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NF1 and SDC2
Data Source:
BioGRID
(two hybrid)
HPRD
(in vitro, in vivo, two hybrid)
NF1
SDC2
Description
neurofibromin 1
syndecan 2
Image
GO Annotations
Cellular Component
Nucleus
Nucleolus
Cytoplasm
Cytosol
Membrane
Axon
Dendrite
Endoplasmic Reticulum Lumen
Golgi Lumen
Plasma Membrane
Cell Surface
Integral Component Of Membrane
Lysosomal Lumen
Collagen-containing Extracellular Matrix
Molecular Function
GTPase Activator Activity
Protein Binding
Phosphatidylethanolamine Binding
Phosphatidylcholine Binding
Protein Binding
PDZ Domain Binding
Identical Protein Binding
Biological Process
MAPK Cascade
Osteoblast Differentiation
Metanephros Development
Response To Hypoxia
Liver Development
Negative Regulation Of Endothelial Cell Proliferation
Regulation Of Cell-matrix Adhesion
Negative Regulation Of Protein Kinase Activity
Cell Communication
Ras Protein Signal Transduction
Negative Regulation Of Neuroblast Proliferation
Brain Development
Peripheral Nervous System Development
Heart Development
Visual Learning
Schwann Cell Development
Phosphatidylinositol 3-kinase Signaling
Spinal Cord Development
Forebrain Astrocyte Development
Cerebral Cortex Development
Myelination In Peripheral Nervous System
Actin Cytoskeleton Organization
Extracellular Matrix Organization
Collagen Fibril Organization
Adrenal Gland Development
Negative Regulation Of Cell Migration
Wound Healing
Positive Regulation Of Apoptotic Process
Regulation Of GTPase Activity
Negative Regulation Of MAP Kinase Activity
Negative Regulation Of MAPK Cascade
Pigmentation
Positive Regulation Of Neuron Apoptotic Process
Regulation Of Blood Vessel Endothelial Cell Migration
Positive Regulation Of GTPase Activity
Regulation Of Bone Resorption
Regulation Of Glial Cell Differentiation
Positive Regulation Of Adenylate Cyclase Activity
Regulation Of Angiogenesis
Negative Regulation Of Fibroblast Proliferation
Sympathetic Nervous System Development
Camera-type Eye Morphogenesis
Negative Regulation Of Oligodendrocyte Differentiation
Smooth Muscle Tissue Development
Artery Morphogenesis
Forebrain Morphogenesis
Cognition
Retinoid Metabolic Process
Glycosaminoglycan Biosynthetic Process
Glycosaminoglycan Catabolic Process
Biological_process
Cell Migration
Post-translational Protein Modification
Cellular Protein Metabolic Process
Ephrin Receptor Signaling Pathway
Dendrite Morphogenesis
Regulation Of Dendrite Morphogenesis
Leukocyte Migration
Pathways
Regulation of RAS by GAPs
RAS signaling downstream of NF1 loss-of-function variants
A tetrasaccharide linker sequence is required for GAG synthesis
HS-GAG biosynthesis
HS-GAG biosynthesis
HS-GAG degradation
Cell surface interactions at the vascular wall
Syndecan interactions
Syndecan interactions
Defective B4GALT7 causes EDS, progeroid type
Defective B3GAT3 causes JDSSDHD
Defective EXT2 causes exostoses 2
Defective EXT1 causes exostoses 1, TRPS2 and CHDS
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
EPHB-mediated forward signaling
Defective B3GALT6 causes EDSP2 and SEMDJL1
Post-translational protein phosphorylation
Retinoid metabolism and transport
Drugs
Sargramostim
Diseases
Noonan syndrome and related disorders, including: Noonan syndrome (NS); Leopard syndrome (LS); Noonan syndrome-like with loose anagen hair (NS/LAH); CBL-mutation associated syndrome (CBL); Neurofibromatosis type 1 (NF1); Neurofibromatosis type 2 (NF2); Neurofibromatosis-Noonan syndrome (NFNS); Legius syndrome; Cardiofaciocutaneous syndrome (CFCS); Costello syndrome (CS)
GWAS
Adventurousness (
30643258
)
Apolipoprotein B levels (
32203549
)
Bitter alcoholic beverage consumption (
31046077
)
Body size at age 10 (
32376654
)
Brain morphology (MOSTest) (
32665545
)
Endometrial cancer (
30093612
)
Endometrial cancer (endometrioid histology) (
30093612
)
Familial squamous cell lung carcinoma (
29924316
)
Feeling nervous (
29500382
)
General risk tolerance (MTAG) (
30643258
)
Hip circumference (
25673412
)
Hip circumference adjusted for BMI (
28552196
)
LDL cholesterol levels (
32203549
)
Low density lipoprotein cholesterol levels (
32154731
)
Monocyte percentage of white cells (
32888494
)
Oily fish consumption (
32066663
)
Platelet count (
32888494
)
Plateletcrit (
32888494
)
Pork consumption (
32066663
)
Total cholesterol levels (
29083408
)
Type 2 diabetes (
30297969
32499647
)
Post-traumatic stress disorder (
26114229
)
Refractive error (
32231278
)
Interacting Genes
16 interacting genes:
AKT1
APP
CLK1
DNAJC7
EPHA2
GRIN1
GRIN2D
HRAS
HTR6
LIMK2
MAP2K3
RAF1
SDC2
SOX4
TBPL1
VCP
28 interacting genes:
ANOS1
ASPH
BAG6
CASK
CSF2
CYP2C18
EPHB2
EZR
FGF2
FN1
HGF
ITGB4
LAMA3
NF1
PF4
PPP3CC
PRKCA
PRKCB
PRKCG
REG3A
SDCBP
SERPINA1
SERPINC1
SPARC
TGFB1
TGFBR3
TNFSF13
TRAPPC4
Entrez ID
4763
6383
HPRD ID
01203
00803
Ensembl ID
ENSG00000196712
ENSG00000169439
Uniprot IDs
P21359
A0A024R9D1
E9PBI9
P34741
PDB IDs
1NF1
2D4Q
2E2X
3P7Z
3PEG
3PG7
6OB2
6OB3
6V65
6V6F
6ITH
Enriched GO Terms of Interacting Partners
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Tagcloud (Intersection)
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