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EXT2 and SMN1
Number of citations of the paper that reports this interaction (PubMedID
21900206
)
0
Data Source:
BioGRID
(two hybrid)
EXT2
SMN1
Description
exostosin glycosyltransferase 2
survival of motor neuron 1, telomeric
Image
GO Annotations
Cellular Component
Golgi Membrane
Extracellular Region
Endoplasmic Reticulum
Endoplasmic Reticulum Membrane
Golgi Apparatus
Membrane
UDP-N-acetylglucosamine Transferase Complex
Extracellular Exosome
Catalytic Complex
Nucleus
Nucleoplasm
Cytoplasm
Cytosol
Cajal Body
Nuclear Body
Z Disc
Axon
SMN Complex
SMN-Sm Protein Complex
Cytoplasmic Ribonucleoprotein Granule
Cell Projection
Neuron Projection
Perikaryon
Gemini Of Cajal Bodies
Molecular Function
Protein Binding
Acetylglucosaminyltransferase Activity
Glucuronosyltransferase Activity
Transferase Activity
Glycosyltransferase Activity
Heparan Sulfate N-acetylglucosaminyltransferase Activity
Protein Homodimerization Activity
Metal Ion Binding
Protein Heterodimerization Activity
Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase Activity
N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase Activity
RNA Binding
Protein Binding
Identical Protein Binding
Biological Process
Polysaccharide Biosynthetic Process
Ossification
Mesoderm Formation
Chondrocyte Differentiation
Glycosaminoglycan Biosynthetic Process
Protein Glycosylation
Protein N-linked Glycosylation
Regulation Of Blood Pressure
Gene Expression
Heparan Sulfate Proteoglycan Biosynthetic Process
Heparin Proteoglycan Biosynthetic Process
Fluid Transport
Vasodilation
Cellular Response To Fibroblast Growth Factor Stimulus
Multicellular Organismal-level Water Homeostasis
Sulfation
Sodium Ion Homeostasis
Heart Contraction
Endochondral Bone Morphogenesis
Spliceosomal Complex Assembly
RNA Splicing, Via Transesterification Reactions
Spliceosomal SnRNP Assembly
DNA-templated Transcription Termination
MRNA Processing
Nervous System Development
RNA Splicing
Pathways
HS-GAG biosynthesis
Defective EXT2 causes exostoses 2
Defective EXT1 causes exostoses 1, TRPS2 and CHDS
snRNP Assembly
SARS-CoV-2 modulates host translation machinery
Drugs
Nusinersen
Diseases
Multiple exostoses
Heparan sulfate proteoglycan gene defects, including: Dyssegmental dysplasia, Silverman-Handmaker type; Schwartz-Jampel syndrome; Simpson-Golabi-Behmel syndrome, type 1; Omodysplasia 1; Multiple exostoses
Spinal muscular atrophy (SMA), including: SMA type I (SMA1) / Werdning-Hoffman disease; SMA type II (SMA2); SMA type III (SMA3) / Kugeleberg-Welander disease; SMA type IV (SMA4); X-linked SMA 2 (SMAX2); X-linked distal SMA 3 (DSMAX); Distal SMA autosomal recessive type 4 (DSMA4); Congenital distal spinal muscular atrophy (SMAL); SMA proximal adult autosomal dominant (SMAPAD)
GWAS
Gut microbiota (bacterial taxa, hurdle binary method) (
32572223
)
Height (
28552196
)
Refractive error (
32231278
)
Interacting Genes
10 interacting genes:
ANXA7
CDKN1A
EXT1
GALNT5
GSKIP
PFDN1
SMN1
TK1
TRAP1
UBC
166 interacting genes:
A1BG
A2M
ACTB
ACTL6B
ADAMTS10
AGAP1
ANXA2
APLP1
ARFGAP1
ATP5F1B
ATP6V1A
BAG6
BCL2
BLOC1S6
BYSL
CARHSP1
CCDC90B
CENPB
CHTOP
COIL
COL4A2
COL4A5
COPS6
CPNE6
CRIP2
CSAD
DDAH2
DDX20
DHX9
DMPK
DOCK7
DUS2
DYNC1I1
EEF1A1
EEF1A2
EHHADH
EIF3G
EXT2
EZH2
FAM20C
FAM9B
FBL
FGB
FLAD1
FNDC11
FUBP1
FXR1
GAPDH
GAR1
GDF9
GEMIN2
GEMIN5
GEMIN7
H3-4
HADHB
HMGXB3
HNRNPR
HNRNPU
HNRNPUL1
IGHM
ILF3
IMMT
INPP5K
IQUB
ITCH
JADE1
KDM1A
KIF5A
KLHL5
KMT2B
KPNB1
KRTAP19-6
KRTAP19-7
KRTAP21-2
KRTAP6-1
KRTAP6-2
LENG8
LRIF1
LSM1
LSM10
LSM11
LSM2
LSM3
LSM4
LSM5
LSM6
LSM7
MAGED1
MAST2
MED31
MKI67
MPP1
MRPL37
MSH2
NEURL2
NGFR
NKIRAS2
NMT2
NRN1
NTAQ1
OSTF1
PDE4DIP
PKM
PLXNA3
POLR1C
POLR2A
POP7
PPIG
PSME1
QARS1
RBBP4
RBBP6
RBFOX2
RBM48
REX1BD
RN7SL1
RNU1-1
RNU11
RNU2-1
RNU4-1
RPL13
RPS2
RXRA
SCARNA1
SDF4
SELENOW
SEMA5B
SETDB1
SMC5
SMN2
SNORA81
SNRPB
SNRPD1
SNRPD2
SNRPD3
SNRPE
SNU13
SNUPN
SP110
SPANXN2
STRAP
STXBP2
STXBP3
SULT1A3
SUMO3
SYNCRIP
TAF1C
TERC
TIAL1
TLE1
TMSB4X
TP53
TRMT2A
TUBA1A
TUBB3
UCHL1
UNC119
USP4
VPS28
WDR18
WDR73
WIZ
ZBTB16
ZNF431
ZRANB2
ZXDC
Entrez ID
2132
6606
HPRD ID
00599
02646
Ensembl ID
ENSG00000151348
ENSG00000172062
Uniprot IDs
Q93063
B4DP61
E7EQZ4
Q16637
PDB IDs
7SCH
7SCJ
7SCK
7UQX
7UQY
7ZAY
1G5V
1MHN
2LEH
4A4E
4A4G
4GLI
4QQ6
5XJL
5XJQ
5XJR
5XJS
5XJT
5XJU
7W2P
7W30
Enriched GO Terms of Interacting Partners
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Glycosaminoglycan Biosynthetic Process
Negative Regulation Of Kinase Activity
Protein Kinase Inhibitor Activity
PCNA-p21 Complex
Negative Regulation Of Cardiac Muscle Tissue Regeneration
Wound Healing
Negative Regulation Of Protein Kinase Activity
N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase Activity
Lymphocyte Adhesion To Endothelial Cell Of High Endothelial Venule
Glycosaminoglycan Metabolic Process
Mesenchymal Cell Differentiation Involved In Bone Development
Stomach Development
Perichondral Bone Morphogenesis
Sweat Gland Development
Smoothened Signaling Pathway Involved In Lung Development
Heparan Sulfate N-acetylglucosaminyltransferase Activity
Thymidine Kinase Activity
Translational Attenuation
Epithelial Cell Differentiation
Negative Regulation Of Protein Phosphorylation
Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase Activity
DNA Synthesis Involved In Mitotic DNA Replication
Kinase Regulator Activity
Protein Kinase Binding
Protein O-linked Glycosylation
Unfolded Protein Binding
Negative Regulation Of Phosphorylation
Carbohydrate Derivative Biosynthetic Process
Cellular Response To Cell-matrix Adhesion
Regulation Of Reactive Oxygen Species Metabolic Process
Negative Regulation Of Catalytic Activity
Negative Regulation Of Phosphate Metabolic Process
Oncogene-induced Cell Senescence
Stress-induced Premature Senescence
Negative Regulation Of Protein Metabolic Process
Response To Heparin
Embryonic Skeletal Joint Development
Protein Glycosylation
Limb Joint Morphogenesis
Glycosylation
Macromolecule Glycosylation
Heparin Proteoglycan Biosynthetic Process
Chondrocyte Hypertrophy
Endochondral Bone Morphogenesis
Hematopoietic Stem Cell Migration To Bone Marrow
Prefoldin Complex
Thymidine Metabolic Process
Thymidine Biosynthetic Process
Negative Regulation Of Intrinsic Apoptotic Signaling Pathway In Response To Hydrogen Peroxide
Intrinsic Apoptotic Signaling Pathway
Spliceosomal SnRNP Assembly
RNA Binding
MRNA Metabolic Process
RNA Splicing
MRNA Processing
RNA Splicing, Via Transesterification Reactions
SMN-Sm Protein Complex
RNA Processing
Ribonucleoprotein Complex
U4/U6 X U5 Tri-snRNP Complex
Protein-RNA Complex Assembly
MRNA Splicing, Via Spliceosome
RNA Metabolic Process
U2-type Precatalytic Spliceosome
Spliceosomal Complex
Lsm2-8 Complex
Nucleobase-containing Compound Metabolic Process
Nucleic Acid Metabolic Process
U6 SnRNP
Lsm1-7-Pat1 Complex
Nucleoplasm
Precatalytic Spliceosome
SMN Complex
U4 SnRNP
Catalytic Step 2 Spliceosome
Telomerase Holoenzyme Complex
U7 SnRNP
Macromolecule Metabolic Process
7-methylguanosine Cap Hypermethylation
Small Nuclear Ribonucleoprotein Complex
Nucleus
Gemini Of Cajal Bodies
Methylosome
U12-type Spliceosomal Complex
PICln-Sm Protein Complex
Spliceosomal Tri-snRNP Complex
Cytosol
U2 SnRNP
Spliceosomal Complex Assembly
Protein-containing Complex Assembly
U1 SnRNP
U7 SnRNA Binding
U5 SnRNP
Cytoplasm
Cajal Body
Histone Pre-mRNA DCP Binding
U2-type Prespliceosome Assembly
Protein-containing Complex Organization
U6 SnRNA Binding
Promoter-specific Chromatin Binding
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Tagcloud (Intersection)
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