Gene Gene information from NCBI Gene database.
Entrez ID 4853
Gene name Notch receptor 2
Gene symbol NOTCH2
Synonyms (NCBI Gene)
AGS2HJCYShN2
Chromosome 1
Chromosome location 1p12
Summary This gene encodes a member of the Notch family. Members of this Type 1 transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular
SNPs SNP information provided by dbSNP.
51
SNP ID Visualize variation Clinical significance Consequence
rs111033632 C>T Pathogenic Missense variant, coding sequence variant
rs143134864 T>A,C Conflicting-interpretations-of-pathogenicity Coding sequence variant, genic downstream transcript variant, missense variant
rs151130105 C>A Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs201100122 G>A Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs201233415 T>C Conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
1624
miRTarBase ID miRNA Experiments Reference
MIRT004425 hsa-miR-326 Western blotLuciferase reporter assay 19955368
MIRT004425 hsa-miR-326 Western blotLuciferase reporter assay 19955368
MIRT003209 hsa-miR-181c-5p Luciferase reporter assayqRT-PCRWestern blot 20080834
MIRT001437 hsa-miR-16-5p pSILAC 18668040
MIRT001353 hsa-miR-1-3p pSILAC 18668040
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
109
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000139 Component Golgi membrane IEA
GO:0000139 Component Golgi membrane TAS
GO:0001701 Process In utero embryonic development IEA
GO:0001709 Process Cell fate determination IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600275 7882 ENSG00000134250
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q04721
Protein name Neurogenic locus notch homolog protein 2 (Notch 2) (hN2) [Cleaved into: Notch 2 extracellular truncation (N2ECD); Notch 2 intracellular domain (N2ICD)]
Protein function Functions as a receptor for membrane-bound ligands Jagged-1 (JAG1), Jagged-2 (JAG2) and Delta-1 (DLL1) to regulate cell-fate determination. Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional
PDB 2OO4 , 5MWB
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00008 EGF 68 100 EGF-like domain Domain
PF00008 EGF 109 141 EGF-like domain Domain
PF00008 EGF 148 178 EGF-like domain Domain
PF07645 EGF_CA 182 221 Calcium-binding EGF domain Domain
PF12661 hEGF 230 252 Human growth factor-like EGF Domain
PF00008 EGF 264 294 EGF-like domain Domain
PF07645 EGF_CA 298 338 Calcium-binding EGF domain Domain
PF12661 hEGF 347 367 Human growth factor-like EGF Domain
PF00008 EGF 379 411 EGF-like domain Domain
PF07645 EGF_CA 415 454 Calcium-binding EGF domain Domain
PF00008 EGF 460 490 EGF-like domain Domain
PF00008 EGF 498 528 EGF-like domain Domain
PF00008 EGF 536 566 EGF-like domain Domain
PF12661 hEGF 579 599 Human growth factor-like EGF Domain
PF00008 EGF 611 641 EGF-like domain Domain
PF00008 EGF 649 678 EGF-like domain Domain
PF00008 EGF 686 721 EGF-like domain Domain
PF12661 hEGF 729 749 Human growth factor-like EGF Domain
PF00008 EGF 761 791 EGF-like domain Domain
PF00008 EGF 799 829 EGF-like domain Domain
PF00008 EGF 837 869 EGF-like domain Domain
PF07645 EGF_CA 873 910 Calcium-binding EGF domain Domain
PF00008 EGF 915 945 EGF-like domain Domain
PF00008 EGF 953 983 EGF-like domain Domain
PF00008 EGF 988 1021 EGF-like domain Domain
PF00008 EGF 1029 1059 EGF-like domain Domain
PF00008 EGF 1067 1097 EGF-like domain Domain
PF00008 EGF 1116 1145 EGF-like domain Domain
PF00008 EGF 1153 1183 EGF-like domain Domain
PF00008 EGF 1191 1221 EGF-like domain Domain
PF00008 EGF 1229 1260 EGF-like domain Domain
PF00008 EGF 1308 1341 EGF-like domain Domain
PF00066 Notch 1422 1456 LNR domain Domain
PF00066 Notch 1463 1497 LNR domain Domain
PF00066 Notch 1500 1535 LNR domain Domain
PF06816 NOD 1539 1594 NOTCH protein Family
PF07684 NODP 1618 1674 NOTCH protein Family
PF13857 Ank_5 1862 1914 Repeat
PF12796 Ank_2 1881 1974 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 1954 2042 Ankyrin repeats (3 copies) Repeat
PF11936 DUF3454 2381 2444 Domain of unknown function (DUF3454) Family
Tissue specificity TISSUE SPECIFICITY: Expressed in the brain, heart, kidney, lung, skeletal muscle and liver. Ubiquitously expressed in the embryo. {ECO:0000269|PubMed:21378985}.
Sequence
MPALRPALLWALLALWLCCAAPAHALQCRDGYEPCVNEGMCVTYHNGTGYCKCPEGFLGE
YCQHRDPCEKNRCQNGGTCVAQAMLGKATCRCASGFTGEDCQYSTSHPCFVSRPCLNGGT
CHMLSRDTYECTCQVGFTGKE
CQWTDACLSHPCANGSTCTTVANQFSCKCLTGFTGQKCE
TDVNECDIPGHCQHGGTCLNLPGSYQCQCPQGFTGQYCDSLYVPCAPSPCVNGGTCRQTG
DFTFECNCLPGF
EGSTCERNIDDCPNHRCQNGGVCVDGVNTYNCRCPPQWTGQFCTEDVD
ECLLQPNACQNGGTCANRNGGYGCVCVNGWSGDDCSEN
IDDCAFASCTPGSTCIDRVASF
SCMCPEG
KAGLLCHLDDACISNPCHKGALCDTNPLNGQYICTCPQGYKGADCTEDVDECA
MANSNPCEHAGKCVNTDGAFHCECLKGYAGPRCE
MDINECHSDPCQNDATCLDKIGGFTC
LCMPGFKGVH
CELEINECQSNPCVNNGQCVDKVNRFQCLCPPGFTGPVCQIDIDDCSSTP
CLNGAKCIDHPNGYECQCATGFTGVL
CEENIDNCDPDPCHHGQCQDGIDSYTCICNPGYM
GAICSDQIDECYSSPCLNDGRCIDLVNGYQCNCQPGTSGVNCEINFDDCASNPCIHGICM
DGINRYSCVCSPGFTGQR
CNIDIDECASNPCRKGATCINGVNGFRCICPEGPHHPSCYSQ
V
NECLSNPCIHGNCTGGLSGYKCLCDAGWVGINCEVDKNECLSNPCQNGGTCDNLVNGYR
CTCKKGFKGYN
CQVNIDECASNPCLNQGTCFDDISGYTCHCVLPYTGKNCQTVLAPCSPN
PCENAAVCKESPNFESYTCLCAPGWQGQR
CTIDIDECISKPCMNHGLCHNTQGSYMCECP
PGFSGMDCEE
DIDDCLANPCQNGGSCMDGVNTFSCLCLPGFTGDKCQTDMNECLSEPCKN
GGTCSDYVNSYTCKCQAGFDGVH
CENNINECTESSCFNGGTCVDGINSFSCLCPVGFTGS
F
CLHEINECSSHPCLNEGTCVDGLGTYRCSCPLGYTGKNCQTLVNLCSRSPCKNKGTCVQ
KKAESQCLCPSGWAGAY
CDVPNVSCDIAASRRGVLVEHLCQHSGVCINAGNTHYCQCPLG
YTGSY
CEEQLDECASNPCQHGATCSDFIGGYRCECVPGYQGVNCEYEVDECQNQPCQNGG
TCIDLVNHFKCSCPPGTRGLL
CEENIDDCARGPHCLNGGQCMDRIGGYSCRCLPGFAGER
CEGDINECLSNPCSSEGSLDCIQLTNDYLCVCRSAFTGRHCETFVDVCPQMPCLNGGTCA
VASNMPDGFICRCPPGFSGAR
CQSSCGQVKCRKGEQCVHTASGPRCFCPSPRDCESGCAS
SPCQHGGSCHPQRQPPYYSCQCAPPFSGSRCELYTAPPSTPPATCLSQYCADKARDGVCD
EACNSHACQWDGGDCS
LTMENPWANCSSPLPCWDYINNQCDELCNTVECLFDNFECQGNS
KTCKYDKYCADHFKDNHCDQGCNSEECGWDGLDCA
ADQPENLAEGTLVIVVLMPPEQLLQ
DARSFLRALGTLLHTNLRIKRDSQGELMVYPYYG
EKSAAMKKQRMTRRSLPGEQEQEVAG
SKVFLEIDNRQCVQDSDHCFKNTDAAAALLASHAIQGTLSYPLVSVVSESLTPE
RTQLLY
LLAVAVVIILFIILLGVIMAKRKRKHGSLWLPEGFTLRRDASNHKRREPVGQDAVGLKNL
SVQVSEANLIGTGTSEHWVDDEGPQPKKVKAEDEALLSEEDDPIDRRPWTQQHLEAADIR
RTPSLALTPPQAEQEVDVLDVNVRGPDGCTPLMLASLRGGSSDLSDEDEDAEDSSANIIT
DLVYQGASLQAQTDRTGEMALHLAARYSRADAAKRLLDAGADANAQDNMGRCPLHAAVAA
DAQGVFQILIRNRVTDLDARMNDGTTPLILAARLAVEGMVAELINCQADVNAVDDHGKSA
LHWAAAVNNVEATLLLLKNGANRDMQDNKEETPLFLAAREGSYEAAKILLDHFANRDITD
HM
DRLPRDVARDRMHHDIVRLLDEYNVTPSPPGTVLTSALSPVICGPNRSFLSLKHTPMG
KKSRRPSAKSTMPTSLPNLAKEAKDAKGSRRKKSLSEKVQLSESSVTLSPVDSLESPHTY
VSDTTSSPMITSPGILQASPNPMLATAAPPAPVHAQHALSFSNLHEMQPLAHGASTVLPS
VSQLLSHHHIVSPGSGSAGSLSRLHPVPVPADWMNRMEVNETQYNEMFGMVLAPAEGTHP
GIAPQSRPPEGKHITTPREPLPPIVTFQLIPKGSIAQPAGAPQPQSTCPPAVAGPLPTMY
QIPEMARLPSVAFPTAMMPQQDGQVAQTILPAYHPFPASVGKYPTPPSQHSYASSNAAER
TPSHSGHLQGEHPYLTPSPESPDQWSSSSPHSASDWSDVTTSPT
PGGAGGGQRGPGTHMS
EPPHNNMQVYA
Sequence length 2471
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Endocrine resistance
Notch signaling pathway
Th1 and Th2 cell differentiation
Thyroid hormone signaling pathway
Human papillomavirus infection
Pathways in cancer
MicroRNAs in cancer
Chemical carcinogenesis - receptor activation
Breast cancer
  Pre-NOTCH Transcription and Translation
Pre-NOTCH Processing in Golgi
NOTCH2 intracellular domain regulates transcription
NOTCH2 Activation and Transmission of Signal to the Nucleus
Notch-HLH transcription pathway
Defective LFNG causes SCDO3
NOTCH4 Intracellular Domain Regulates Transcription
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
63
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Alagille syndrome due to a NOTCH2 point mutation Likely pathogenic; Pathogenic rs1650362306, rs2101143618, rs2101144082, rs2526112913, rs2526141876, rs312262798, rs111033632, rs1649088431, rs2526300230, rs2526108695, rs1325403451, rs1557804111, rs1570655570, rs1570658378, rs1570660422
View all (1 more)
RCV001336624
RCV001799543
RCV005017166
RCV002280379
RCV002472109
View all (11 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hajdu-Cheney syndrome Pathogenic; Likely pathogenic rs1649314295, rs2101139955, rs2101098803, rs2101143618, rs2101122493, rs1557812162, rs2101142622, rs2101142928, rs2101114577, rs2101144806, rs2101144082, rs2526105966, rs2526107938, rs2101142159, rs2526149314
View all (32 more)
RCV001329959
RCV001380501
RCV001533199
RCV001799543
RCV002007177
View all (43 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
KA-like vemurafenib-induced squamous lesions Pathogenic rs782598895 RCV001849581
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Keratoacanthoma Pathogenic rs2101145278, rs2101145406 RCV001849879
RCV001849882
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ACROOSTEOLYSIS DOMINANT TYPE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALAGILLE SYNDROME Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALAGILLE SYNDROME 2 HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acquired Kyphoscoliosis Acquired Kyphoscoliosis HPO_DG
★☆☆☆☆
Found in Text Mining only
Acro-Osteolysis Acrosteolysis BEFREE 29037852
★☆☆☆☆
Found in Text Mining only
Acro-Osteolysis Acrosteolysis HPO_DG
★☆☆☆☆
Found in Text Mining only
Acroosteolysis dominant type Acroosteolysis ORPHANET_DG 21378985
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Acroosteolysis dominant type Acroosteolysis Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 24122995
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 22190591, 28061457, 28607605, 28666642
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 22190591, 28607605, 30086535
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Endometrioid Endometrial Cancer BEFREE 28969912
★☆☆☆☆
Found in Text Mining only
Adenoid Cystic Carcinoma Adenocarcinoma BEFREE 28820917
★☆☆☆☆
Found in Text Mining only