EXTL2 - exostosin like glycosyltransferase 2 Gene

Also Known as EXTR2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2135

About EXTL2

Cytogenetic location: 1p21.2 Genomic coordinates (GRCh38): 1:100,872,372-100,895,179 (from NCBI)

This gene has 7 transcripts (splice variants), 190 orthologues and 4 paralogues. Ubiquitous expression in adrenal (RPKM 10.0), placenta (RPKM 9.1) and 25 other tissues.

Summary

Enables alpha-1,4-N-acetylgalactosaminyltransferase activity and glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity. Involved in N-acetylglucosamine metabolic process and UDP-N-acetylgalactosamine metabolic process. Located in cytosol; endoplasmic reticulum; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]

EXTL2 Products (5)

mRNA	Protein	Name
NM_001033025.3	NP_001028197.1	exostosin-like 2 isoform 1
NM_001261440.2	NP_001248369.1	exostosin-like 2 isoform 2
NM_001261441.2	NP_001248370.1	exostosin-like 2 isoform 3
NM_001261442.2	NP_001248371.1	exostosin-like 2 isoform 4
NM_001439.4	NP_001430.1	exostosin-like 2 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables alpha-1,4-N-acetylgalactosaminyltransferase activity	IDA IDA: Inferred from direct assay	10318803	GOA
enables glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity	IDA IDA: Inferred from direct assay	10318803	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32814053	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in N-acetylglucosamine metabolic process	IDA IDA: Inferred from direct assay	10318803	GOA
involved in UDP-N-acetylgalactosamine metabolic process	IDA IDA: Inferred from direct assay	10318803	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	10639137	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

EXTL2 Protein Structure

Glyco_transf_64

0
100
200
300
330 a.a.

Protein Preferred Names	Protein Names
exostosin-like 2	EXT-related protein 2

EXTL2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	EXTL2	Q9UBQ6	JPH3	Homo sapiens	Q8WXH2	Y2H Pooling	32814053
Intra	EXTL2	Q9UBQ6	JPH3	Homo sapiens	Q8WXH2	Validated Y2H	32814053
Intra	EXTL2	Q9UBQ6	JPH3	Homo sapiens	Q8WXH2	Y2H Array	32814053
Intra	EXTL2	Q9UBQ6	SPRED1	Homo sapiens	Q7Z699	Y2H Array	32814053
Intra	EXTL2	Q9UBQ6	SPRED1	Homo sapiens	Q7Z699	Validated Y2H	32814053
Intra	EXTL2	Q9UBQ6	SPRED1	Homo sapiens	Q7Z699	Y2H Pooling	32814053
Intra	EXTL2	Q9UBQ6	GFAP	Homo sapiens	P14136	Validated Y2H	32814053
Intra	EXTL2	Q9UBQ6	GFAP	Homo sapiens	P14136	Y2H Array	32814053
Intra	EXTL2	Q9UBQ6	GFAP	Homo sapiens	P14136	Y2H Pooling	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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
Breast Pericanalicular Fibroadenoma	Pericanalicular Fibroadenoma Pericanalicular Fibroadenoma Of Breast
Exostosis	Osteophyte Exostoses Orbital Exostosis Exostosis Of Orbit Bone Spur Bony Outgrowth Swimmer'S Exostosis Osteophytes External Exotoses Cartilaginous Exostosis
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Ehlers-Danlos Syndrome Progeroid Type Ehlers-Danlos Syndrome, Progeroid Type, 2 EDSSPD2 Ehlers-Danlos Syndrome Spondylodysplastic Type 2 Ehlers-Danlos Syndrome, Progeroid Type, 2, Formerly Edsp2, Formerly Defective Biosynthesis Of Proteodermatan Sulfate Xgpt Deficiency Xylosylprotein 4-Beta-Galactosyltransferase Deficiency B3galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome B3galt6-Related Speds B3galt6-Related Spondylodysplastic Eds Beta3galt6-Deficient Eds Ehlers-Danlos Syndrome Progeroid Type 2 Speds-B3galt6 Edsp2 Ehlers-Danlos, Spondylodysplastic Syndrome, Type 2 Ehlers-Danlos Syndrome, Progeroid Form
Mucopolysaccharidosis, Type Iiic	Mucopolysaccharidosis Type Iiic MPS3C Mps Iiic Sanfilippo Syndrome C Heparan-Alpha-Glucosaminide N-Acetyltransferase Deficiency Hgsnat Deficiency Mpsiiic Mucopolysaccharidosis Type 3c Sanfilippo Syndrome Type C Acetyl-Coa:Alpha-Glucosaminide N-Acetyltransferase Deficiency Mucopoly-Saccharidosis Type 3c Acetyl-Coa Alpha-Glucosaminide Acetyltransferase Deficiency Acetyl-Coa Alpha-Glucosaminide N-Acetyltransferase Deficiency Mps 3c Mps Iii-C Mucopolysaccharidosis 3c Mucopolysaccharidosis Iii Mps Iii C
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
Omodysplasia	Omodysplasia Type 1 Omodysplasia 2
Mucopolysaccharidosis, Type Iiia	Mucopolysaccharidosis Type Iiia MPS3A Mps Iiia Sanfilippo Syndrome A Heparan Sulfate Sulfatase Deficiency Sulfamidase Deficiency Heparan Sulfamidase Deficiency Mpsiiia Mucopolysaccharidosis Type 3a Sanfilippo Syndrome Type A Mucopolysaccharidosis Iii-A Heparane Sulfamidase Deficiency Mps 3a Mucopoly-Saccharidosis Type 3a Mps Iii-A Mucopolysaccharidosis 3a Mucopolysaccharidosis Iii
Mucopolysaccharidosis Iii	Sanfilippo Syndrome Mucopolysaccharidosis Type Iii Mucopolysaccharidosis Type 3 Mps Iii Mpsiii Sanfilippo Disease Heparan Sulfate Sulfatase Deficiency Mucopolysaccharidosis, Mps-Iii N-Sulphoglucosamine Sulphohydrolase Deficiency Naglu Deficiency Sanfilippo'S Syndrome Mucopoly-Saccharidosis Type 3 Mps3 Sanfilippos Syndrome Mucopolysaccharidosis Type Iiia Mps Iii B

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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04609	EXTL2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19000	Extl2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25489	Extl2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	EXTL2	MGD	MGI:1889574
Macaca mulatta	EXTL2	VGNC	VGNC:72451
Felis catus	EXTL2	VGNC	VGNC:107533
Rattus norvegicus	EXTL2	RGD	RGD:1307684
Bos taurus	EXTL2	VGNC	VGNC:28668
Canis familiaris	EXTL2	VGNC	VGNC:40534
Others	EXTL2	NCBI