Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2132
Gene name Gene Name - the full gene name approved by the HGNC.
Exostosin glycosyltransferase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
EXT2
Synonyms (NCBI Gene) Gene synonyms aliases
SOTV, SSMS
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11p11.2
Summary Summary of gene provided in NCBI Entrez Gene.
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 isof
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs121918279 C>G,T Pathogenic Coding sequence variant, stop gained, missense variant
rs121918280 G>A Pathogenic Coding sequence variant, missense variant
rs121918281 C>G Pathogenic Coding sequence variant, stop gained
rs138187791 G>A Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, not-provided Coding sequence variant, intron variant, missense variant
rs138495222 C>T Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, not-provided Coding sequence variant, genic downstream transcript variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT029899 hsa-miR-26b-5p Microarray 19088304
MIRT047352 hsa-miR-34a-5p CLASH 23622248
MIRT483072 hsa-miR-6753-5p PAR-CLIP 20371350
MIRT483070 hsa-miR-4436b-3p PAR-CLIP 20371350
MIRT483068 hsa-miR-4632-5p PAR-CLIP 20371350
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0000139 Component Golgi membrane TAS
GO:0000271 Process Polysaccharide biosynthetic process IDA 12907669
GO:0001503 Process Ossification IMP 9326317
GO:0001707 Process Mesoderm formation IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608210 3513 ENSG00000151348
Protein
UniProt ID Q93063
Protein name Exostosin-2 (EC 2.4.1.224) (Exostosin glycosyltransferase 2) (Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase) (Heparan sulfate co-polymerase subunit EXT1) (Multiple exostoses protein 2)
Protein function Glycosyltransferase forming with EXT1 the heterodimeric heparan sulfate polymerase which catalyzes the elongation of the heparan sulfate glycan backbone (PubMed:22660413, PubMed:36402845, PubMed:36593275). Glycan backbone extension consists in t
PDB 7SCH , 7SCJ , 7SCK , 7UQX , 7UQY , 7ZAY
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03016 Exostosin 100 380 Exostosin family Family
PF09258 Glyco_transf_64 456 701 Glycosyl transferase family 64 domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:8782816}.
Sequence
Sequence length 718
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Glycosaminoglycan biosynthesis - heparan sulfate / heparin
Metabolic pathways
  HS-GAG biosynthesis
Defective EXT2 causes exostoses 2
Defective EXT1 causes exostoses 1, TRPS2 and CHDS
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Multiple exostoses Exostoses, multiple, type 2 rs1954107890, rs1064793854, rs1565205890, rs750542485, rs267606786, rs1319747883, rs1555002460, rs1565199251, rs1590618771, rs864309638, rs1954373394, rs1555002457, rs1369420640, rs1590647371, rs886039744
View all (35 more)
N/A
Seizures, Scoliosis, And Macrocephaly Syndrome seizures-scoliosis-macrocephaly syndrome rs1457613214, rs1590667793, rs121918280 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
multiple congenital exostosis Multiple congenital exostosis N/A N/A ClinVar
Multiple Osteochondromas hereditary multiple osteochondromas N/A N/A GenCC
ovarian cancer Ovarian cancer N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Atrophy Stimulate 33478971
Breast Diseases Associate 34261476
Breast Neoplasms Associate 30054430, 34261476
Carcinoma Squamous Cell Associate 33314711
Chondrosarcoma Associate 19336518, 22116208
Diabetes Gestational Associate 34928995
Diabetes Mellitus Associate 19008344
Diabetes Mellitus Type 2 Associate 17786204, 18633108, 19008344, 22113416, 25498973, 25541963
Dwarfism Pituitary Associate 36714562
Enchondromatosis Associate 36676722