login
register
GSEA Home
Downloads
Molecular Signatures Database
Documentation
Contact
Team
MSigDB Home
Human Collections
About
Browse
Search
Investigate
Gene Families
Mouse Collections
About
Browse
Search
Investigate
Help
Human Gene Set: REACTOME_DEFECTIVE_EXT2_CAUSES_EXOSTOSES_2
Standard name
REACTOME_DEFECTIVE_EXT2_CAUSES_EXOSTOSES_2
Systematic name
M27263
Brief description
Defective EXT2 causes exostoses 2
Full description or abstract
Collection
C2: Curated
CP: Canonical Pathways
CP:REACTOME: Reactome Pathways
Source publication
Exact source
R-HSA-3656237
Related gene sets
External links
https://www.reactome.org/content/detail/R-HSA-3656237
Filtered by similarity
?
(
show
1 similar pathway(s) from the external resource)
External ID
External Name
R-HSA-3656253
Defective EXT1 causes exostoses 1, TRPS2 and CHDS
Source species
Homo sapiens
Contributed by
Reactome
Source platform or
identifier namespace
Human_Ensembl_Gene_ID
Dataset references
Download gene set
format:
grp
|
gmt
|
xml
|
json
|
TSV metadata
Compute overlaps
?
(
show
collections to investigate for overlap with this gene set)
H: Hallmark
C1: Positional
C2: Curated
CGP: Chemical and Genetic Perturbations
CP: Canonical Pathways
CP:BIOCARTA: BioCarta Pathways
CP:KEGG_MEDICUS: KEGG Medicus Pathways
CP:PID: PID Pathways
CP:REACTOME: Reactome Pathways
CP:WIKIPATHWAYS: WikiPathways
CP:KEGG_LEGACY: KEGG Legacy Pathways
C3: Regulatory Target
MIR: microRNA Targets
MIR:MIRDB: miRDB
MIR:MIR_LEGACY: MIR_Legacy
TFT: Transcription Factor Targets
TFT:GTRD: GTRD
TFT:TFT_LEGACY: TFT_Legacy
C4: Computational
3CA: Curated Cancer Cell Atlas gene sets
CGN: Cancer Gene Neighborhoods
CM: Cancer Modules
C5: Ontology
GO: Gene Ontology
GO:BP: GO Biological Process
GO:CC: GO Cellular Component
GO:MF: GO Molecular Function
HPO: Human Phenotype Ontology
C6: Oncogenic Signature
C7: Immunologic Signature
IMMUNESIGDB: ImmuneSigDB
VAX: HIPC Vaccine Response
C8: Cell Type Signature
Compendia expression profiles
?
NG-CHM interactive heatmaps
(
Please note that clustering takes a few seconds
)
GTEx compendium
Human tissue compendium (Novartis)
Global Cancer Map (Broad Institute)
NCI-60 cell lines (National Cancer Institute)
Legacy heatmaps (PNG)
GTEx compendium
Human tissue compendium (Novartis)
Global Cancer Map (Broad Institute)
NCI-60 cell lines (National Cancer Institute)
Advanced query
Further investigate
these 14 genes
Gene families
?
Categorize
these 14 genes by gene family
Show members
(
show
14 source identifiers mapped to 14 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
ENSG00000063660
2817
GPC1
glypican 1 [Source:HGNC Symbol;Acc:H...
ENSG00000076716
2239
GPC4
glypican 4 [Source:HGNC Symbol;Acc:H...
ENSG00000115884
6382
SDC1
syndecan 1 [Source:HGNC Symbol;Acc:H...
ENSG00000124145
6385
SDC4
syndecan 4 [Source:HGNC Symbol;Acc:H...
ENSG00000142798
3339
HSPG2
heparan sulfate proteoglycan 2 [Sour...
ENSG00000147257
2719
GPC3
glypican 3 [Source:HGNC Symbol;Acc:H...
ENSG00000151348
2132
EXT2
exostosin glycosyltransferase 2 [Sou...
ENSG00000162512
9672
SDC3
syndecan 3 [Source:HGNC Symbol;Acc:H...
ENSG00000169439
6383
SDC2
syndecan 2 [Source:HGNC Symbol;Acc:H...
ENSG00000179399
2262
GPC5
glypican 5 [Source:HGNC Symbol;Acc:H...
ENSG00000182197
2131
EXT1
exostosin glycosyltransferase 1 [Sou...
ENSG00000183098
10082
GPC6
glypican 6 [Source:HGNC Symbol;Acc:H...
ENSG00000188157
375790
AGRN
agrin [Source:HGNC Symbol;Acc:HGNC:329]
ENSG00000213420
221914
GPC2
glypican 2 [Source:HGNC Symbol;Acc:H...
Version history
2024.1.Hs: Updated to Reactome v89
See
MSigDB license terms here
. Please note that certain gene sets have special access terms.