Property Summary

NCBI Gene PubMed Count 277
Grant Count 168
R01 Count 93
Funding $16,555,862.81
PubMed Score 426.79
PubTator Score 721.71

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (13)

Disease log2 FC p
glioblastoma 2.000 0.000
malignant mesothelioma 3.800 0.000
psoriasis -3.400 0.000
cystic fibrosis -3.424 0.000
atypical teratoid / rhabdoid tumor 2.800 0.000
primitive neuroectodermal tumor 1.200 0.000
primary pancreatic ductal adenocarcinoma 1.410 0.006
non-small cell lung cancer 1.181 0.000
lung cancer 1.100 0.000
pediatric high grade glioma 1.400 0.000
Alzheimer's disease 1.100 0.043
gastric carcinoma 1.900 0.006
pancreatic cancer 1.200 0.006

Synonym

Accession Q9UM47 Q9UEB3 Q9UPL3 Q9Y6L8 Notch 3
Symbols IMF2
LMNS
CASIL
CADASIL
CADASIL1

Gene

PDB

4ZLP   5CZV   5CZX  

Gene RIF (256)

PMID Text
27455010 A rare 2182C>T mutation in exon 14 of the NOTCH3 gene was identified in all available cases
26977885 The therapeutic potential of PKCiota-ELF3-NOTCH3 signal inhibition to more effectively treat KRAS LADC.
26912635 Transfection of antisense oligonucleotides into CADASIL patient-derived cerebral vascular smooth muscle cells resulted in exon skipping in NOTCH3 protein without abrogating signalling.
26858125 IL6/Notch3 signaling mediates hormone therapy resistance in metastatic breast cancer via self renewal of cancer stem cells.
26838758 Loss of Notch3 expression is associated with small cell lung carcinoma.
26715087 This study developed a novel, unique human NOTCH3 transgenic mouse model and a NOTCH3 score which is a robust and sensitive biomarker for CADASIL.
26640406 Notch2 and Notch3 inhibited both cell proliferation and cell apoptosis in BeWo and JAR trophoblast cell lines.
26308724 Mutations in NOTCH3 were associated with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.
26270344 Study reports a family with CADASIL in Rungus ethnicity and identifies a missense mutation (c.160C>T) in exon 2 of NOTCH3.
26051713 A NOTCH3 negative regulatory region (NRR) maintains receptor quiescence by preventing protease cleavage prior to ligand binding.
More...

AA Sequence

MGPGARGRRRRRRPMSPPPPPPPVRALPLLLLLAGPGAAAPPCLDGSPCANGGRCTQLPSREAACLCPPG      1 - 70
WVGERCQLEDPCHSGPCAGRGVCQSSVVAGTARFSCRCPRGFRGPDCSLPDPCLSSPCAHGARCSVGPDG     71 - 140
RFLCSCPPGYQGRSCRSDVDECRVGEPCRHGGTCLNTPGSFRCQCPAGYTGPLCENPAVPCAPSPCRNGG    141 - 210
TCRQSGDLTYDCACLPGFEGQNCEVNVDDCPGHRCLNGGTCVDGVNTYNCQCPPEWTGQFCTEDVDECQL    211 - 280
QPNACHNGGTCFNTLGGHSCVCVNGWTGESCSQNIDDCATAVCFHGATCHDRVASFYCACPMGKTGLLCH    281 - 350
LDDACVSNPCHEDAICDTNPVNGRAICTCPPGFTGGACDQDVDECSIGANPCEHLGRCVNTQGSFLCQCG    351 - 420
RGYTGPRCETDVNECLSGPCRNQATCLDRIGQFTCICMAGFTGTYCEVDIDECQSSPCVNGGVCKDRVNG    421 - 490
FSCTCPSGFSGSTCQLDVDECASTPCRNGAKCVDQPDGYECRCAEGFEGTLCDRNVDDCSPDPCHHGRCV    491 - 560
DGIASFSCACAPGYTGTRCESQVDECRSQPCRHGGKCLDLVDKYLCRCPSGTTGVNCEVNIDDCASNPCT    561 - 630
FGVCRDGINRYDCVCQPGFTGPLCNVEINECASSPCGEGGSCVDGENGFRCLCPPGSLPPLCLPPSHPCA    631 - 700
HEPCSHGICYDAPGGFRCVCEPGWSGPRCSQSLARDACESQPCRAGGTCSSDGMGFHCTCPPGVQGRQCE    701 - 770
LLSPCTPNPCEHGGRCESAPGQLPVCSCPQGWQGPRCQQDVDECAGPAPCGPHGICTNLAGSFSCTCHGG    771 - 840
YTGPSCDQDINDCDPNPCLNGGSCQDGVGSFSCSCLPGFAGPRCARDVDECLSNPCGPGTCTDHVASFTC    841 - 910
TCPPGYGGFHCEQDLPDCSPSSCFNGGTCVDGVNSFSCLCRPGYTGAHCQHEADPCLSRPCLHGGVCSAA    911 - 980
HPGFRCTCLESFTGPQCQTLVDWCSRQPCQNGGRCVQTGAYCLCPPGWSGRLCDIRSLPCREAAAQIGVR    981 - 1050
LEQLCQAGGQCVDEDSSHYCVCPEGRTGSHCEQEVDPCLAQPCQHGGTCRGYMGGYMCECLPGYNGDNCE   1051 - 1120
DDVDECASQPCQHGGSCIDLVARYLCSCPPGTLGVLCEINEDDCGPGPPLDSGPRCLHNGTCVDLVGGFR   1121 - 1190
CTCPPGYTGLRCEADINECRSGACHAAHTRDCLQDPGGGFRCLCHAGFSGPRCQTVLSPCESQPCQHGGQ   1191 - 1260
CRPSPGPGGGLTFTCHCAQPFWGPRCERVARSCRELQCPVGVPCQQTPRGPRCACPPGLSGPSCRSFPGS   1261 - 1330
PPGASNASCAAAPCLHGGSCRPAPLAPFFRCACAQGWTGPRCEAPAAAPEVSEEPRCPRAACQAKRGDQR   1331 - 1400
CDRECNSPGCGWDGGDCSLSVGDPWRQCEALQCWRLFNNSRCDPACSSPACLYDNFDCHAGGRERTCNPV   1401 - 1470
YEKYCADHFADGRCDQGCNTEECGWDGLDCASEVPALLARGVLVLTVLLPPEELLRSSADFLQRLSAILR   1471 - 1540
TSLRFRLDAHGQAMVFPYHRPSPGSEPRARRELAPEVIGSVVMLEIDNRLCLQSPENDHCFPDAQSAADY   1541 - 1610
LGALSAVERLDFPYPLRDVRGEPLEPPEPSVPLLPLLVAGAVLLLVILVLGVMVARRKREHSTLWFPEGF   1611 - 1680
SLHKDVASGHKGRREPVGQDALGMKNMAKGESLMGEVATDWMDTECPEAKRLKVEEPGMGAEEAVDCRQW   1681 - 1750
TQHHLVAADIRVAPAMALTPPQGDADADGMDVNVRGPDGFTPLMLASFCGGALEPMPTEEDEADDTSASI   1751 - 1820
ISDLICQGAQLGARTDRTGETALHLAARYARADAAKRLLDAGADTNAQDHSGRTPLHTAVTADAQGVFQI   1821 - 1890
LIRNRSTDLDARMADGSTALILAARLAVEGMVEELIASHADVNAVDELGKSALHWAAAVNNVEATLALLK   1891 - 1960
NGANKDMQDSKEETPLFLAAREGSYEAAKLLLDHFANREITDHLDRLPRDVAQERLHQDIVRLLDQPSGP   1961 - 2030
RSPPGPHGLGPLLCPPGAFLPGLKAAQSGSKKSRRPPGKAGLGPQGPRGRGKKLTLACPGPLADSSVTLS   2031 - 2100
PVDSLDSPRPFGGPPASPGGFPLEGPYAAATATAVSLAQLGGPGRAGLGRQPPGGCVLSLGLLNPVAVPL   2101 - 2170
DWARLPPPAPPGPSFLLPLAPGPQLLNPGTPVSPQERPPPYLAVPGHGEEYPAAGAHSSPPKARFLRVPS   2171 - 2240
EHPYLTPSPESPEHWASPSPPSLSDWSESTPSPATATGAMATTTGALPAQPLPLSVPSSLAQAQTQLGPQ   2241 - 2310
PEVTPKRQVLA                                                              2311 - 2321
//

Text Mined References (293)

PMID Year Title
27455010 2016 [Study of a CADASIL family with migraine as the presenting symptom].
26977885 2016 Protein Kinase C? Drives a NOTCH3-dependent Stem-like Phenotype in Mutant KRAS Lung Adenocarcinoma.
26912635 2016 Therapeutic NOTCH3 cysteine correction in CADASIL using exon skipping: in vitro proof of concept.
26858125 2016 Self-renewal of CD133(hi) cells by IL6/Notch3 signalling regulates endocrine resistance in metastatic breast cancer.
26838758 2016 Evaluation of role of Notch3 signaling pathway in human lung cancer cells.
26715087 2015 The NOTCH3 score: a pre-clinical CADASIL biomarker in a novel human genomic NOTCH3 transgenic mouse model with early progressive vascular NOTCH3 accumulation.
26640406 2015 Effects of Notch2 and Notch3 on Cell Proliferation and Apoptosis of Trophoblast Cell Lines.
26308724 2015 Characterization of CADASIL among the Han Chinese in Taiwan: Distinct Genotypic and Phenotypic Profiles.
26270344 2015 R54C Mutation of NOTCH3 Gene in the First Rungus Family with CADASIL.
26051713 2015 Insights into Autoregulation of Notch3 from Structural and Functional Studies of Its Negative Regulatory Region.
More...