Showing entry for Neurofibromatosis 2


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD002048
Disease NameNeurofibromatosis 2
Disease CUI IdC0027832
MeSH Codes C16   C04   C10   C09  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases
Semantic TypeNeoplastic Process
Human Phenotype Ontology Id   
Human Phenotype Ontology Term
Disease Ontology Id DOID:630  
Disease Ontology Class Namegenetic disease
Disorder Network disorder-protein-compound-food associations
The  disease-related  target proteins
Proteins
Uniport Id BXGT Id Protein Name Gene Status Protein Class
Uniport Id BXGT Id Protein name Gene Status Protein class
O00141 BXGT003882 Serine/threonine-protein kinase Sgk1 6446 reviewed Kinase
O00255 BXGT003903 Menin 4221 reviewed
O00329 BXGT003909 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform 5293 reviewed Kinase
O14964 BXGT004116 Hepatocyte growth factor-regulated tyrosine kinase substrate 9146 reviewed
O15553 BXGT004181 Pyrin 4210 reviewed
O75581 BXGT005136 Low-density lipoprotein receptor-related protein 6 4040 reviewed
P00533 BXGT005575 Epidermal growth factor receptor 1956 reviewed Kinase
P00747 BXGT005639 Plasminogen 5340 reviewed Enzyme
P00750 BXGT005642 Tissue-type plasminogen activator 5327 reviewed Enzyme
P01133 BXGT005736 Pro-epidermal growth factor 1950 reviewed
P01584 BXGT005772 Interleukin-1 beta 3553 reviewed
P03372 BXGT006059 Estrogen receptor 2099 reviewed Nuclear receptor
P04004 BXGT006125 Vitronectin 7448 reviewed
P04626 BXGT006238 Receptor tyrosine-protein kinase erbB-2 2064 reviewed Kinase
P04637 BXGT006243 Cellular tumor antigen p53 7157 reviewed Transcription factor
P05121 BXGT006320 Plasminogen activator inhibitor 1 5054 reviewed Enzyme modulator
P06401 BXGT006436 Progesterone receptor 5241 reviewed Nuclear receptor
P10415 BXGT007567 Apoptosis regulator Bcl-2 596 reviewed Signaling
P10644 BXGT007597 cAMP-dependent protein kinase type I-alpha regulatory subunit 5573 reviewed
P11274 BXGT007681 Breakpoint cluster region protein 613 reviewed Enzyme modulator
P11511 BXGT007717 Aromatase 1588 reviewed Enzyme
P12081 BXGT007772 Histidine--tRNA ligase, cytoplasmic 3035 reviewed Enzyme
P12931 BXGT007859 Proto-oncogene tyrosine-protein kinase Src 6714 reviewed Kinase
P15311 BXGT008106 Ezrin 7430 reviewed Cellular structure
P15692 BXGT008147 Vascular endothelial growth factor A 7422 reviewed Signaling
P16070 BXGT008186 CD44 antigen 960 reviewed
P17948 BXGT008358 Vascular endothelial growth factor receptor 1 2321 reviewed Kinase
P21359 BXGT008640 Neurofibromin 4763 reviewed Enzyme modulator
P21709 BXGT008685 Ephrin type-A receptor 1 2041 reviewed Kinase
P26358 BXGT009104 DNA (cytosine-5)-methyltransferase 1 1786 reviewed Epigenetic regulator
P30086 BXGT009400 Phosphatidylethanolamine-binding protein 1 5037 reviewed Enzyme modulator
P35222 BXGT009799 Catenin beta-1 1499 reviewed
P35354 BXGT009816 Prostaglandin G/H synthase 2 5743 reviewed Enzyme
P35968 BXGT009887 Vascular endothelial growth factor receptor 2 3791 reviewed Kinase
P36507 BXGT009923 Dual specificity mitogen-activated protein kinase kinase 2 5605 reviewed Kinase
P38398 BXGT010037 Breast cancer type 1 susceptibility protein 672 reviewed Enzyme
P40337 BXGT010174 von Hippel-Lindau disease tumor suppressor 7428 reviewed Enzyme
P40763 BXGT010202 Signal transducer and activator of transcription 3 6774 reviewed Nucleic acid binding
P41161 BXGT010229 ETS translocation variant 5 2119 reviewed Transcription factor
P41222 BXGT010237 Prostaglandin-H2 D-isomerase 5730 reviewed Enzyme
P42336 BXGT010302 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform 5290 reviewed Kinase
P42338 BXGT010303 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform 5291 reviewed Kinase
P42345 BXGT010304 Serine/threonine-protein kinase mTOR 2475 reviewed Kinase
P43405 BXGT010386 Tyrosine-protein kinase SYK 6850 reviewed Kinase
P46937 BXGT010554 Transcriptional coactivator YAP1 10413 reviewed Enzyme modulator
P48736 BXGT010658 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform 5294 reviewed Kinase
P49023 BXGT010672 Paxillin 5829 reviewed Cellular structure
P49327 BXGT010694 Fatty acid synthase 2194 reviewed Enzyme
P52788 BXGT010953 Spermine synthase 6611 reviewed
P53667 BXGT011008 LIM domain kinase 1 3984 reviewed Kinase
P53671 BXGT011009 LIM domain kinase 2 3985 reviewed Kinase
P60709 BXGT011322 Actin, cytoplasmic 1 60 reviewed Cellular structure
P61073 BXGT011352 C-X-C chemokine receptor type 4 7852 reviewed G-protein coupled receptor
P63000 BXGT011481 Ras-related C3 botulinum toxin substrate 1 5879 reviewed Enzyme modulator
Q00987 BXGT012559 E3 ubiquitin-protein ligase Mdm2 4193 reviewed Nucleic acid binding
Q02750 BXGT012662 Dual specificity mitogen-activated protein kinase kinase 1 5604 reviewed Kinase
Q12913 BXGT013279 Receptor-type tyrosine-protein phosphatase eta 5795 reviewed Enzyme
Q13126 BXGT013313 S-methyl-5'-thioadenosine phosphorylase 4507 reviewed Enzyme
Q13153 BXGT013319 Serine/threonine-protein kinase PAK 1 5058 reviewed Kinase
Q15063 BXGT013531 Periostin 10631 reviewed Signaling
Q15562 BXGT013579 Transcriptional enhancer factor TEF-4 8463 reviewed Transcription factor
Q15843 BXGT013608 NEDD8 4738 reviewed Nucleic acid binding
Q8IXJ6 BXGT018362 NAD-dependent protein deacetylase sirtuin-2 22933 reviewed Epigenetic regulator
Q969G3 BXGT019607 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1 6605 reviewed
Q96F46 BXGT019656 Interleukin-17 receptor A 23765 reviewed
Q96HC4 BXGT019671 PDZ and LIM domain protein 5 10611 reviewed Cellular structure
Q9HD26 BXGT020540 Golgi-associated PDZ and coiled-coil motif-containing protein 57120 reviewed
Q9NRM7 BXGT021190 Serine/threonine-protein kinase LATS2 26524 reviewed Kinase
Q9UKV8 BXGT021752 Protein argonaute-2 27161 reviewed
Q9Y4B6 BXGT022272 DDB1- and CUL4-associated factor 1 9730 reviewed
Q9Y6K1 BXGT022331 DNA (cytosine-5)-methyltransferase 3A 1788 reviewed
Q9Y6X9 BXGT022345 ATPase MORC2 22880 reviewed
P35240 BXGT022927 Merlin 4771 reviewed
Q8IX03 BXGT024000 Protein KIBRA 23286 reviewed
P00403 BXGT026137 Cytochrome c oxidase subunit 2 4513 reviewed Enzyme
P43320 BXGT026151 Beta-crystallin B2 1415 reviewed
The  disease-related  compounds
Compounds
BXGC Id Compound Name Structure Molecular Weight Number of targets?Number of times compound connecting the disease , higher numbers indicate the compound is more associated with the disease
The  disease-related  foods
Foods
BXGF Id Food Name Scientific Name Food Group Number of compounds in food?Number of compounds in food that connecting disease, higher numbers indicate the more compounds in food are more associated with the dusease