EXT2 - exostosin glycosyltransferase 2 Gene

Also Known as SOTV; SSMS

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2132

About EXT2

Cytogenetic location: 11p11.2 Genomic coordinates (GRCh38): 11:44,095,678-44,251,962 (from NCBI)

This gene has 23 transcripts (splice variants), 209 orthologues, 4 paralogues and is associated with 81 phenotypes. Ubiquitous expression in placenta (RPKM 29.3), endometrium (RPKM 20.5) and 25 other tissues.

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 isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]

EXT2 Products (5)

mRNA	Protein	Name
NM_000401.3	NP_000392.3	exostosin-2 isoform 1
NM_001178083.3	NP_001171554.1	exostosin-2 isoform 3
NM_001389628.1	NP_001376557.1	exostosin-2 isoform 2
NM_001389630.1	NP_001376559.1	exostosin-2 isoform 2
NM_207122.2	NP_997005.1	exostosin-2 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
contributes to N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity	IDA IDA: Inferred from direct assay	36593275	GOA
contributes to acetylglucosaminyltransferase activity	IDA IDA: Inferred from direct assay	12907669	GOA
enables glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity	IDA IDA: Inferred from direct assay	36593275	GOA
enables glucuronosyltransferase activity	IDA IDA: Inferred from direct assay	12907669	GOA
enables glycosyltransferase activity	IDA IDA: Inferred from direct assay	12907669	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	18337501	GOA
enables protein heterodimerization activity	IPI IPI: Inferred from physical interaction	12907669	GOA
NOT enables protein homodimerization activity	IDA IDA: Inferred from direct assay	12907669	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in glycosaminoglycan biosynthetic process	IDA IDA: Inferred from direct assay	12907669	GOA
involved in heparan sulfate proteoglycan biosynthetic process	IMP IMP: Inferred from mutant phenotype	17761672	GOA
involved in heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	IDA IDA: Inferred from direct assay	36593275	GOA
involved in heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	IMP IMP: Inferred from mutant phenotype	17761672	GOA
involved in ossification	IMP IMP: Inferred from mutant phenotype	9326317	GOA
involved in polysaccharide biosynthetic process	IDA IDA: Inferred from direct assay	12907669	GOA

Cellular Component GO Annotation	Evidence	References	Source
is active in Golgi apparatus	IDA IDA: Inferred from direct assay	10679296	GOA
part of UDP-N-acetylglucosamine transferase complex	IDA IDA: Inferred from direct assay	12907669	GOA
part of catalytic complex	IDA IDA: Inferred from direct assay	10679296	GOA
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	10679296	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

EXT2 Protein Structure

Exostosin

Glyco_transf_64

0
200
400
600
718 a.a.

Protein Preferred Names	Protein Names
exostosin-2	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase

EXT2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	EXT2	Q93063	EXT1	Homo sapiens	Q16394	Anti Tag CoIP	33961781

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Seizures-Scoliosis-Macrocephaly Syndrome SSMS Seizures, Scoliosis, And Macrocephaly Syndrome Ssm Syndrome
Exostoses, Multiple, Type Ii	Exostoses, Multiple, Type 2 EXT2 Hereditary Multiple Exostoses 2
Exostoses, Multiple, Type I	Exostoses, Multiple, Type 1 EXT1 Multiple Cartilaginous Exostoses Diaphyseal Aclasis Multiple Osteochondromas Osteochondromatosis Hereditary Multiple Exostoses Bessel-Hagen Disease Exostoses, Multiple Ext Hereditary Multiple Osteochondromas Hmo Hereditary Multiple Exostosis Multiple Exostoses Hereditary Multiple Exostoses 1 Osteochondromas, Multiple Enchondromatosis Glucuronyltransferase/N-Acetylglucosaminyltransferase Deficiency Ext1/Ext2-Cdg Multiple Congenital Exostoses
Inherited Cancer-Predisposing Syndrome	Hereditary Cancer-Predisposing Syndrome
Bap1 Tumor Predisposition Syndrome	Bap1-Related Tumor Predisposition Syndrome Common Syndrome Bap1 Cancer Syndrome Bap1-Tpds Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, And Other Internal Neoplasms Tumor Predisposition Syndrome Tumor Susceptibility Linked To Germline Bap1 Mutations Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, Other Internal Neoplasms Tumor Predisposition
Exostosis	Osteophyte Exostoses Orbital Exostosis Exostosis Of Orbit Bone Spur Bony Outgrowth Swimmer'S Exostosis Osteophytes External Exotoses Cartilaginous Exostosis
Hereditary Multiple Exostoses	Multiple Congenital Exostosis Hereditary Multiple Exostoses 1 Hereditary Multiple Exostoses 2 Hereditary Multiple Exostoses 3 Multiple Exostosis Syndromes Multiple Ostechondromas Osteochondromatosis Syndrome Exostoses Multiple Hereditary Exostoses, Multiple Hereditary
Potocki-Shaffer Syndrome	Proximal 11p Deletion Syndrome Chromosome 11p11.2 Deletion Syndrome Pss 11p11.2 Deletion P11pds Defect11 Syndrome Deletion Of Chromosome 11p11.2 POSHS
Chondrosarcoma	Cartilaginous Cancer Chondrosarcoma Of Bone Primary Chondrosarcoma Of The Bone CHDSA
Bone Disease	Bone Diseases Skeletal Disease Skeletal Disorder Disorder Of Skeletal System
Osteochondroma	Cartilaginous Exostosis
Hereditary Multiple Osteochondromas	Hereditary Multiple Exostoses Diaphyseal Aclasis Multiple Cartilaginous Exostoses Multiple Hereditary Exostoses Bessel-Hagen Disease Exostoses, Multiple Hereditary Familial Exostoses Multiple Congenital Exostosis Multiple Osteochondromas Multiple Osteochondromatosis Osteochondromatosis
Hepatoblastoma
Metachondromatosis	METCDS MC
Ankylosing Spondylitis 3
Enchondromatosis, Multiple, Ollier Type	Ollier Disease Enchondromatosis Dyschondroplasia Osteochondromatosis Multiple Cartilaginous Enchondroses Multiple Enchondromatosis Enchondromatosis With Haemangiomata Enchondromatosis, Multiple Kast'S Syndrome Ollier'S Syndrome Enchondromatosis Multiple ENCHOM Maffucci Disease Olliers Disease Hereditary Multiple Exostoses Chondromatosis
Juxtacortical Chondrosarcoma
Dysostosis	Dysostoses
Juxtacortical Chondroma	Periosteal Chondroma
Multiple Enchondromatosis, Maffucci Type	Maffucci Syndrome Chondrodysplasia With Hemangioma Chondroplasia Angiomatosis Enchondromatosis With Hemangiomata Hemangiomatosis Chondrodystrophica Kast Syndrome Multiple Angiomas And Endochondromas Dyschondrodysplasia With Hemangiomas Enchondromatosis Type Ii Enchondromatosis With Multiple Cavernous Hemangiomas Dyschondroplasia And Cavernous Hemangioma Hemangiomata With Dyschondroplasia
Parietal Foramina	Enlarged Parietal Foramina Hereditary Cranium Bifidum Symmetric Parietal Foramina Catlin Marks Foramina Parietalia Permagna Caitlin Marks Cranium Bifidum Cranium Bifidum Occultum Fenestrae Parietals Symmetricae Fpp Giant Parietal Foramina Pfm Fenestrae Parietales Symmetricae Foramina, Parietal
Periosteal Osteogenic Sarcoma	Periosteal Osteosarcoma Parosteal Osteosarcoma
Breast Pericanalicular Fibroadenoma	Pericanalicular Fibroadenoma Pericanalicular Fibroadenoma Of Breast
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3	CMTX3 Charcot-Marie-Tooth Disease X-Linked Recessive 3 Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 3 Cmt3x X-Linked Charcot-Marie-Tooth Disease Type 3 Charcot-Marie-Tooth Neuropathy X-Linked Recessive 3 Charcot-Marie-Tooth Disease, X-Linked Type 3, Recessive
Trichorhinophalangeal Syndrome, Type Ii	Langer-Giedion Syndrome Lgs Trichorhinophalangeal Syndrome Type Ii Trichorhinophalangeal Syndrome Type 2 TRPS2 Monosomy 8q24.1 Chromosome 8q24.1 Deletion Syndrome Deletion 8q24.1 Giedion-Langer Syndrome Trichorhinophalangeal Dysplasia Type Ii Langer Giedion Syndrome Trps 2 Tricho-Rhino-Phalangeal Syndrome Type Ii Trichorhinophalangeal Syndrome With Exostosis Trps Ii Tricho-Rhino-Phalangeal Syndrome 2 8q24.1 Microdeletion Syndrome 8q24.1 Deletion Syndrome
Periosteal Chondrosarcoma	Juxtacortical Chondrosarcoma
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2	CMTX2 Charcot-Marie-Tooth Disease X-Linked Recessive 2 X-Linked Charcot-Marie-Tooth Disease Type 2 Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 2 Charcot-Marie-Tooth Neuropathy X-Linked Recessive 2 Charcot-Marie-Tooth Disease, X-Linked Type 2, Recessive
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Spondyloepiphyseal Dysplasia Chst3-Related Skeletal Dysplasia Humerospinal Dysostosis Spondyloepiphyseal Dysplasia, Omani Type Chondrodysplasia With Multiple Dislocations SEDCJD Hsd Cdmd Humero-Spinal Dysostosis Kozlowski Celermajer Tink Syndrome Chondrodysplasia With Congenital Joint Dislocations, Chst3 Type Larsen Syndrome, Recessive Type Humero-Spinal Dysostosis With Congenital Heart Disease Omani Type Sed Chst3 Deficiency Chst3-Related Dysplasia Recessive Larsen Syndrome Autosomal Recessive Larsen Syndrome Sed With Luxations, Chst3 Type Sed, Omani Type Sdcd, Chst3 Type Spondyloepiphyseal Dysplasia With Congenital Joint Dyslocations, Chst3 Type Sed Omani Type Spondyloepiphyseal Dysplasia Omani Type Larsen Syndrome, Autosomal Recessive Mucopolysaccharidosis Iv Spondyloepiphyseal Dysplasia, Congenita
Chondroma	Central Chondroma Enchondroma
Scoliosis
Craniosynostosis	Premature Closure Of Cranial Sutures Craniostenosis Craniosynostosis Syndrome Cso Craniosynostoses Congenital Ossification Of Cranial Sutures Congenital Ossification Of Sutures Of Skull Craniostosis Imperfect Fusion Of Skull Congenital Imperfect Closure Skull Imperfect Closure Skull Premature Closure Cranium Sutures Deficiency Of Craniofacial Axis
Clear Cell Chondrosarcoma	Chondrosarcoma, Clear Cell
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Coloboma Of Optic Nerve	Morning Glory Disc Anomaly Coloboma Of Optic Disc Morning Glory Syndrome Ectasic Coloboma Coloboma Of Optic Papilla Congenital Coloboma Of The Optic Nerve Optic Nerve Coloboma Optic Nerve Head Pits, Bilateral Congenital Volubilis Syndrome COLON Coloboma Of Optic Disc, Unspecified Eye Congenital Coloboma Of Optic Disc Optic Disk Coloboma
Bone Sarcoma
Larsen Syndrome	LRS Larsen Syndrome, Dominant Type Dominant Larsen Syndrome Autosomal Dominant Larsen Syndrome Larsens Syndrome
Optic Nerve Hypoplasia, Bilateral	Optic Nerve Hypoplasia Bilateral Optic Nerve Hypoplasia Optic Nerve Hypoplasia, Familial Bilateral Familial Bilateral Optic Nerve Hypoplasia Isolated Optic Nerve Hypoplasia/Aplasia Optic Nerve Aplasia, Bilateral Onh BONH Bilateral Optic Nerve Aplasia Hypoplasia, Optic Nerve, Bilateral
Type 2 Diabetes Mellitus	Insulin Resistance NIDDM Type 2 Diabetes Diabetes Mellitus, Non-Insulin-Dependent T2D Noninsulin-Dependent Diabetes Mellitus Diabetes Mellitus, Type Ii Maturity-Onset Diabetes Insulin Resistance, Severe, Digenic Diabetes Mellitus, Type 2 Diabetes Mellitus, Noninsulin-Dependent Diabetes Mellitus, Noninsulin-Dependent, Association With Diabetes Mellitus, Noninsulin-Dependent, Late Onset Hypertension, Insulin Resistance-Related, Susceptibility To Insulin Resistance, Susceptibility To Non-Insulin-Dependent Diabetes Mellitus Type Ii Diabetes Mellitus Adult-Onset Diabetes Mellitus Maturity-Onset Diabetes Mellitus Diabetes Mellitus Type 2 Type Ii Diabetes Type 2 Diabetes Mellitus, Susceptibility To Diabetes, Type 2 Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To Diabetes Mellitus, Type 2, Susceptibility To Diabetes Mellitus, Noninsulin-Dependent, 2 Diabetes Mellitus, Type Ii, Susceptibility To Hypertension, Insulin Resistance-Related Adult-Onset Diabetes Aodm Diabetes Mellitus, Adult-Onset Diabetes Mellitus Type Ii Diabetes Mellitus Type 2, Susceptibility To Diabetes, Type Ii, Susceptibility To Diabetes Type 2 Diabetes Mellitus Adult Onset Diabetes Maturity Onset Diabetes Nonketotic Diabetes Non-Insulin Dependent Diabetes Mellitus T2dm - [Type 2 Diabetes Mellitus] Niddm - [Non Insulin Dependent Diabetes Mellitus] Dm2 Dm Type Ii Diabetic Type 2 Insulin Requiring Type 2 Diabetes Noninsulin Dependent Diabetes Non-Insulin-Dependent Diabetes Mellitus Without Complications Diabetes Due To Insulin Secretory Defect Diabetes Mellitus Due To Insulin Secretory Defect Non-Insulin-Dependent Diabetes Of The Young Senile Diabetes Nonketotic Hyperglycaemia Stable Diabetes
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04608	EXT2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	EXT2	VGNC	VGNC:62010
Bos taurus	EXT2	VGNC	VGNC:28666
Mus musculus	EXT2	MGD	MGI:108050
Rattus norvegicus	EXT2	RGD	RGD:1307707
Macaca mulatta	EXT2	VGNC	VGNC:72449
Canis familiaris	EXT2	VGNC	VGNC:40532