Gene Gene information from NCBI Gene database.
Entrez ID 2132
Gene name Exostosin glycosyltransferase 2
Gene symbol EXT2
Synonyms (NCBI Gene)
SOTVSSMS
Chromosome 11
Chromosome location 11p11.2
Summary 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.
55
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.
586
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
57
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608210 3513 ENSG00000151348
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
904
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Exostoses, multiple, type 2 Pathogenic; Likely pathogenic rs2134965356, rs2134967046, rs2135014852, rs1448103584, rs1403873034, rs2135204843, rs1954091762, rs2134971524, rs2134985434, rs753973135, rs781083252, rs2134967717, rs2134965481, rs2135020654, rs2134968744
View all (128 more)
RCV001387737
RCV001381924
RCV001390840
RCV001386700
RCV001386701
RCV001390832
RCV002569114
RCV003497927
RCV001644551
RCV002503271
RCV001928486
RCV001881370
RCV001939416
RCV001940302
RCV002044641
RCV001993224
RCV001897508
RCV001933695
RCV001951189
RCV001953435
RCV001962993
RCV001972715
RCV001956059
RCV001889760
RCV001941265
RCV001881259
RCV001935269
RCV001965899
RCV001930304
RCV001882240
RCV001973589
RCV002039877
RCV001909292
RCV002274278
RCV002289289
RCV003774983
RCV000002575
RCV000002576
RCV000002577
RCV000002578
RCV000002579
RCV000002580
RCV000002581
RCV002466890
RCV003056730
RCV003058304
RCV003062361
RCV003058305
RCV003069165
RCV003095706
RCV003112214
RCV002604967
RCV002811636
RCV002889594
RCV002863846
RCV002898796
RCV003225826
RCV004813223
RCV003603046
RCV001859484
RCV000707279
RCV001211363
RCV000552959
RCV000527949
RCV000542457
RCV003325290
RCV003336693
RCV003467980
RCV003460053
RCV003468004
RCV003468005
RCV003468006
RCV003499966
RCV003499967
RCV003499968
RCV003499969
RCV003498328
RCV003498347
RCV003604160
RCV003604701
RCV003604762
RCV003604929
RCV003602625
RCV003602576
RCV003603833
RCV003851591
RCV004576458
RCV004586458
RCV003497846
RCV001204484
RCV000793276
RCV000535208
RCV000553165
RCV003497859
RCV001062683
RCV000641565
RCV000641564
RCV000641566
RCV000641563
RCV000705945
RCV000702149
RCV000689474
RCV000689685
RCV000693656
RCV000761234
RCV002535841
RCV000814574
RCV000804879
RCV000793215
RCV000824415
RCV000812182
RCV000819350
RCV000818168
RCV005093049
RCV001215652
RCV001034616
RCV001058089
RCV001039923
RCV001059704
RCV001057844
RCV001051787
RCV001041516
RCV001036031
RCV001069093
RCV001039837
RCV001059095
RCV001175160
RCV001215063
RCV001220127
RCV001219401
RCV001223589
RCV001221863
RCV001216582
RCV001221368
RCV001222254
RCV001209788
RCV001210746
RCV001204065
RCV001204896
RCV001209040
RCV001202921
RCV001208455
RCV001207550
RCV001218603
RCV001237549
RCV001234386
RCV001237110
RCV001232930
RCV001247830
RCV001250997
RCV001262418
RCV001263555
RCV002541631
RCV001281102
EXT2-related disorder Pathogenic; Likely pathogenic rs864309636, rs121918281, rs864309638, rs763718818, rs2539562654, rs1488367942, rs754533434 RCV003415629
RCV003894785
RCV003398422
RCV003930032
RCV003412477
RCV003391481
RCV004745524
Hepatoblastoma Likely pathogenic rs2135127852 RCV001843912
Hereditary cancer-predisposing syndrome Pathogenic rs121918279 RCV000850054
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Likely benign rs112082531, rs369501833 RCV005914714
RCV005933274
Cervical cancer Likely benign; Benign; Conflicting classifications of pathogenicity rs112082531, rs12362775, rs138187791 RCV005914716
RCV005919462
RCV005889479
Cholangiocarcinoma Benign rs12362775 RCV005919466
Clear cell carcinoma of kidney Conflicting classifications of pathogenicity rs138187791 RCV005889480
Associations from Text MiningDisease 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