Summary ?
GeneID2132
SymbolEXT2
SynonymsSOTV|SSMS
Descriptionexostosin glycosyltransferase 2
ReferenceMIM:608210|HGNC:HGNC:3513|Ensembl:ENSG00000151348|HPRD:00599|Vega:OTTHUMG00000166498
Gene typeprotein-coding
Map location11p12-p11
Pascal p-value0.028
eGeneMyers' cis & trans
Meta
SupportG2Cdb.humanPSD
G2Cdb.humanPSP
Ascano FMRP targets

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS

Section I. Genetics and epigenetics annotation

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs4741017chr910204525EXT221320.02trans
rs4570782chr1595576903EXT221320.17trans

Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

Top co-expressed genes in brain regions

Top 10 positively co-expressed genes
GenePearson's Correlation Spearman's Correlation
CILP0.550.40
FGFR40.530.39
MYO190.520.44
PXDN0.510.36
CEACAM190.490.40
HPX0.490.33
CCNL20.490.40
RAD520.480.40
ZNF6920.480.45
FSCN30.480.36
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
AF347015.31-0.28-0.34
S100A16-0.28-0.32
APOE-0.28-0.34
HSD17B6-0.27-0.31
AIFM3-0.27-0.28
AC011427.1-0.26-0.30
AF347015.33-0.26-0.31
AF347015.27-0.26-0.33
MT-CYB-0.26-0.32
COX4I2-0.26-0.31

Section IV. Protein-protein interaction annotation

InteractorsAliases BOfficial full name BExperimentalSourcePubMed ID
CLEC2LFLJ32986C-type lectin domain family 2, member LAffinity Capture-MSBioGRID17353931 
CNTFHCNTFciliary neurotrophic factorAffinity Capture-MSBioGRID17353931 
CRB1LCA8 | RP12crumbs homolog 1 (Drosophila)Affinity Capture-MSBioGRID17353931 
EXT1EXT | LGCR | LGS | TRPS2 | ttvexostoses (multiple) 1-HPRD,BioGRID10639137 |10679296 
EXT2SOTVexostoses (multiple) 2-HPRD,BioGRID10639137 |10679296 
FABP4A-FABP | aP2fatty acid binding protein 4, adipocyteAffinity Capture-MSBioGRID17353931 
GALNT5GALNAC-T5 | MGC165041UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)-HPRD,BioGRID10545594 
HNF4AFLJ39654 | HNF4 | HNF4a7 | HNF4a8 | HNF4a9 | MODY | MODY1 | NR2A1 | NR2A21 | TCF | TCF14hepatocyte nuclear factor 4, alphaAffinity Capture-MSBioGRID17353931 
HYOU1DKFZp686N08236 | FLJ94899 | FLJ97572 | Grp170 | HSP12A | ORP150hypoxia up-regulated 1Affinity Capture-MSBioGRID17353931 
RPS29-ribosomal protein S29Affinity Capture-MSBioGRID17353931 
SNCGBCSG1 | SRsynuclein, gamma (breast cancer-specific protein 1)Affinity Capture-MSBioGRID17353931 
STK16FLJ39635 | KRCT | MPSK | PKL12 | TSF1serine/threonine kinase 16Affinity Capture-MSBioGRID17353931 
TCEB1SIIItranscription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C)Affinity Capture-MSBioGRID17353931 
TRAP1HSP75 | HSP90LTNF receptor-associated protein 1-HPRD,BioGRID10545594 


Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG GLYCOSAMINOGLYCAN BIOSYNTHESIS HEPARAN SULFATE 2616All SZGR 2.0 genes in this pathway
REACTOME HS GAG BIOSYNTHESIS 3117All SZGR 2.0 genes in this pathway
REACTOME HEPARAN SULFATE HEPARIN HS GAG METABOLISM 5233All SZGR 2.0 genes in this pathway
REACTOME GLYCOSAMINOGLYCAN METABOLISM 11169All SZGR 2.0 genes in this pathway
REACTOME METABOLISM OF CARBOHYDRATES 247154All SZGR 2.0 genes in this pathway
BARRIER COLON CANCER RECURRENCE UP 4228All SZGR 2.0 genes in this pathway
SENESE HDAC3 TARGETS DN 536332All SZGR 2.0 genes in this pathway
DARWICHE SKIN TUMOR PROMOTER UP 14296All SZGR 2.0 genes in this pathway
DARWICHE PAPILLOMA RISK LOW UP 162104All SZGR 2.0 genes in this pathway
DARWICHE PAPILLOMA RISK HIGH UP 147101All SZGR 2.0 genes in this pathway
DARWICHE SQUAMOUS CELL CARCINOMA UP 146104All SZGR 2.0 genes in this pathway
PEREZ TP53 TARGETS 1174695All SZGR 2.0 genes in this pathway
SCHLOSSER SERUM RESPONSE DN 712443All SZGR 2.0 genes in this pathway
KANNAN TP53 TARGETS UP 5840All SZGR 2.0 genes in this pathway
KUMAR TARGETS OF MLL AF9 FUSION 405264All SZGR 2.0 genes in this pathway
IVANOVA HEMATOPOIESIS STEM CELL LONG TERM 302191All SZGR 2.0 genes in this pathway
GRESHOCK CANCER COPY NUMBER UP 323240All SZGR 2.0 genes in this pathway
MILI PSEUDOPODIA HAPTOTAXIS DN 668419All SZGR 2.0 genes in this pathway
YAGI AML WITH T 8 21 TRANSLOCATION 368247All SZGR 2.0 genes in this pathway
LU EZH2 TARGETS DN 414237All SZGR 2.0 genes in this pathway
LINSLEY MIR16 TARGETS 206127All SZGR 2.0 genes in this pathway
KOINUMA TARGETS OF SMAD2 OR SMAD3 824528All SZGR 2.0 genes in this pathway