full name
notch 3

synonyms
CADASIL, CASIL, IMF2, NOTCH3, ENSG00000074181

HGNC
HGNC:7883

Entrez Gene
Gene:4854

ENSEMBL
ENSG00000074181

location
chr: 19
start: 15270444
stop: 15311792
strand: -

OMIM
OMIM:600276: NOTCH3 (Autosomal dominant inheritance)
OMIM:615293: ?Myofibromatosis, infantile 2
OMIM:125310: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1
OMIM:130720: Lateral meningocele syndrome

transcripts
NM_000435.2

pathways
Apelin signaling pathway [NCBI:1492886] [KEGG:hsa04371] [PUBMED:23973488] [PUBMED:16182514] [PUBMED:21725702] [PUBMED:22842084] [PUBMED:27825851] [PUBMED:27650065] [PUBMED:22140623] [PUBMED:23943882] [PUBMED:26944568] [PUBMED:24055369] [PUBMED:26385179] [PUBMED:26143239] [PUBMED:22028387] [PUBMED:26254105] [PUBMED:26756969] [PUBMED:22995518] [PUBMED:27979574] [PUBMED:23924696] [PUBMED:21464822] [PUBMED:25914650] [PUBMED:24990699] [PUBMED:26607438] [PUBMED:25164121] [PUBMED:25275559] [PUBMED:25139773] [PUBMED:25931124] [PUBMED:19093215] [PUBMED:20539939] [PUBMED:25652330] [PUBMED:18272138] [PUBMED:23603510]
Breast cancer [NCBI:1435207] [KEGG:hsa05224] [PUBMED:24649067] [PUBMED:26040571] [PUBMED:11879567] [PUBMED:22722193] [PUBMED:26028978] [PUBMED:25013431] [PUBMED:11737884] [PUBMED:23702927] [PUBMED:21076461] [PUBMED:21898546] [PUBMED:27390604] [PUBMED:24291072] [PUBMED:26968398] [PUBMED:20087430] [PUBMED:23000897] [PUBMED:25544707] [PUBMED:24596345] [PUBMED:23988612] [PUBMED:24111892] [PUBMED:25907219] [PUBMED:15343273] [PUBMED:21965336] [PUBMED:23881035] [PUBMED:23196196] [PUBMED:22178455] [PUBMED:20436504] [PUBMED:19088017] [PUBMED:16113099] [PUBMED:20971825]
Defective LFNG causes SCDO3 [NCBI:1383053] [REACTOME:R-HSA-5083630] [PUBMED:16385447] [PUBMED:9187150] [PUBMED:10935637] [PUBMED:9207795]
Disease [NCBI:1268854] [REACTOME:R-HSA-1643685]
Diseases associated with O-glycosylation of proteins [NCBI:1383049] [REACTOME:R-HSA-3906995] [PUBMED:24051442] [PUBMED:24507773]
Diseases of glycosylation [NCBI:1269010] [REACTOME:R-HSA-3781865] [PUBMED:22983739] [PUBMED:12756558] [PUBMED:22343051] [PUBMED:6543331] [PUBMED:16755287] [PUBMED:19765534] [PUBMED:12409504] [PUBMED:22838182] [PUBMED:2301971] [PUBMED:21384229]
Dorso-ventral axis formation [NCBI:114227] [KEGG:hsa04320]
Endocrine resistance [NCBI:1404799] [KEGG:hsa01522] [PUBMED:24415977] [PUBMED:23625614] [PUBMED:24841429] [PUBMED:15613444] [PUBMED:23714450] [PUBMED:20960099] [PUBMED:22771991] [PUBMED:19701242] [PUBMED:24289103] [PUBMED:24130921] [PUBMED:23344024] [PUBMED:22015292] [PUBMED:26122181] [PUBMED:26473850] [PUBMED:18804516] [PUBMED:24565562] [PUBMED:26849149] [PUBMED:25907219] [PUBMED:20887199]
Gene Expression [NCBI:1269649] [REACTOME:R-HSA-74160]
Generic Transcription Pathway [NCBI:1269650] [REACTOME:R-HSA-212436] [PUBMED:15175151] [PUBMED:14744435] [PUBMED:15680972] [PUBMED:11395415] [PUBMED:15896744] [PUBMED:10235266] [PUBMED:14986688] [PUBMED:12023297] [PUBMED:15680973] [PUBMED:16751179] [PUBMED:11861166] [PUBMED:16429119] [PUBMED:16719718] [PUBMED:16921404] [PUBMED:15690163]
MicroRNAs in cancer [NCBI:852705] [KEGG:hsa05206] [PUBMED:23075324] [PUBMED:21742789] [PUBMED:22351564] [PUBMED:18817506] [PUBMED:22345301] [PUBMED:21402473] [PUBMED:22926415] [PUBMED:23165235] [PUBMED:19630570] [PUBMED:21565290] [PUBMED:23091478] [PUBMED:23462054] [PUBMED:23316212] [PUBMED:19773200] [PUBMED:22035854] [PUBMED:20221895] [PUBMED:20345848] [PUBMED:22580099] [PUBMED:20128019]
Notch signaling pathway [NCBI:83062] [KEGG:hsa04330] [NCBI:169345] [Pathway Interaction Database:notch_pathway] [PUBMED:11459941] [PUBMED:12682059] [PUBMED:11825871] [PUBMED:17658278] [PUBMED:15998794] [PUBMED:11101851] [PUBMED:19686683] [PUBMED:18490439] [PUBMED:11150244] [PUBMED:9694793] [PUBMED:10206645] [PUBMED:19704010] [PUBMED:16137758] [PUBMED:15288258] [PUBMED:17392792] [PUBMED:8749394] [PUBMED:15965470] [PUBMED:14566063] [PUBMED:19567869] [PUBMED:11585921] [PUBMED:18676613] [PUBMED:12913000] [PUBMED:10593990] [PUBMED:15274632] [PUBMED:11777909] [PUBMED:12015972] [PUBMED:10028969] [PUBMED:18043734] [PUBMED:17658279] [PUBMED:17575125] [PUBMED:10958687] [PUBMED:15300010] [PUBMED:10882062] [PUBMED:12374742] [PUBMED:11782429] [PUBMED:9653148] [PUBMED:9315665] [PUBMED:8643690] [PUBMED:17114293] [PUBMED:10837024] [PUBMED:15067010] [PUBMED:17296795] [PUBMED:10940313] [PUBMED:18628966] [PUBMED:12826675] [PUBMED:12681948] [PUBMED:16492672] [PUBMED:12551931] [PUBMED:15082708] [PUBMED:12464310] [PUBMED:12794186] [PUBMED:16107360] [PUBMED:19726682] [PUBMED:11486031] [PUBMED:16287852] [PUBMED:12297508] [PUBMED:16061358] [PUBMED:17107962] [PUBMED:9244302] [PUBMED:11425854] [PUBMED:9620803] [PUBMED:15272268] [PUBMED:18417156] [PUBMED:16000382] [PUBMED:11896183] [PUBMED:11604511] [PUBMED:16847353] [PUBMED:11432830] [PUBMED:15652348] [PUBMED:12417415] [PUBMED:14567914] [PUBMED:11006133] [PUBMED:18077452] [PUBMED:16144902] [PUBMED:15288257] [PUBMED:15585829] [PUBMED:12370315] [PUBMED:15288260] [PUBMED:17434929] [PUBMED:12814948] [PUBMED:10882063] [PUBMED:11518718]
Notch-HLH transcription pathway [NCBI:1269651] [REACTOME:R-HSA-350054] [PUBMED:16429119] [PUBMED:12897056] [PUBMED:17157496] [PUBMED:12050117] [PUBMED:11535832] [PUBMED:12374742] [PUBMED:16921404] [PUBMED:11112321] [PUBMED:11604511] [PUBMED:10487760] [PUBMED:16024779] [PUBMED:15546612] [PUBMED:14986688] [PUBMED:12370315] [PUBMED:10713164] [PUBMED:16530045]
Pre-NOTCH Expression and Processing [NCBI:1269531] [REACTOME:R-HSA-1912422] [PUBMED:21490058] [PUBMED:20805998] [PUBMED:21464368] [PUBMED:9187150] [PUBMED:11707585] [PUBMED:10669757] [PUBMED:9244302] [PUBMED:20080834] [PUBMED:18347015] [PUBMED:19773441] [PUBMED:9207795] [PUBMED:10935637] [PUBMED:19714243] [PUBMED:18243100] [PUBMED:19723635] [PUBMED:11524432] [PUBMED:9727485] [PUBMED:12486116] [PUBMED:20495621] [PUBMED:10935626] [PUBMED:20351093] [PUBMED:19701457] [PUBMED:21602795] [PUBMED:21551231] [PUBMED:9653148]
Pre-NOTCH Processing in Golgi [NCBI:1269534] [REACTOME:R-HSA-1912420] [PUBMED:9244302] [PUBMED:1764995] [PUBMED:8681805] [PUBMED:10366590] [PUBMED:10935637] [PUBMED:1295745] [PUBMED:7918097] [PUBMED:10935626] [PUBMED:20170518] [PUBMED:9727485] [PUBMED:19701457] [PUBMED:8293978] [PUBMED:20197277] [PUBMED:9653148] [PUBMED:11135303] [PUBMED:9187150] [PUBMED:11707585] [PUBMED:10459009] [PUBMED:10669757]
Pre-NOTCH Processing in the Endoplasmic Reticulum [NCBI:1269533] [REACTOME:R-HSA-1912399] [PUBMED:21490058] [PUBMED:21464368] [PUBMED:18347015] [PUBMED:11524432] [PUBMED:12486116] [PUBMED:18243100]
Pre-NOTCH Transcription and Translation [NCBI:1269532] [REACTOME:R-HSA-1912408] [PUBMED:9693032] [PUBMED:19773441] [PUBMED:20080834] [PUBMED:20351093] [PUBMED:10545110] [PUBMED:20495621] [PUBMED:19714243] [PUBMED:17823410] [PUBMED:19723635] [PUBMED:17554337] [PUBMED:21602795] [PUBMED:21551231] [PUBMED:1425352] [PUBMED:16773578] [PUBMED:17540598] [PUBMED:7698746] [PUBMED:20805998] [PUBMED:11187898] [PUBMED:1831692] [PUBMED:1764995] [PUBMED:8878478] [PUBMED:17540599]
Signal Transduction [NCBI:1269379] [REACTOME:R-HSA-162582] [PUBMED:17604717] [PUBMED:19648010] [PUBMED:16260143] [PUBMED:11742412] [PUBMED:19536106] [PUBMED:15863030] [PUBMED:19379690] [PUBMED:19458711] [PUBMED:19935667] [PUBMED:21252999] [PUBMED:15520807] [PUBMED:17496910] [PUBMED:15450248] [PUBMED:18043707] [PUBMED:16939974] [PUBMED:19762341] [PUBMED:18483217] [PUBMED:17084981] [PUBMED:21781017] [PUBMED:19619488]
Signaling by NOTCH [NCBI:1269530] [REACTOME:R-HSA-157118]
Signaling by NOTCH3 [NCBI:1269541] [REACTOME:R-HSA-1980148]
Th1 and Th2 cell differentiation [NCBI:1458885] [KEGG:hsa04658] [PUBMED:15819694] [PUBMED:12171942] [PUBMED:19165228] [PUBMED:23336087] [PUBMED:26044597] [PUBMED:19151746] [PUBMED:19362457] [PUBMED:22044277] [PUBMED:11752608] [PUBMED:23405903] [PUBMED:19375293] [PUBMED:24113868] [PUBMED:19151747] [PUBMED:23624818] [PUBMED:22566933] [PUBMED:11121747] [PUBMED:20969597] [PUBMED:20065998]
Thyroid hormone signaling pathway [NCBI:946598] [KEGG:hsa04919] [PUBMED:20005976] [PUBMED:17983645] [PUBMED:15345678] [PUBMED:16951130] [PUBMED:16214361] [PUBMED:18329679] [PUBMED:20051527] [PUBMED:17574003] [PUBMED:19716314] [PUBMED:19755667] [PUBMED:20868274] [PUBMED:21835053] [PUBMED:16051672] [PUBMED:19295177] [PUBMED:23021374] [PUBMED:22484490]