AutismKB 2.0

Annotation Detail for NOTCH2


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Basic Information Top
Gene Symbol:NOTCH2 ( AGS2,hN2 )
Gene Full Name: notch 2
Band: 1p12
Quick LinksEntrez ID:4853; OMIM: 600275; Uniprot ID:NOTC2_HUMAN; ENSEMBL ID: ENSG00000134250; HGNC ID: 7882
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
46N-linked (GlcNAc...) (Potential).
155N-linked (GlcNAc...) (Potential).
733N-linked (GlcNAc...) (Potential).
1102N-linked (GlcNAc...) (Potential).
1465N-linked (GlcNAc...) (Potential).
1716Phosphothreonine.
1778Phosphoserine.
1802Phosphothreonine.
1804Phosphoserine.
1808Phosphothreonine.
1841Phosphoserine.
1842Phosphoserine.
1845Phosphoserine.
2070Phosphoserine.
2074Phosphothreonine.
2078Phosphoserine (By similarity).
2081Phosphoserine.
2097Phosphothreonine.
Location(AA) Modifications Resource
46N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
155N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
733N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1102N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1465N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1808Phosphothreonine.Swiss-Prot 53.0
1808PhosphothreoninePhospho.ELM 6.0
1841Phosphoserine.Swiss-Prot 53.0
1842Phosphoserine.Swiss-Prot 53.0
1845Phosphoserine.Swiss-Prot 53.0
2070Phosphoserine.Swiss-Prot 53.0
2070PhosphoserinePhospho.ELM 6.0
2078Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
19S-palmitoylHMM predict
46N-linkedHMM predict
103SulfotyrosineHMM predict
155N-linkedHMM predict
160O-linkedHMM predict
161O-linkedHMM predict
228Phosphoserine(CDC2)HMM predict
348Phosphothreonine(MAPK)HMM predict
482S-palmitoylHMM predict
520S-palmitoylHMM predict
541S-palmitoylHMM predict
599Phosphotyrosine(INSR)HMM predict
733N-linkedHMM predict
937S-palmitoylHMM predict
1046Phosphothreonine(PKC)HMM predict
1070Phosphoserine(CDC2)HMM predict
1085Phosphoserine(IKK)HMM predict
1089S-palmitoylHMM predict
1186Phosphotyrosine(Syk)HMM predict
1333S-palmitoylHMM predict
1344Phosphoserine(IKK)HMM predict
1376Phosphoserine(IKK)HMM predict
1407Phosphoserine(CDK)HMM predict
1419O-linkedHMM predict
1419O-linkedHMM predict
1420O-linkedHMM predict
1420Phosphothreonine(MAPK)HMM predict
1420Phosphothreonine(CDK)HMM predict
1465N-linkedHMM predict
1468Phosphoserine(CDK)HMM predict
1606Phosphothreonine(PKA)HMM predict
1606Phosphothreonine(PKC)HMM predict
1672Phosphothreonine(CDC2)HMM predict
1672Phosphothreonine(MAPK)HMM predict
1672Phosphothreonine(CDK)HMM predict
1722Phosphoserine(PKB)HMM predict
1778Phosphoserine(CK2)HMM predict
1804Phosphoserine(IKK)HMM predict
1808Phosphothreonine(MAPK)HMM predict
1808PhosphothreonineHMM predict
1845Phosphoserine(CK1)HMM predict
1845Phosphoserine(CK2)HMM predict
1845Phosphoserine(ATM)HMM predict
2023Phosphotyrosine(SRC)HMM predict
2066N-linkedHMM predict
2070O-linkedHMM predict
2070Phosphoserine(CDC2)HMM predict
2070Phosphoserine(IKK)HMM predict
2074O-linkedHMM predict
2077O-linkedHMM predict
2097Phosphothreonine(CDC2)HMM predict
2107Phosphoserine(PKA)HMM predict
2107Phosphoserine(PKC)HMM predict
2107Phosphoserine(PKG)HMM predict
2107Phosphoserine(IKK)HMM predict
2107PhosphoserineHMM predict
2110PhosphoserineHMM predict
2134Phosphoserine(PKG)HMM predict
2134Phosphoserine(PKB)HMM predict
2134PhosphoserineHMM predict
2136Phosphoserine(CK1)HMM predict
2145Phosphoserine(CK1)HMM predict
2149Phosphoserine(CDC2)HMM predict
2149Phosphoserine(CDK)HMM predict
2149Phosphoserine(IKK)HMM predict
2153Phosphoserine(CK1)HMM predict
2162O-linkedHMM predict
2165O-linkedHMM predict
2166O-linkedHMM predict
2167O-linkedHMM predict
2167Phosphoserine(CDC2)HMM predict
2260N-linkedHMM predict
2264Phosphotyrosine(EGFR)HMM predict
2264Phosphotyrosine(SRC)HMM predict
2264Phosphotyrosine(Syk)HMM predict
2265N-linkedHMM predict
2296Phosphothreonine(CDK)HMM predict
2326Phosphoserine(IKK)HMM predict
2327O-linkedHMM predict
2385Phosphothreonine(MAPK)HMM predict
2385Phosphothreonine(CDK)HMM predict
2391Phosphoserine(IKK)HMM predict
2401Phosphothreonine(MAPK)HMM predict
2401Phosphothreonine(CDK)HMM predict
2403Phosphoserine(MAPK)HMM predict
2414Phosphotyrosine(Abl)HMM predict
2414Phosphotyrosine(Syk)HMM predict
2416Phosphothreonine(MAPK)HMM predict
2418O-linkedHMM predict
2418Phosphoserine(CDC2)HMM predict
2426Phosphoserine(IKK)HMM predict
2428O-linkedHMM predict
2429Phosphoserine(CDC2)HMM predict
2440O-linkedHMM predict
2440O-linkedHMM predict
2442Phosphoserine(CDC2)HMM predict
2442Phosphoserine(CDK)HMM predict
2444O-linkedHMM predict
2444Phosphothreonine(MAPK)HMM predict
2460O-linkedHMM predict
2465AsparagineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_024408
  • Location:chr1 120255700-120413798
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 120431141 120431423 282 17484
FOXA1 MCF7GSE15244 120426347 120427100 753 12925
H3K4me2 HCT116GSE10453 120414067 120414511 444 491
H3K4me3 colorectalcancer 120414311 120414511 200 613
RARA MCF7GSE15244 120425343 120425812 469 11779
RARA MCF7GSE15244 120426484 120427100 616 12994
RARA MCF7GSE15244 120430470 120430653 183 16763
TAF k562GSE8489 120414170 120414511 341 542
USF2 HepG2E 120414067 120414511 444 491
hScc1 CdLSGSE12603 120413586 120414243 657 116
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 H2O2-HelaGSE14283 120248391 120248418 27 7296
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 120292802 120293169 367 0
CTCF CD4GSE12889 120312235 120312573 338 0
CTCF CD4SISSRdata 120292802 120293169 367 0
CTCF CD4SISSRdata 120312235 120312573 338 0
CTCF JurkatGSE12889 120292730 120293141 411 0
CTCF G2GSE9613 120292531 120293183 652 0
CTCF G2GSE9613 120312088 120312641 553 0
CTCF G2GSE9613 120412596 120414135 1539 0
ER E2-MCF7GSE14664 120262111 120262146 35 0
ER E2-MCF7GSE14664 120286755 120286814 59 0
ER E2-MCF7GSE14664 120380994 120381029 35 0
FOXA1 MCF7GSE15244 120318012 120318672 660 0
FOXA1 MCF7GSE15244 120376414 120376946 532 0
FOXA1 MCF7GSE15244 120405608 120406511 903 0
FoxA1 MCF7MACSdata 120318291 120318420 129 0
H3K4me2 HCT116GSE10453 120412308 120413017 709 0
H3K4me3 colorectalcancer 120411841 120413017 1176 0
H3ac HepG2E 120376414 120376741 327 0
H3ac HepG2E 120411138 120413017 1879 0
LIN9 G0GSE7516 120412596 120414170 1574 0
NFkBII GM10847GSE19485 120413215 120413980 765 0
NFkBII GM12892GSE19485 120413221 120413974 753 0
Nanog ESGSE20650 120280600 120281037 437 0
Nanog ESGSE20650 120345411 120345709 298 0
Oct1 HelaGSE14283 120286762 120286810 48 0
Oct1 HelaGSE14283 120380225 120380259 34 0
Oct1 HelaGSE14283 120404394 120404466 72 0
Oct4 ESGSE20650 120345308 120345693 385 0
PHF8 HeLaGSE20725 120412708 120413963 1255 0
Pol3 GM12878GSE19551 120379688 120380201 513 0
RARA MCF7GSE15244 120292418 120293383 965 0
RARA MCF7GSE15244 120311650 120313568 1918 0
RARA MCF7GSE15244 120317539 120318597 1058 0
RARA MCF7GSE15244 120326208 120326688 480 0
RARA MCF7GSE15244 120334875 120335665 790 0
RARA MCF7GSE15244 120340551 120341813 1262 0
RARA MCF7GSE15244 120350767 120351312 545 0
RARA MCF7GSE15244 120362039 120364159 2120 0
RARA MCF7GSE15244 120368109 120368597 488 0
RARA MCF7GSE15244 120376414 120376946 532 0
RARA MCF7GSE15244 120378713 120379888 1175 0
RARA MCF7GSE15244 120380447 120381734 1287 0
RARA MCF7GSE15244 120387030 120388353 1323 0
RARA MCF7GSE15244 120397759 120399074 1315 0
RARA MCF7GSE15244 120400399 120400679 280 0
RARA MCF7GSE15244 120402779 120404011 1232 0
RARA MCF7GSE15244 120405572 120408659 3087 0
RARA MCF7GSE15244 120410920 120412879 1959 0
RARG MCF7GSE15244 120376414 120376946 532 0
RARG MCF7GSE15244 120405716 120408587 2871 0
Rb GrowingGSE19898 120299347 120299514 167 0
Rb shRbSenescenceGSE19898 120292828 120293079 251 0
SRF HelaGSE8489 120402751 120404049 1298 0
TAF k562GSE8489 120265306 120265941 635 0
TFAP2C MCF7GSE21234 120340887 120342008 1121 0
TFAP2C MCF7GSE21234 120405542 120406634 1092 0
USF2 HepG2E 120376122 120376946 824 0
hScc1 BcellGSE12603 120292670 120293217 547 0
hScc1 BcellGSE12603 120340959 120341193 234 0
hScc1 BcellGSE12603 120402816 120403154 338 0
hScc1 BcellGSE12603 120412630 120414482 1852 0
hScc1 CdLSGSE12603 120292565 120293325 760 0
hScc1 CdLSGSE12603 120402751 120403418 667 0
p130 SenescentGSE19898 120311373 120311573 200 0
p63 keratinocytesGSE17611 120261339 120262177 838 0
p63 keratinocytesGSE17611 120398031 120398738 707 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-let-7b hsa-let-7b 22 18668040
hsa-let-7b* hsa-let-7b 22 18668040
hsa-miR-1 hsa-mir-1-2 18 18668040
hsa-miR-1 hsa-mir-1-1 20 18668040
hsa-miR-155 hsa-mir-155 21 18668040
hsa-miR-155* hsa-mir-155 21 18668040
hsa-miR-16 hsa-mir-16-1 13 18668040
hsa-miR-16 hsa-mir-16-2 3 18668040
hsa-miR-181c hsa-mir-181c 19 20080834
hsa-miR-181c* hsa-mir-181c 19 20080834
hsa-miR-30a hsa-mir-30a 6 18668040
hsa-miR-30a* hsa-mir-30a 6 18668040
hsa-miR-30b hsa-mir-30b 8 18668040
hsa-miR-30b* hsa-mir-30b 8 18668040
hsa-miR-30c hsa-mir-30c-2 6 18668040
hsa-miR-30c hsa-mir-30c-1 1 18668040
hsa-miR-30c-1* hsa-mir-30c-1 1 18668040
hsa-miR-30c-2* hsa-mir-30c-2 6 18668040
hsa-miR-30d hsa-mir-30d 8 18668040
hsa-miR-30d* hsa-mir-30d 8 18668040
hsa-miR-30e hsa-mir-30e 1 18668040
hsa-miR-30e* hsa-mir-30e 1 18668040
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
1073 Unknown pSILAC miR-16 NOTCH2 down 50-25% 18668040
1174 Unknown pSILAC miR-1 NOTCH2 down 50-25% 18668040
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000134250 n_a n_a n_a "epithelium, lymphocyte, muscle cell" "benign tumour, malignant tumour, carcinoma, leukaemia, sarcoma"
ENSG00000134250 n_a n_a n_a "epithelium, lymphocyte, muscle cell" "benign tumour, malignant tumour, carcinoma, leukaemia, sarcoma"
Cis-Nats regulation Top

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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