifications of pathogenicity | Exostoses, multiple, type 2 |
| RS1590547374 | Health Risk | Conflicting classifications of pathogenicity | Exostoses, multiple, type 2 |
| RS1590555709 | Health Risk | Conflicting classifications of pathogenicity | Exostoses, multiple, type 2 |
| RS200613371 | Health Risk | Conflicting classifications of pathogenicity | Exostoses, multiple, type 2 |
| RS200631641 | Health Risk | Conflicting classifications of pathogenicity | Exostoses, multiple, type 2 |
| RS202153611 | Health Risk | Conflicting classifications of pathogenicity | Exostoses, multiple, type 2 |
| RS202208526 | Health Risk | Conflicting classifications of pathogenicity | Exostoses, multiple, type 2 |
| RS369029338 | Health Risk | Conflicting classifications of pathogenicity | Exostoses, multiple, type 2 |
| RS372237191 | Health Risk | Conflicting classifications of pathogenicity | Exostoses, multiple, type 2 |
| RS373582542 | Health Risk | Conflicting classifications of pathogenicity | Exostoses, multiple, type 2 |
| RS527624522 | Health Risk | Conflicting classifications of pathogenicity | Exostoses, multiple, type 2 |
| RS534539796 | Health Risk | Conflicting classifications of pathogenicity | Exostoses, multiple, type 2 |
| RS540229057 | Health Risk | Conflicting classifications of pathogenicity | Exostoses, multiple, type 2 |
| RS745738318 | Health Risk | Conflicting classifications of pathogenicity | Exostoses, multiple, type 2 |
| RS753223281 | Health Risk | Conflicting classifications of pathogenicity | Exostoses, multiple, type 2 |
| RS753542290 | Health Risk | Conflicting classifications of pathogenicity | Exostoses, multiple, type 2 |
| RS755625888 | Health Risk | Conflicting classifications of pathogenicity | Exostoses, multiple, type 2 |
| RS761364688 | Health Risk | Conflicting classifications of pathogenicity | Exostoses, multiple, type 2 |
| RS766384158 | Health Risk | Conflicting classifications of pathogenicity | Exostoses, multiple, type 2 |
| RS768788739 | Health Risk | Conflicting classifications of pathogenicity | Exostoses, multiple, type 2 |
| RS769478020 | Health Risk | Conflicting classifications of pathogenicity | Exostoses, multiple, type 2 |
| RS771232346 | Health Risk | Conflicting classifications of pathogenicity | Exostoses, multiple, type 2 |
| RS771803942 | Health Risk | Conflicting classifications of pathogenicity | Exostoses, multiple, type 2 |
| RS772530256 | Health Risk | Conflicting classifications of pathogenicity | Exostoses, multiple, type 2 |
| RS772690312 | Health Risk | Conflicting classifications of pathogenicity | Exostoses, multiple, type 2 |
| RS772821141 | Health Risk | Conflicting classifications of pathogenicity | Exostoses, multiple, type 2 |
| RS775542605 | Health Risk | Conflicting classifications of pathogenicity | Exostoses, multiple, type 2 |
| RS778720458 | Health Risk | Conflicting classifications of pathogenicity | Ovarian cancer, Inborn genetic diseases, Exostoses |
| RS781058452 | Health Risk | Conflicting classifications of pathogenicity | Exostoses, multiple, type 2 |
| RS945058783 | Health Risk | Conflicting classifications of pathogenicity | Exostoses, multiple, type 2 |
| RS117329700 | Health Risk | Likely pathogenic | Exostoses, multiple, type 2 |
| RS1194348744 | Health Risk | Likely pathogenic | Exostoses, multiple, type 2 |