EXTL2 (exostosin like glycosyltransferase 2)

2003-02-01  

Identity

HGNC
LOCATION
1p21.2
LOCUSID
ALIAS
EXTR2
FUSION GENES

Other Information

Locus ID:

NCBI: 2135
MIM: 602411
HGNC: 3516
Ensembl: ENSG00000162694

Variants:

dbSNP: 2135
ClinVar: 2135
TCGA: ENSG00000162694
COSMIC: EXTL2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000162694ENST00000370113Q9UBQ6
ENSG00000162694ENST00000370114Q9UBQ6
ENSG00000162694ENST00000416479C9IYF5
ENSG00000162694ENST00000450240C9JEG3
ENSG00000162694ENST00000535414F5GZK1

Expression (GTEx)

0
5
10
15
20
25
30

Pathways

PathwaySourceExternal ID
Glycosaminoglycan biosynthesis - heparan sulfate / heparinKEGGko00534
Glycosaminoglycan biosynthesis - heparan sulfate / heparinKEGGhsa00534
Metabolic pathwaysKEGGhsa01100
Glycosaminoglycan biosynthesis, heparan sulfate backboneKEGGhsa_M00059
Glycosaminoglycan biosynthesis, heparan sulfate backboneKEGGM00059

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
361817932022Glycosyltransferases EXTL2 and EXTL3 cellular balance dictates heparan sulfate biosynthesis and shapes gastric cancer cell motility and invasion.3
361817932022Glycosyltransferases EXTL2 and EXTL3 cellular balance dictates heparan sulfate biosynthesis and shapes gastric cancer cell motility and invasion.3
325175482021Altered Expression of Aggrecan, FAM20B, B3GALT6, and EXTL2 in Patients with Osteoarthritis and Kashin-Beck Disease.4
325175482021Altered Expression of Aggrecan, FAM20B, B3GALT6, and EXTL2 in Patients with Osteoarthritis and Kashin-Beck Disease.4
327032342020The glycosyltransferase EXTL2 promotes proteoglycan deposition and injurious neuroinflammation following demyelination.12
327032342020The glycosyltransferase EXTL2 promotes proteoglycan deposition and injurious neuroinflammation following demyelination.12
233958202013EXTL2, a member of the EXT family of tumor suppressors, controls glycosaminoglycan biosynthesis in a xylose kinase-dependent manner.48
233958202013EXTL2, a member of the EXT family of tumor suppressors, controls glycosaminoglycan biosynthesis in a xylose kinase-dependent manner.48
196905832010Gene silencing of EXTL2 and EXTL3 as a substrate deprivation therapy for heparan sulphate storing mucopolysaccharidoses.21
196905832010Gene silencing of EXTL2 and EXTL3 as a substrate deprivation therapy for heparan sulphate storing mucopolysaccharidoses.21
158314902005Two-step mechanism that determines the donor binding specificity of human UDP-N-acetylhexosaminyltransferase.4
158314902005Two-step mechanism that determines the donor binding specificity of human UDP-N-acetylhexosaminyltransferase.4

Citation

Dessen P

EXTL2 (exostosin like glycosyltransferase 2)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/40515/extl2