full name
notch 2

synonyms
AGS2, HJCYS, hN2, NOTCH2, ENSG00000134250

HGNC
HGNC:7882

Entrez Gene
Gene:4853

ENSEMBL
ENSG00000134250

location
chr: 1
start: 120454176
stop: 120639880
strand: -

OMIM
OMIM:600275: NOTCH2 (Autosomal dominant inheritance)
OMIM:610205: Alagille syndrome 2
OMIM:102500: Hajdu-Cheney syndrome

transcripts
NM_024408.3
NM_001200001.1

pathways
Defective LFNG causes SCDO3 [NCBI:1383053] [REACTOME:R-HSA-5083630] [PUBMED:16385447] [PUBMED:9187150] [PUBMED:10935637] [PUBMED:9207795]
Delta-Notch Signaling Pathway [NCBI:198879] [WikiPathways:WP61]
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:12756558] [PUBMED:22983739] [PUBMED:6543331] [PUBMED:16755287] [PUBMED:12409504] [PUBMED:19765534] [PUBMED:22838182] [PUBMED:2301971] [PUBMED:21384229] [PUBMED:22343051]
Dorso-ventral axis formation [NCBI:114227] [KEGG:hsa04320]
Gene Expression [NCBI:1269649] [REACTOME:R-HSA-74160]
Generic Transcription Pathway [NCBI:1269650] [REACTOME:R-HSA-212436] [PUBMED:15680972] [PUBMED:14744435] [PUBMED:15175151] [PUBMED:15896744] [PUBMED:11395415] [PUBMED:10235266] [PUBMED:12023297] [PUBMED:14986688] [PUBMED:15680973] [PUBMED:16751179] [PUBMED:16719718] [PUBMED:11861166] [PUBMED:16429119] [PUBMED:15690163] [PUBMED:16921404]
MicroRNAs in cancer [NCBI:852705] [KEGG:hsa05206] [PUBMED:23075324] [PUBMED:22351564] [PUBMED:21742789] [PUBMED:21402473] [PUBMED:21565290] [PUBMED:23091478] [PUBMED:23316212] [PUBMED:19630570] [PUBMED:19773200] [PUBMED:23462054] [PUBMED:20345848] [PUBMED:22035854] [PUBMED:20221895] [PUBMED:22580099] [PUBMED:20128019] [PUBMED:18817506] [PUBMED:22345301] [PUBMED:22926415] [PUBMED:23165235]
NOTCH2 Activation and Transmission of Signal to the Nucleus [NCBI:1269539] [REACTOME:R-HSA-2979096] [PUBMED:11518718] [PUBMED:10206645] [PUBMED:14567914] [PUBMED:10934472] [PUBMED:10551863] [PUBMED:15569487] [PUBMED:10958687] [PUBMED:21632553] [PUBMED:20156974] [PUBMED:18469519]
NOTCH2 intracellular domain regulates transcription [NCBI:1269540] [REACTOME:R-HSA-2197563] [PUBMED:18724371] [PUBMED:23362348] [PUBMED:23362349] [PUBMED:11986231] [PUBMED:11866432] [PUBMED:11101851] [PUBMED:21898486]
Neural Crest Differentiation [NCBI:672460] [WikiPathways:WP2064] [PUBMED:14973296] [PUBMED:21108791] [PUBMED:16845469] [PUBMED:21784065] [PUBMED:15944192] [PUBMED:16402914] [PUBMED:19575671] [PUBMED:20083100]
Notch Signaling Pathway [NCBI:198891] [WikiPathways:WP268] [PUBMED:9245493]
Notch signaling pathway [NCBI:83062] [KEGG:hsa04330] [NCBI:169345] [Pathway Interaction Database:notch_pathway] [PUBMED:17658278] [PUBMED:11459941] [PUBMED:11825871] [PUBMED:12682059] [PUBMED:15998794] [PUBMED:18490439] [PUBMED:10206645] [PUBMED:11101851] [PUBMED:9694793] [PUBMED:11150244] [PUBMED:19686683] [PUBMED:17392792] [PUBMED:19704010] [PUBMED:11585921] [PUBMED:16137758] [PUBMED:15288258] [PUBMED:18676613] [PUBMED:8749394] [PUBMED:18043734] [PUBMED:15274632] [PUBMED:19567869] [PUBMED:14566063] [PUBMED:15965470] [PUBMED:11777909] [PUBMED:17658279] [PUBMED:10593990] [PUBMED:10958687] [PUBMED:12015972] [PUBMED:15067010] [PUBMED:10028969] [PUBMED:9315665] [PUBMED:15300010] [PUBMED:8643690] [PUBMED:11782429] [PUBMED:12826675] [PUBMED:17575125] [PUBMED:9653148] [PUBMED:10882062] [PUBMED:19726682] [PUBMED:12374742] [PUBMED:11486031] [PUBMED:17296795] [PUBMED:12464310] [PUBMED:12297508] [PUBMED:16492672] [PUBMED:15082708] [PUBMED:16061358] [PUBMED:9244302] [PUBMED:12681948] [PUBMED:11425854] [PUBMED:15272268] [PUBMED:9620803] [PUBMED:16287852] [PUBMED:16847353] [PUBMED:16000382] [PUBMED:11604511] [PUBMED:11432830] [PUBMED:10882063] [PUBMED:14567914] [PUBMED:17107962] [PUBMED:12814948] [PUBMED:11896183] [PUBMED:15585829] [PUBMED:11518718] [PUBMED:15652348] [PUBMED:16144902] [PUBMED:15288257] [PUBMED:17434929] [PUBMED:11006133] [PUBMED:12417415] [PUBMED:18077452] [PUBMED:15288260] [PUBMED:12913000] [PUBMED:17114293] [PUBMED:10837024] [PUBMED:10940313] [PUBMED:18628966] [PUBMED:12794186] [PUBMED:16107360] [PUBMED:12551931] [PUBMED:18417156] [PUBMED:12370315]
Notch-HLH transcription pathway [NCBI:1269651] [REACTOME:R-HSA-350054] [PUBMED:16429119] [PUBMED:12897056] [PUBMED:17157496] [PUBMED:16921404] [PUBMED:12050117] [PUBMED:12374742] [PUBMED:11604511] [PUBMED:11535832] [PUBMED:11112321] [PUBMED:10487760] [PUBMED:10713164] [PUBMED:12370315] [PUBMED:14986688] [PUBMED:15546612] [PUBMED:16530045] [PUBMED:16024779]
Pre-NOTCH Expression and Processing [NCBI:1269531] [REACTOME:R-HSA-1912422] [PUBMED:20805998] [PUBMED:21464368] [PUBMED:11707585] [PUBMED:9187150] [PUBMED:10669757] [PUBMED:9244302] [PUBMED:20080834] [PUBMED:18347015] [PUBMED:19773441] [PUBMED:18243100] [PUBMED:10935637] [PUBMED:11524432] [PUBMED:9207795] [PUBMED:12486116] [PUBMED:20495621] [PUBMED:10935626] [PUBMED:20351093] [PUBMED:19723635] [PUBMED:19701457] [PUBMED:21551231] [PUBMED:21602795] [PUBMED:9653148] [PUBMED:21490058] [PUBMED:19714243] [PUBMED:9727485]
Pre-NOTCH Processing in Golgi [NCBI:1269534] [REACTOME:R-HSA-1912420] [PUBMED:9244302] [PUBMED:1764995] [PUBMED:8681805] [PUBMED:7918097] [PUBMED:10935637] [PUBMED:10366590] [PUBMED:10935626] [PUBMED:20170518] [PUBMED:9727485] [PUBMED:8293978] [PUBMED:19701457] [PUBMED:20197277] [PUBMED:9653148] [PUBMED:10669757] [PUBMED:9187150] [PUBMED:10459009] [PUBMED:1295745] [PUBMED:11135303] [PUBMED:11707585]
Pre-NOTCH Processing in the Endoplasmic Reticulum [NCBI:1269533] [REACTOME:R-HSA-1912399] [PUBMED:21464368] [PUBMED:18347015] [PUBMED:11524432] [PUBMED:18243100] [PUBMED:21490058] [PUBMED:12486116]
Pre-NOTCH Transcription and Translation [NCBI:1269532] [REACTOME:R-HSA-1912408] [PUBMED:20080834] [PUBMED:9693032] [PUBMED:19773441] [PUBMED:20495621] [PUBMED:19714243] [PUBMED:19723635] [PUBMED:17823410] [PUBMED:20351093] [PUBMED:21602795] [PUBMED:17554337] [PUBMED:21551231] [PUBMED:7698746] [PUBMED:17540598] [PUBMED:11187898] [PUBMED:1831692] [PUBMED:20805998] [PUBMED:8878478] [PUBMED:17540599] [PUBMED:1764995] [PUBMED:10545110] [PUBMED:1425352] [PUBMED:16773578]
Signal Transduction [NCBI:1269379] [REACTOME:R-HSA-162582] [PUBMED:19648010] [PUBMED:17604717] [PUBMED:16260143] [PUBMED:11742412] [PUBMED:15863030] [PUBMED:21252999] [PUBMED:19379690] [PUBMED:19536106] [PUBMED:19458711] [PUBMED:19935667] [PUBMED:15450248] [PUBMED:15520807] [PUBMED:16939974] [PUBMED:18483217] [PUBMED:18043707] [PUBMED:19762341] [PUBMED:21781017] [PUBMED:17084981] [PUBMED:19619488] [PUBMED:17496910]
Signaling by NOTCH [NCBI:1269530] [REACTOME:R-HSA-157118]
Signaling by NOTCH2 [NCBI:1269538] [REACTOME:R-HSA-1980145] [PUBMED:21378989] [PUBMED:18724371] [PUBMED:20156974] [PUBMED:11187898] [PUBMED:20816392] [PUBMED:9207788] [PUBMED:19379690] [PUBMED:10958687] [PUBMED:803282] [PUBMED:18469519] [PUBMED:11986231] [PUBMED:11101851] [PUBMED:21378985] [PUBMED:21632553] [PUBMED:10206645] [PUBMED:21681853] [PUBMED:15569487] [PUBMED:9207787] [PUBMED:10551863] [PUBMED:16773578] [PUBMED:11518718] [PUBMED:14567914] [PUBMED:10934472] [PUBMED:11866432] [PUBMED:20816393]
Thyroid hormone signaling pathway [NCBI:946598] [KEGG:hsa04919] [PUBMED:17983645] [PUBMED:20005976] [PUBMED:15345678] [PUBMED:16951130] [PUBMED:18329679] [PUBMED:20051527] [PUBMED:16214361] [PUBMED:17574003] [PUBMED:19716314] [PUBMED:19755667] [PUBMED:20868274] [PUBMED:21835053] [PUBMED:19295177] [PUBMED:16051672] [PUBMED:22484490] [PUBMED:23021374]