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
196905832010Gene silencing of EXTL2 and EXTL3 as a substrate deprivation therapy for heparan sulphate storing mucopolysaccharidoses.14
158314902005Two-step mechanism that determines the donor binding specificity of human UDP-N-acetylhexosaminyltransferase.4
233958202013EXTL2, a member of the EXT family of tumor suppressors, controls glycosaminoglycan biosynthesis in a xylose kinase-dependent manner.0

Citation

Dessen P

EXTL2 (exostosin like glycosyltransferase 2)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

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