EXT2 - exostosin glycosyltransferase 2 Gene

Homo sapiens

Also known as SOTV; SSMS

Gene ID: 2132 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

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

Bioactive Molecules (1)

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