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Notch homolog 2 N-terminal-like protein

 NT2NA_HUMAN             Reviewed;         236 AA.
Q7Z3S9; Q5BKT8; Q5VTG9; Q5XG84; Q6P192; Q8NC23; Q8WUQ9; Q96FY1;
20-MAY-2008, integrated into UniProtKB/Swiss-Prot.
01-OCT-2003, sequence version 1.
07-NOV-2018, entry version 153.
RecName: Full=Notch homolog 2 N-terminal-like protein A {ECO:0000303|PubMed:29856954, ECO:0000303|PubMed:29856955};
AltName: Full=Notch homolog 2 N-terminal-like protein {ECO:0000303|PubMed:14673143};
Name=NOTCH2NLA {ECO:0000303|PubMed:29856954,
ECO:0000303|PubMed:29856955, ECO:0000312|HGNC:HGNC:31862};
Synonyms=N2N {ECO:0000303|PubMed:14673143},
NOTCH2NL {ECO:0000312|HGNC:HGNC:31862};
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
TISSUE=Placenta;
PubMed=14702039; DOI=10.1038/ng1285;
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Retina;
PubMed=17974005; DOI=10.1186/1471-2164-8-399;
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H.,
Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K.,
Ottenwaelder B., Poustka A., Wiemann S., Schupp I.;
"The full-ORF clone resource of the German cDNA consortium.";
BMC Genomics 8:399-399(2007).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=16710414; DOI=10.1038/nature04727;
Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D.,
Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A.,
Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F.,
McDonald L., Evans R., Phillips K., Atkinson A., Cooper R., Jones C.,
Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P.,
Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K.,
Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G.,
Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D.,
Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G.,
Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J.,
Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R.,
Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D.,
Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G.,
Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M.,
Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J.,
Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M.,
Loveland J., Lovell J., Lush M.J., Lyne R., Martin S.,
Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S.,
Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C.,
Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z.,
Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E.,
Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A.,
Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R.,
Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V.,
Beck S., Rogers J., Bentley D.R.;
"The DNA sequence and biological annotation of human chromosome 1.";
Nature 441:315-321(2006).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3), AND VARIANT
ILE-158.
TISSUE=Brain, Eye, Liver, Ovary, and Pancreas;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[5]
INTERACTION WITH ELANE, SUBCELLULAR LOCATION, PROTEOLYTIC PROCESSING
BY ELANE, AND TISSUE SPECIFICITY.
PubMed=14673143; DOI=10.1128/MCB.24.1.58-70.2004;
Duan Z., Li F.-Q., Wechsler J., Meade-White K., Williams K.,
Benson K.F., Horwitz M.;
"A novel notch protein, N2N, targeted by neutrophil elastase and
implicated in hereditary neutropenia.";
Mol. Cell. Biol. 24:58-70(2004).
[6]
FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH NOTCH2, TISSUE
SPECIFICITY, AND INVOLVEMENT IN CHROMOSOME 1Q21.1 DELETION/DUPLICATION
SYNDROME.
PubMed=29856954; DOI=10.1016/j.cell.2018.03.051;
Fiddes I.T., Lodewijk G.A., Mooring M., Bosworth C.M., Ewing A.D.,
Mantalas G.L., Novak A.M., van den Bout A., Bishara A.,
Rosenkrantz J.L., Lorig-Roach R., Field A.R., Haeussler M., Russo L.,
Bhaduri A., Nowakowski T.J., Pollen A.A., Dougherty M.L., Nuttle X.,
Addor M.C., Zwolinski S., Katzman S., Kriegstein A., Eichler E.E.,
Salama S.R., Jacobs F.M.J., Haussler D.;
"Human-specific NOTCH2NL genes affect Notch signaling and cortical
neurogenesis.";
Cell 173:1356-1369(2018).
[7]
FUNCTION, AND DEVELOPMENTAL STAGE.
PubMed=29856955; DOI=10.1016/j.cell.2018.03.067;
Suzuki I.K., Gacquer D., Van Heurck R., Kumar D., Wojno M., Bilheu A.,
Herpoel A., Lambert N., Cheron J., Polleux F., Detours V.,
Vanderhaeghen P.;
"Human-specific NOTCH2NL genes expand cortical neurogenesis through
Delta/Notch regulation.";
Cell 173:1370-1384(2018).
[8]
FUNCTION.
PubMed=29561261; DOI=10.7554/eLife.32332;
Florio M., Heide M., Pinson A., Brandl H., Albert M., Winkler S.,
Wimberger P., Huttner W.B., Hiller M.;
"Evolution and cell-type specificity of human-specific genes
preferentially expressed in progenitors of fetal neocortex.";
Elife 7:0-0(2018).
-!- FUNCTION: Human-specific protein that promotes neural progenitor
proliferation and evolutionary expansion of the brain neocortex by
regulating the Notch signaling pathway (PubMed:29856954,
PubMed:29856955, PubMed:29561261). Able to promote neural
progenitor self-renewal, possibly by down-regulating neuronal
differentiation genes, thereby delaying the differentiation of
neuronal progenitors and leading to an overall final increase in
neuronal production (PubMed:29856954). Acts by enhancing the Notch
signaling pathway via two different mechanisms that probably work
in parallel to reach the same effect (PubMed:29856954). Enhances
Notch signaling pathway in a non-cell-autonomous manner via direct
interaction with NOTCH2 (PubMed:29856954). Also promotes Notch
signaling pathway in a cell-autonomous manner through inhibition
of cis DLL1-NOTCH2 interactions, which promotes neuronal
differentiation (By similarity). {ECO:0000250|UniProtKB:P0DPK3,
ECO:0000269|PubMed:29561261, ECO:0000269|PubMed:29856954,
ECO:0000269|PubMed:29856955}.
-!- SUBUNIT: Interacts with ELANE (PubMed:14673143). Interacts with
NOTCH2 (PubMed:29856954). Interacts with DLL1; the interaction is
direct (By similarity). {ECO:0000250|UniProtKB:P0DPK3,
ECO:0000269|PubMed:14673143, ECO:0000269|PubMed:29856954}.
-!- INTERACTION:
Q5BKY6:-; NbExp=3; IntAct=EBI-945833, EBI-10243533;
Q9NWL9:-; NbExp=3; IntAct=EBI-945833, EBI-10315054;
Q96HD9:ACY3; NbExp=3; IntAct=EBI-945833, EBI-3916242;
P82987:ADAMTSL3; NbExp=3; IntAct=EBI-945833, EBI-10221726;
Q6ZMM2-2:ADAMTSL5; NbExp=3; IntAct=EBI-945833, EBI-10254938;
Q3MIX3:ADCK5; NbExp=3; IntAct=EBI-945833, EBI-3923548;
Q08117:AES; NbExp=3; IntAct=EBI-945833, EBI-717810;
P43353:ALDH3B1; NbExp=3; IntAct=EBI-945833, EBI-2558314;
P09923:ALPI; NbExp=3; IntAct=EBI-945833, EBI-1052631;
P29972:AQP1; NbExp=5; IntAct=EBI-945833, EBI-745213;
P55064:AQP5; NbExp=3; IntAct=EBI-945833, EBI-746103;
Q99856:ARID3A; NbExp=3; IntAct=EBI-945833, EBI-5458244;
Q9BZE9:ASPSCR1; NbExp=3; IntAct=EBI-945833, EBI-1993677;
Q7Z3C6:ATG9A; NbExp=3; IntAct=EBI-945833, EBI-727146;
A8KA13:BCL6B; NbExp=3; IntAct=EBI-945833, EBI-10174813;
P62952:BLCAP; NbExp=3; IntAct=EBI-945833, EBI-3895726;
A8K571:BMP7; NbExp=3; IntAct=EBI-945833, EBI-10174327;
Q6NUJ2:C11orf87; NbExp=3; IntAct=EBI-945833, EBI-6660291;
A6NFR6-4:C5orf60; NbExp=3; IntAct=EBI-945833, EBI-10173955;
Q8N4G4:CA6; NbExp=3; IntAct=EBI-945833, EBI-10265475;
Q9Y2V2:CARHSP1; NbExp=5; IntAct=EBI-945833, EBI-718719;
Q8NEC5:CATSPER1; NbExp=5; IntAct=EBI-945833, EBI-744545;
Q8TAB7:CCDC26; NbExp=3; IntAct=EBI-945833, EBI-10271580;
Q8TC90:CCER1; NbExp=5; IntAct=EBI-945833, EBI-746041;
Q04900:CD164; NbExp=5; IntAct=EBI-945833, EBI-2115896;
Q8N619:CDK5R1; NbExp=3; IntAct=EBI-945833, EBI-10266998;
Q8TAM4:CDK5R1; NbExp=3; IntAct=EBI-945833, EBI-10271838;
Q8TCT0:CERK; NbExp=5; IntAct=EBI-945833, EBI-10274247;
Q9NX63:CHCHD3; NbExp=5; IntAct=EBI-945833, EBI-743375;
Q8NE62:CHDH; NbExp=3; IntAct=EBI-945833, EBI-7127986;
Q9UKJ5:CHIC2; NbExp=5; IntAct=EBI-945833, EBI-741528;
Q9H2X0:CHRD; NbExp=5; IntAct=EBI-945833, EBI-947551;
P07510:CHRNG; NbExp=3; IntAct=EBI-945833, EBI-9008836;
P07510-2:CHRNG; NbExp=5; IntAct=EBI-945833, EBI-11979451;
P57739:CLDN2; NbExp=3; IntAct=EBI-945833, EBI-751440;
A5D8T8:CLEC18A; NbExp=3; IntAct=EBI-945833, EBI-10173491;
P27658:COL8A1; NbExp=5; IntAct=EBI-945833, EBI-747133;
Q9BSW2:CRACR2A; NbExp=3; IntAct=EBI-945833, EBI-739773;
Q9UGL9:CRCT1; NbExp=3; IntAct=EBI-945833, EBI-713677;
Q02930-3:CREB5; NbExp=5; IntAct=EBI-945833, EBI-10192698;
P09603:CSF1; NbExp=3; IntAct=EBI-945833, EBI-2872294;
P09228:CST2; NbExp=5; IntAct=EBI-945833, EBI-8832659;
Q9H4G1:CST9L; NbExp=5; IntAct=EBI-945833, EBI-3923092;
P08311:CTSG; NbExp=3; IntAct=EBI-945833, EBI-5462635;
Q9UBR2:CTSZ; NbExp=5; IntAct=EBI-945833, EBI-8636823;
Q6I9S7:CXCL5; NbExp=3; IntAct=EBI-945833, EBI-10249885;
Q96LJ7:DHRS1; NbExp=5; IntAct=EBI-945833, EBI-746300;
Q9NQL9:DMRT3; NbExp=5; IntAct=EBI-945833, EBI-9679045;
O96015:DNAL4; NbExp=3; IntAct=EBI-945833, EBI-742362;
Q92608:DOCK2; NbExp=5; IntAct=EBI-945833, EBI-448771;
P52797:EFNA3; NbExp=3; IntAct=EBI-945833, EBI-722730;
O60573:EIF4E2; NbExp=3; IntAct=EBI-945833, EBI-398610;
O15197-2:EPHB6; NbExp=3; IntAct=EBI-945833, EBI-10182490;
O00519:FAAH; NbExp=3; IntAct=EBI-945833, EBI-1389829;
Q9H5Z6:FAM124B; NbExp=3; IntAct=EBI-945833, EBI-741626;
Q8NEG0:FAM71C; NbExp=5; IntAct=EBI-945833, EBI-752049;
Q5TZK3:FAM74A6; NbExp=5; IntAct=EBI-945833, EBI-10247271;
O95363:FARS2; NbExp=3; IntAct=EBI-945833, EBI-2513774;
P48023:FASLG; NbExp=3; IntAct=EBI-945833, EBI-495538;
Q96D16:FBXL18; NbExp=3; IntAct=EBI-945833, EBI-744419;
Q969U6:FBXW5; NbExp=5; IntAct=EBI-945833, EBI-741068;
Q99853:FOXB1; NbExp=3; IntAct=EBI-945833, EBI-3916225;
O43559:FRS3; NbExp=5; IntAct=EBI-945833, EBI-725515;
O14764:GABRD; NbExp=3; IntAct=EBI-945833, EBI-744352;
P23769:GATA2; NbExp=3; IntAct=EBI-945833, EBI-2806671;
P55040:GEM; NbExp=3; IntAct=EBI-945833, EBI-744104;
Q9NXC2:GFOD1; NbExp=3; IntAct=EBI-945833, EBI-8799578;
P09681:GIP; NbExp=3; IntAct=EBI-945833, EBI-8588553;
P43220:GLP1R; NbExp=5; IntAct=EBI-945833, EBI-7466542;
O76003:GLRX3; NbExp=3; IntAct=EBI-945833, EBI-374781;
Q6IB77:GLYAT; NbExp=3; IntAct=EBI-945833, EBI-715463;
P04899:GNAI2; NbExp=3; IntAct=EBI-945833, EBI-353997;
Q9Y223:GNE; NbExp=3; IntAct=EBI-945833, EBI-4291090;
P09211:GSTP1; NbExp=5; IntAct=EBI-945833, EBI-353467;
Q9Y5Q8:GTF3C5; NbExp=3; IntAct=EBI-945833, EBI-1045409;
P02008:HBZ; NbExp=5; IntAct=EBI-945833, EBI-719843;
P08631:HCK; NbExp=3; IntAct=EBI-945833, EBI-346340;
V9HW60:HEL-S-182mP; NbExp=3; IntAct=EBI-945833, EBI-10180762;
V9HWJ5:HEL-S-90n; NbExp=3; IntAct=EBI-945833, EBI-10330335;
A4FTV9:HIST1H2AK; NbExp=3; IntAct=EBI-945833, EBI-10173457;
P49639:HOXA1; NbExp=5; IntAct=EBI-945833, EBI-740785;
P37235:HPCAL1; NbExp=5; IntAct=EBI-945833, EBI-749311;
O75506:HSBP1; NbExp=3; IntAct=EBI-945833, EBI-748664;
Q9H2F3:HSD3B7; NbExp=3; IntAct=EBI-945833, EBI-3918847;
Q96MM6:HSPA12B; NbExp=5; IntAct=EBI-945833, EBI-10291310;
Q9NZL4:HSPBP1; NbExp=3; IntAct=EBI-945833, EBI-356763;
P10809:HSPD1; NbExp=3; IntAct=EBI-945833, EBI-352528;
Q14773-3:ICAM4; NbExp=5; IntAct=EBI-945833, EBI-10233928;
P13284:IFI30; NbExp=3; IntAct=EBI-945833, EBI-2868897;
P31785:IL2RG; NbExp=3; IntAct=EBI-945833, EBI-80475;
Q92835:INPP5D; NbExp=3; IntAct=EBI-945833, EBI-1380477;
P05107:ITGB2; NbExp=8; IntAct=EBI-945833, EBI-300173;
L7RT22:ITGB5; NbExp=3; IntAct=EBI-945833, EBI-10178729;
Q15040:JOSD1; NbExp=5; IntAct=EBI-945833, EBI-2510602;
Q96SI1:KCTD15; NbExp=3; IntAct=EBI-945833, EBI-715783;
Q2WGJ6:KLHL38; NbExp=5; IntAct=EBI-945833, EBI-6426443;
O60259:KLK8; NbExp=5; IntAct=EBI-945833, EBI-3915857;
P35900:KRT20; NbExp=3; IntAct=EBI-945833, EBI-742094;
P78385:KRT83; NbExp=5; IntAct=EBI-945833, EBI-10221390;
P60412:KRTAP10-11; NbExp=3; IntAct=EBI-945833, EBI-10217483;
P60370:KRTAP10-5; NbExp=5; IntAct=EBI-945833, EBI-10172150;
P60409:KRTAP10-7; NbExp=3; IntAct=EBI-945833, EBI-10172290;
P60410:KRTAP10-8; NbExp=5; IntAct=EBI-945833, EBI-10171774;
P60411:KRTAP10-9; NbExp=5; IntAct=EBI-945833, EBI-10172052;
P59991:KRTAP12-2; NbExp=5; IntAct=EBI-945833, EBI-10176379;
P60329:KRTAP12-4; NbExp=5; IntAct=EBI-945833, EBI-10176396;
Q3SY46:KRTAP13-3; NbExp=5; IntAct=EBI-945833, EBI-10241252;
Q6PEX3:KRTAP26-1; NbExp=5; IntAct=EBI-945833, EBI-3957672;
Q9BYR8:KRTAP3-1; NbExp=3; IntAct=EBI-945833, EBI-9996449;
Q9BYQ6:KRTAP4-11; NbExp=5; IntAct=EBI-945833, EBI-10302392;
Q9BQ66:KRTAP4-12; NbExp=3; IntAct=EBI-945833, EBI-739863;
Q9BYR5:KRTAP4-2; NbExp=5; IntAct=EBI-945833, EBI-10172511;
Q9BYR0:KRTAP4-7; NbExp=3; IntAct=EBI-945833, EBI-10302547;
Q6L8G9:KRTAP5-6; NbExp=5; IntAct=EBI-945833, EBI-10250562;
P26371:KRTAP5-9; NbExp=5; IntAct=EBI-945833, EBI-3958099;
Q9BYQ4:KRTAP9-2; NbExp=5; IntAct=EBI-945833, EBI-1044640;
Q9BYQ2:KRTAP9-4; NbExp=3; IntAct=EBI-945833, EBI-10185730;
Q5T7P3:LCE1B; NbExp=5; IntAct=EBI-945833, EBI-10245913;
Q5TA82:LCE2D; NbExp=5; IntAct=EBI-945833, EBI-10246750;
Q5T5A8:LCE3C; NbExp=5; IntAct=EBI-945833, EBI-10245291;
Q5T5B0:LCE3E; NbExp=5; IntAct=EBI-945833, EBI-10245456;
Q7Z4I7-5:LIMS2; NbExp=3; IntAct=EBI-945833, EBI-10257651;
O14910:LIN7A; NbExp=3; IntAct=EBI-945833, EBI-2513988;
Q96FQ7:LINC00526; NbExp=5; IntAct=EBI-945833, EBI-10286106;
P25791:LMO2; NbExp=3; IntAct=EBI-945833, EBI-739696;
Q8TBB1:LNX1; NbExp=5; IntAct=EBI-945833, EBI-739832;
Q17RD9:LOC200261; NbExp=3; IntAct=EBI-945833, EBI-10239007;
Q496Y0:LONRF3; NbExp=3; IntAct=EBI-945833, EBI-2690768;
O75427:LRCH4; NbExp=3; IntAct=EBI-945833, EBI-718707;
Q6PJG9:LRFN4; NbExp=5; IntAct=EBI-945833, EBI-7910762;
O60336:MAPKBP1; NbExp=5; IntAct=EBI-945833, EBI-947402;
Q6IPE9:MARK4; NbExp=3; IntAct=EBI-945833, EBI-10250211;
O15232:MATN3; NbExp=3; IntAct=EBI-945833, EBI-6262458;
P08582-2:MELTF; NbExp=5; IntAct=EBI-945833, EBI-10195914;
Q4ZG74:MGC13033; NbExp=3; IntAct=EBI-945833, EBI-10241963;
Q9NV56:MRGBP; NbExp=5; IntAct=EBI-945833, EBI-399076;
Q9NQ50:MRPL40; NbExp=5; IntAct=EBI-945833, EBI-1053902;
Q13330:MTA1; NbExp=5; IntAct=EBI-945833, EBI-714236;
Q9BW11:MXD3; NbExp=5; IntAct=EBI-945833, EBI-741574;
P50539-3:MXI1; NbExp=5; IntAct=EBI-945833, EBI-10211940;
Q15742:NAB2; NbExp=3; IntAct=EBI-945833, EBI-8641936;
Q8IW45:NAXD; NbExp=3; IntAct=EBI-945833, EBI-8650724;
Q92692:NECTIN2; NbExp=3; IntAct=EBI-945833, EBI-718419;
Q9NQS3:NECTIN3; NbExp=3; IntAct=EBI-945833, EBI-2826725;
Q9Y3R4:NEU2; NbExp=6; IntAct=EBI-945833, EBI-10327976;
P48645:NMU; NbExp=5; IntAct=EBI-945833, EBI-10210351;
P48146:NPBWR2; NbExp=3; IntAct=EBI-945833, EBI-10210114;
Q9NQX5:NPDC1; NbExp=5; IntAct=EBI-945833, EBI-748927;
P16860:NPPB; NbExp=3; IntAct=EBI-945833, EBI-747044;
Q6NSM0:NR1D2; NbExp=5; IntAct=EBI-945833, EBI-10250949;
Q9Y5Y2:NUBP2; NbExp=3; IntAct=EBI-945833, EBI-1048886;
Q99571:P2RX4; NbExp=5; IntAct=EBI-945833, EBI-2828248;
Q9H1Q7:PCED1A; NbExp=3; IntAct=EBI-945833, EBI-748452;
Q96HM7:PCED1B; NbExp=3; IntAct=EBI-945833, EBI-1222622;
Q92824:PCSK5; NbExp=3; IntAct=EBI-945833, EBI-751290;
O76083:PDE9A; NbExp=3; IntAct=EBI-945833, EBI-742764;
Q7Z2X4:PID1; NbExp=3; IntAct=EBI-945833, EBI-10256685;
Q96S52:PIGS; NbExp=5; IntAct=EBI-945833, EBI-2908273;
O43688:PLPP2; NbExp=3; IntAct=EBI-945833, EBI-722017;
Q9NRQ2:PLSCR4; NbExp=3; IntAct=EBI-945833, EBI-769257;
Q8NAT1:POMGNT2; NbExp=3; IntAct=EBI-945833, EBI-10269044;
P54646:PRKAA2; NbExp=3; IntAct=EBI-945833, EBI-1383852;
Q8WWY3:PRPF31; NbExp=6; IntAct=EBI-945833, EBI-1567797;
P11908:PRPS2; NbExp=3; IntAct=EBI-945833, EBI-4290895;
P25786:PSMA1; NbExp=5; IntAct=EBI-945833, EBI-359352;
Q969U7:PSMG2; NbExp=3; IntAct=EBI-945833, EBI-723276;
P43115-12:PTGER3; NbExp=3; IntAct=EBI-945833, EBI-10234038;
Q8WUK0:PTPMT1; NbExp=5; IntAct=EBI-945833, EBI-7199479;
Q9H3S7:PTPN23; NbExp=3; IntAct=EBI-945833, EBI-724478;
P15151:PVR; NbExp=5; IntAct=EBI-945833, EBI-3919694;
Q9Y2K5-2:R3HDM2; NbExp=3; IntAct=EBI-945833, EBI-10326419;
Q8TBN0:RAB3IL1; NbExp=5; IntAct=EBI-945833, EBI-743796;
O60896:RAMP3; NbExp=5; IntAct=EBI-945833, EBI-720447;
Q96PM5:RCHY1; NbExp=3; IntAct=EBI-945833, EBI-947779;
Q6P9E2:RECK; NbExp=5; IntAct=EBI-945833, EBI-10253121;
P07949:RET; NbExp=3; IntAct=EBI-945833, EBI-2480756;
P07949-2:RET; NbExp=3; IntAct=EBI-945833, EBI-4423689;
O15211:RGL2; NbExp=3; IntAct=EBI-945833, EBI-712355;
P62857:RPS28; NbExp=3; IntAct=EBI-945833, EBI-353027;
Q86UN2:RTN4RL1; NbExp=5; IntAct=EBI-945833, EBI-10258951;
Q9NUL5:RYDEN; NbExp=3; IntAct=EBI-945833, EBI-10313866;
Q9BWG6:SCNM1; NbExp=5; IntAct=EBI-945833, EBI-748391;
O00560:SDCBP; NbExp=3; IntAct=EBI-945833, EBI-727004;
Q8WWX9:SELENOM; NbExp=3; IntAct=EBI-945833, EBI-10277687;
Q9C0C4:SEMA4C; NbExp=5; IntAct=EBI-945833, EBI-10303490;
A1A5C7:SLC22A23; NbExp=3; IntAct=EBI-945833, EBI-10171756;
Q9UHI7:SLC23A1; NbExp=3; IntAct=EBI-945833, EBI-1759386;
Q9UBX3:SLC25A10; NbExp=3; IntAct=EBI-945833, EBI-750394;
P12236:SLC25A6; NbExp=3; IntAct=EBI-945833, EBI-356254;
Q9NP91:SLC6A20; NbExp=5; IntAct=EBI-945833, EBI-10311198;
Q969G3:SMARCE1; NbExp=3; IntAct=EBI-945833, EBI-455078;
P49901:SMCP; NbExp=5; IntAct=EBI-945833, EBI-750494;
Q9H4F8:SMOC1; NbExp=3; IntAct=EBI-945833, EBI-2801103;
O95863:SNAI1; NbExp=3; IntAct=EBI-945833, EBI-1045459;
Q6RVD6:SPATA8; NbExp=5; IntAct=EBI-945833, EBI-8635958;
Q9UQ90:SPG7; NbExp=5; IntAct=EBI-945833, EBI-717201;
P20155:SPINK2; NbExp=3; IntAct=EBI-945833, EBI-10200479;
O43609:SPRY1; NbExp=5; IntAct=EBI-945833, EBI-3866665;
O75716:STK16; NbExp=5; IntAct=EBI-945833, EBI-749295;
Q8IV04:TBC1D10C; NbExp=3; IntAct=EBI-945833, EBI-10261452;
Q7L2K0:TEDC2; NbExp=3; IntAct=EBI-945833, EBI-8465456;
Q9BT49:THAP7; NbExp=5; IntAct=EBI-945833, EBI-741350;
Q5TEJ8:THEMIS2; NbExp=3; IntAct=EBI-945833, EBI-2806032;
Q9GZM7-3:TINAGL1; NbExp=3; IntAct=EBI-945833, EBI-10303636;
Q86TG1:TMEM150A; NbExp=5; IntAct=EBI-945833, EBI-2799342;
Q9H6L2:TMEM231; NbExp=3; IntAct=EBI-945833, EBI-10307654;
Q96HV5:TMEM41A; NbExp=3; IntAct=EBI-945833, EBI-10288884;
Q96KP6:TNIP3; NbExp=5; IntAct=EBI-945833, EBI-2509913;
Q07912:TNK2; NbExp=3; IntAct=EBI-945833, EBI-603457;
Q4VB56:TNP2; NbExp=3; IntAct=EBI-945833, EBI-10241829;
P14373:TRIM27; NbExp=3; IntAct=EBI-945833, EBI-719493;
Q8IWZ5:TRIM42; NbExp=8; IntAct=EBI-945833, EBI-5235829;
O14817:TSPAN4; NbExp=5; IntAct=EBI-945833, EBI-8652667;
Q86UY0:TXNDC5; NbExp=5; IntAct=EBI-945833, EBI-2825190;
Q9BRU9:UTP23; NbExp=5; IntAct=EBI-945833, EBI-5457544;
Q9UBK9:UXT; NbExp=5; IntAct=EBI-945833, EBI-357355;
Q64LD2:WDR25; NbExp=3; IntAct=EBI-945833, EBI-744560;
Q06250:WT1-AS; NbExp=5; IntAct=EBI-945833, EBI-10223946;
Q9UBD3:XCL2; NbExp=3; IntAct=EBI-945833, EBI-10319095;
Q9GZM5:YIPF3; NbExp=3; IntAct=EBI-945833, EBI-743787;
Q9Y260:ZFAB; NbExp=3; IntAct=EBI-945833, EBI-750052;
Q9BQ24:ZFYVE21; NbExp=3; IntAct=EBI-945833, EBI-2849569;
Q15973:ZNF124; NbExp=4; IntAct=EBI-945833, EBI-2555767;
P17041:ZNF32; NbExp=3; IntAct=EBI-945833, EBI-1965483;
Q8TAU3:ZNF417; NbExp=5; IntAct=EBI-945833, EBI-740727;
Q8NDP4:ZNF439; NbExp=3; IntAct=EBI-945833, EBI-747580;
Q8IYI8:ZNF440; NbExp=5; IntAct=EBI-945833, EBI-726439;
Q9NWS9-2:ZNF446; NbExp=5; IntAct=EBI-945833, EBI-740232;
Q9P0T4:ZNF581; NbExp=5; IntAct=EBI-945833, EBI-745520;
Q96SQ5:ZNF587; NbExp=5; IntAct=EBI-945833, EBI-6427977;
A0A0S2Z5X4:ZNF688; NbExp=3; IntAct=EBI-945833, EBI-16429014;
-!- SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:14673143,
ECO:0000269|PubMed:29856954}. Cytoplasm
{ECO:0000269|PubMed:14673143}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=3;
Name=1;
IsoId=Q7Z3S9-1; Sequence=Displayed;
Name=2;
IsoId=Q7Z3S9-2; Sequence=VSP_033896;
Note=No experimental confirmation available.;
Name=3;
IsoId=Q7Z3S9-3; Sequence=VSP_033895;
-!- TISSUE SPECIFICITY: Widely expressed with higher levels in
leukocytes and lymph nodes (PubMed:14673143). Expressed in radial
glia neural stem cells during cortical development
(PubMed:29856954). {ECO:0000269|PubMed:14673143,
ECO:0000269|PubMed:29856954}.
-!- DEVELOPMENTAL STAGE: Expressed at low levels at 7-9 gestational
weeks and then increases at later stages, including in the non-
cortical plate region at gestational week 21, containing the
outer-subventricular zone (PubMed:29856955). Expressed at lower
level than NOTCH2NLB (PubMed:29856955).
{ECO:0000269|PubMed:29856955}.
-!- PTM: Cleaved by ELANE. {ECO:0000269|PubMed:14673143}.
-!- DISEASE: Note=Defects in NOTCH2NLA may be a cause of chromosome
1q21.1 deletion/duplication syndrome (PubMed:29856954). Deletions
of NOTCH2NL (NOTCH2NLA, NOTCH2NLB and/or NOTCH2NLC) are present in
patients affected by microcephaly, whereas macrocephaly is
observed in patients with NOTCH2NL duplications (PubMed:29856954).
{ECO:0000269|PubMed:29856954}.
-!- SIMILARITY: Belongs to the NOTCH family. {ECO:0000305}.
-!- SEQUENCE CAUTION:
Sequence=AAH84572.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Sequence=BAC11381.1; Type=Erroneous initiation; Evidence={ECO:0000305};
-----------------------------------------------------------------------
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EMBL; AK075065; BAC11381.1; ALT_INIT; mRNA.
EMBL; BX537434; CAD97676.1; -; mRNA.
EMBL; AL592307; CAH73993.1; -; Genomic_DNA.
EMBL; AL592307; CAH73994.1; -; Genomic_DNA.
EMBL; BC010154; AAH10154.3; -; mRNA.
EMBL; BC019835; AAH19835.1; -; mRNA.
EMBL; BC065219; AAH65219.2; -; mRNA.
EMBL; BC084572; AAH84572.1; ALT_INIT; mRNA.
EMBL; BC090943; AAH90943.1; -; mRNA.
CCDS; CCDS72880.1; -. [Q7Z3S9-1]
RefSeq; NP_982283.2; NM_203458.4. [Q7Z3S9-1]
RefSeq; XP_006711766.1; XM_006711703.3.
RefSeq; XP_006726418.1; XM_006726355.3.
RefSeq; XP_016855384.1; XM_016999895.1.
RefSeq; XP_016855385.1; XM_016999896.1.
RefSeq; XP_016855386.1; XM_016999897.1.
RefSeq; XP_016855387.1; XM_016999898.1.
RefSeq; XP_016858537.1; XM_017003048.1. [Q7Z3S9-1]
RefSeq; XP_016858538.1; XM_017003049.1. [Q7Z3S9-1]
RefSeq; XP_016858539.1; XM_017003050.1. [Q7Z3S9-1]
RefSeq; XP_016858540.1; XM_017003051.1.
UniGene; Hs.655156; -.
UniGene; Hs.683989; -.
UniGene; Hs.728902; -.
ProteinModelPortal; Q7Z3S9; -.
SMR; Q7Z3S9; -.
BioGrid; 132802; 246.
DIP; DIP-47315N; -.
IntAct; Q7Z3S9; 352.
STRING; 9606.ENSP00000354929; -.
DMDM; 74750065; -.
EPD; Q7Z3S9; -.
MaxQB; Q7Z3S9; -.
PaxDb; Q7Z3S9; -.
PeptideAtlas; Q7Z3S9; -.
PRIDE; Q7Z3S9; -.
ProteomicsDB; 69079; -.
ProteomicsDB; 69080; -. [Q7Z3S9-2]
ProteomicsDB; 69081; -. [Q7Z3S9-3]
TopDownProteomics; Q7Z3S9-3; -. [Q7Z3S9-3]
DNASU; 388677; -.
Ensembl; ENST00000362074; ENSP00000354929; ENSG00000264343. [Q7Z3S9-1]
Ensembl; ENST00000578207; ENSP00000464060; ENSG00000264343. [Q7Z3S9-1]
Ensembl; ENST00000579793; ENSP00000476330; ENSG00000264343. [Q7Z3S9-2]
GeneID; 100996717; -.
GeneID; 100996763; -.
GeneID; 388677; -.
KEGG; hsa:100996717; -.
KEGG; hsa:100996763; -.
KEGG; hsa:388677; -.
UCSC; uc031utx.2; human. [Q7Z3S9-1]
CTD; 100996717; -.
CTD; 100996763; -.
CTD; 388677; -.
DisGeNET; 100996717; -.
DisGeNET; 100996763; -.
DisGeNET; 388677; -.
EuPathDB; HostDB:ENSG00000264343.5; -.
GeneCards; NOTCH2NL; -.
HGNC; HGNC:31862; NOTCH2NLA.
HPA; CAB004669; -.
MIM; 618023; gene.
neXtProt; NX_Q7Z3S9; -.
OpenTargets; ENSG00000264343; -.
OpenTargets; ENSG00000271383; -.
PharmGKB; PA134983899; -.
eggNOG; KOG1217; Eukaryota.
eggNOG; ENOG410XP6K; LUCA.
GeneTree; ENSGT00420000029746; -.
GeneTree; ENSGT00930000150895; -.
HOVERGEN; HBG104750; -.
InParanoid; Q7Z3S9; -.
OMA; GINAYYC; -.
OrthoDB; EOG091G0F6Z; -.
PhylomeDB; Q7Z3S9; -.
ChiTaRS; NOTCH2NL; human.
PMAP-CutDB; Q7Z3S9; -.
PRO; PR:Q7Z3S9; -.
Proteomes; UP000005640; Chromosome 1.
Bgee; ENSG00000264343; Expressed in 91 organ(s), highest expression level in testis.
CleanEx; HS_NOTCH2NL; -.
Genevisible; Q7Z3S9; HS.
GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
GO; GO:0005509; F:calcium ion binding; IEA:InterPro.
GO; GO:0005112; F:Notch binding; IPI:UniProtKB.
GO; GO:0030154; P:cell differentiation; IEA:UniProtKB-KW.
GO; GO:0021987; P:cerebral cortex development; IDA:UniProtKB.
GO; GO:0007219; P:Notch signaling pathway; IEA:UniProtKB-KW.
GO; GO:0045747; P:positive regulation of Notch signaling pathway; IDA:UniProtKB.
InterPro; IPR001881; EGF-like_Ca-bd_dom.
InterPro; IPR013032; EGF-like_CS.
InterPro; IPR000742; EGF-like_dom.
InterPro; IPR000152; EGF-type_Asp/Asn_hydroxyl_site.
InterPro; IPR018097; EGF_Ca-bd_CS.
Pfam; PF00008; EGF; 3.
Pfam; PF07645; EGF_CA; 1.
SMART; SM00181; EGF; 5.
SMART; SM00179; EGF_CA; 4.
PROSITE; PS00010; ASX_HYDROXYL; 1.
PROSITE; PS00022; EGF_1; 5.
PROSITE; PS01186; EGF_2; 5.
PROSITE; PS50026; EGF_3; 6.
PROSITE; PS01187; EGF_CA; 1.
1: Evidence at protein level;
Alternative splicing; Calcium; Complete proteome; Cytoplasm;
Developmental protein; Differentiation; Disulfide bond;
EGF-like domain; Glycoprotein; Notch signaling pathway; Polymorphism;
Reference proteome; Repeat; Secreted.
CHAIN 1 236 Notch homolog 2 N-terminal-like protein
A.
/FTId=PRO_0000337103.
DOMAIN 1 24 EGF-like 1. {ECO:0000255|PROSITE-
ProRule:PRU00076}.
DOMAIN 25 63 EGF-like 2. {ECO:0000255|PROSITE-
ProRule:PRU00076}.
DOMAIN 66 104 EGF-like 3. {ECO:0000255|PROSITE-
ProRule:PRU00076}.
DOMAIN 105 141 EGF-like 4. {ECO:0000255|PROSITE-
ProRule:PRU00076}.
DOMAIN 143 180 EGF-like 5; calcium-binding.
{ECO:0000255|PROSITE-ProRule:PRU00076}.
DOMAIN 182 219 EGF-like 6. {ECO:0000255|PROSITE-
ProRule:PRU00076}.
CARBOHYD 7 7 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
DISULFID 14 23 {ECO:0000255|PROSITE-ProRule:PRU00076}.
DISULFID 29 40 {ECO:0000255|PROSITE-ProRule:PRU00076}.
DISULFID 34 51 {ECO:0000255|PROSITE-ProRule:PRU00076}.
DISULFID 53 62 {ECO:0000255|PROSITE-ProRule:PRU00076}.
DISULFID 70 82 {ECO:0000255|PROSITE-ProRule:PRU00076}.
DISULFID 76 92 {ECO:0000255|PROSITE-ProRule:PRU00076}.
DISULFID 94 103 {ECO:0000255|PROSITE-ProRule:PRU00076}.
DISULFID 109 120 {ECO:0000255|PROSITE-ProRule:PRU00076}.
DISULFID 114 129 {ECO:0000255|PROSITE-ProRule:PRU00076}.
DISULFID 131 140 {ECO:0000255|PROSITE-ProRule:PRU00076}.
DISULFID 147 159 {ECO:0000255|PROSITE-ProRule:PRU00076}.
DISULFID 153 168 {ECO:0000255|PROSITE-ProRule:PRU00076}.
DISULFID 170 179 {ECO:0000255|PROSITE-ProRule:PRU00076}.
DISULFID 186 197 {ECO:0000255|PROSITE-ProRule:PRU00076}.
DISULFID 191 207 {ECO:0000255|PROSITE-ProRule:PRU00076}.
VAR_SEQ 1 1 M -> MCRDGYEPCVNEGM (in isoform 3).
{ECO:0000303|PubMed:15489334}.
/FTId=VSP_033895.
VAR_SEQ 212 236 ETVRRGTELWERDREVWNGKEHDEN -> ATWPIFPKLLSL
QEKESYC (in isoform 2).
{ECO:0000303|PubMed:14702039}.
/FTId=VSP_033896.
VARIANT 67 67 S -> P (in dbSNP:rs10910779).
/FTId=VAR_043601.
VARIANT 158 158 T -> I (in dbSNP:rs8002).
{ECO:0000269|PubMed:15489334}.
/FTId=VAR_043602.
VARIANT 196 196 T -> S (in dbSNP:rs4649852).
/FTId=VAR_043603.
VARIANT 226 226 E -> Q (in dbSNP:rs1053710).
/FTId=VAR_043604.
CONFLICT 19 19 L -> S (in Ref. 1; BAC11381).
{ECO:0000305}.
SEQUENCE 236 AA; 25835 MW; 2DF01880A22814C9 CRC64;
MCVTYHNGTG YCKCPEGFLG EYCQHRDPCE KNRCQNGGTC VAQAMLGKAT CRCASGFTGE
DCQYSTSHPC FVSRPCLNGG TCHMLSRDTY ECTCQVGFTG KECQWTDACL SHPCANGSTC
TTVANQFSCK CLTGFTGQKC ETDVNECDIP GHCQHGGTCL NLPGSYQCQC LQGFTGQYCD
SLYVPCAPSP CVNGGTCRQT GDFTFECNCL PETVRRGTEL WERDREVWNG KEHDEN


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EH2222 Neurogenic locus notch homolog protein 4 Elisa Kit 96T
EH2221 Neurogenic locus notch homolog protein 2 Elisa Kit 96T
CSB-EL020732RA Rat Protein strawberry notch homolog 1(SBNO1) ELISA kit 96T
EH2285 Neurogenic locus notch homolog protein 3 Elisa Kit 96T


 

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