Property Summary

NCBI Gene PubMed Count 14
PubMed Score 12.62
PubTator Score 10.26

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (3)

Disease Target Count P-value
malignant mesothelioma 3163 2.5e-07
Pick disease 1893 8.7e-05
ovarian cancer 8491 1.7e-04
osteosarcoma 7933 3.9e-04
lung cancer 4473 5.1e-04
Alzheimer's disease 644 2.6e-02
Disease Target Count Z-score Confidence
Multiple Sclerosis 498 0.0 2.0
Disease Target Count Z-score Confidence
Exostosis 15 6.075 3.0

Expression

  Differential Expression (6)

Disease log2 FC p
malignant mesothelioma -1.500 2.5e-07
osteosarcoma 1.875 3.9e-04
lung cancer 2.300 5.1e-04
Alzheimer's disease -1.100 2.6e-02
Pick disease -1.700 8.7e-05
ovarian cancer 1.700 1.7e-04

Gene RIF (3)

PMID Text
23395820 EXTL2 functions to suppress GAG biosynthesis that is enhanced by a xylose kinase and the EXTL2-dependent mechanism that regulates GAG biosynthesis might be a "quality control system" for proteoglycans
19690583 Lysosomal glycosaminoglycan levels in mucopolysaccharidosis are reduced by EXTL2 gene silencing.
15831490 donor binding appears to undergo two distinct steps, beginning with the N-acetyl group expelling water from the donor- enzyme complex into the bulk solvent followed by positioning of the donor into the binding site for interactions with the enzyme

AA Sequence

MRCCHICKLPGRVMGIRVLRLSLVVILVLLLVAGALTALLPSVKEDKMLMLRREIKSQGKSTMDSFTLIM      1 - 70
QTYNRTDLLLKLLNHYQAVPNLHKVIVVWNNIGEKAPDELWNSLGPHPIPVIFKQQTANRMRNRLQVFPE     71 - 140
LETNAVLMVDDDTLISTPDLVFAFSVWQQFPDQIVGFVPRKHVSTSSGIYSYGSFEMQAPGSGNGDQYSM    141 - 210
VLIGASFFNSKYLELFQRQPAAVHALIDDTQNCDDIAMNFIIAKHIGKTSGIFVKPVNMDNLEKETNSGY    211 - 280
SGMWHRAEHALQRSYCINKLVNIYDSMPLRYSNIMISQFGFPYANYKRKI                        281 - 330
//

Text Mined References (14)

PMID Year Title
23395820 2013 EXTL2, a member of the EXT family of tumor suppressors, controls glycosaminoglycan biosynthesis in a xylose kinase-dependent manner.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
21833088 2011 Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
19690583 2010 Gene silencing of EXTL2 and EXTL3 as a substrate deprivation therapy for heparan sulphate storing mucopolysaccharidoses.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15831490 2005 Two-step mechanism that determines the donor binding specificity of human UDP-N-acetylhexosaminyltransferase.
15342556 2004 Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10639137 2000 The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate.
10318803 1999 The tumor suppressor EXT-like gene EXTL2 encodes an alpha1, 4-N-acetylhexosaminyltransferase that transfers N-acetylgalactosamine and N-acetylglucosamine to the common glycosaminoglycan-protein linkage region. The key enzyme for the chain initiation of heparan sulfate.
9473480 1998 Structure, chromosomal location, and expression profile of EXTR1 and EXTR2, new members of the multiple exostoses gene family.
9450183 Identification and characterization of a novel member of the EXT gene family, EXTL2.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.