NOTCH2 Gene
protein-coding GIFtS : 69
GCID: GC01 M120454
notch 2 (Previous names: Notch (Drosophila) homolog 2, Notch homolog 2 (Drosophila)... )
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Aliasesfor NOTCH2 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases Notch 2 1 2 3 Notch Homolog 2 (Drosophila)1 HN21 HJCYS2 AGS22 5 Neurogenic Locus Notch Homolog Protein 22 Notch (Drosophila) Homolog 21 Notch Homolog 22
Export aliases for NOTCH2 gene to outside databases Previous GC identifers: GC01M120900 GC01M119292 GC01M119601 GC01M119800 GC01M120100 GC01M120256 GC01M118312
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Summariesfor NOTCH2 gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section Entrez Gene summary for NOTCH2 : 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 domain consisting of multiple, different domain types. Notch family members play a role in a variety of developmental processes by controlling cell fate decisions. The Notch signaling network is an evolutionarily conserved intercellular signaling pathway which regulates interactions between physically adjacent cells. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signaling pathway that plays a key role in development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remain to be determined. This protein is cleaved in the trans-Golgi network, and presented on the cell surface as a heterodimer. This protein functions as a receptor for membrane bound ligands, and may play a role in vascular, renal and hepatic development. Two transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Jan 2011) UniProtKB/Swiss-Prot: NOTC2_HUMAN, Q04721 Function : Functions as a receptor for membrane-bound ligands Jagged1, Jagged2 and Delta1 to regulate cell-fatedetermination. Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus. Affects the implementation of differentiation, proliferation and apoptotic programs (By similarity). Involved in bone remodeling and homeostasis. In collaboration with RELA/p65 enhances NFATc1 promoter activity and positively regulates RANKL-induced osteoclast differentiation Gene Wiki entry for NOTCH2 (Notch-2)
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Genomic Viewsfor NOTCH2 gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,
and/or miRBase ,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69) ,
Regulatory elements and Epigenetics data according to
QIAGEN ,
SABiosciences , and/or
SwitchGear Genomics )About This Section RefSeq DNA sequence: NC_000001.10 NC_018912.1 NT_032977.9 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the NOTCH2 gene promoter: Elk-1 AML1a IRF-1 Tal-1beta C/EBPalpha MEF-2A Nkx6-1 aMEF-2 ITF-2 Other transcription factors Search SABiosciences Chromatin IP Primers for NOTCH2 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NOTCH2
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 1p13-p11 Ensembl cytogenetic band: 1p11.2 HGNC cytogenetic band: 1p13-p11 NOTCH2 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome 1 GeneLoc Exon Structure
GeneLoc location for GC01M120454: view genomic region
(about GC identifiers )
Start:
120,454,176 bp from pter
End:
120,612,276 bp from pter
Size:
158,101 bases
Orientation:
minus strand
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Proteinsfor NOTCH2 gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
Specific Peptides from DME ,
Protein expression images according to data from SPIRE MOPED and PaxDb ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from
EMD Millipore ,
R&D Systems ,
GenScript ,
Enzo Life Sciences ,
OriGene ,
Novus Biologicals ,
Sino Biological ,
ProSpec , and/or
Uscn ,
Biochemical Assays by
EMD Millipore ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene ,
Antibodies by
EMD Millipore ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals ,
Thermo Fisher Scientific ,
Abcam , and/or
Uscn )
About This Section UniProtKB/Swiss-Prot: NOTC2_HUMAN, Q04721 (See
protein sequence )Recommended Name: Neurogenic locus notch homolog protein 2 precursor Size : 2471 amino acids; 265405 Da
Subunit : Heterodimer of a C-terminal fragment N(TM) and an N-terminal fragment N(EC) which are probably linked bydisulfide bonds (By similarity). Interacts with MAML1, MAML2 and MAML3 which act as transcriptional coactivators for NOTCH2. Interacts with RELA/p65 (By similarity). Interacts with HIF1AN
Subcellular location : Cell membrane; Single-pass type I membrane protein
Subcellular location : Notch 2 intracellular domain: Nucleus. Note=Following proteolytical processing NICD istranslocated to the nucleus
1 PDB 3D structure from and Proteopedia for NOTCH2 :2OO4 (3D)
 
Secondary accessions : Q5T3X7 Q99734 Q9H240Explore the universe of human proteins at neXtProt for NOTCH2: NX_Q04721 Post-translational modifications:
Synthesized in the endoplasmic reticulum as an inactive form which is proteolytically cleaved by a furin-like convertase in the trans-Golgi network before it reaches the plasma membrane to yield an active, ligand-accessible form. Cleavage results in a C-terminal fragment N(TM) and a N-terminal fragment N(EC). Following ligand binding, it is cleaved by TNF-alpha converting enzyme (TACE) to yield a membrane-associated intermediate fragment called notch extracellular truncation (NEXT). This fragment is then cleaved by presenilin dependent gamma-secretase to release a notch-derived peptide containing the intracellular domain (NICD) from the membrane (By similarity)1
Hydroxylated by HIF1AN1
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_Q04721 NOTCH2 Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins (2 alternative transcripts):
NP_001186930.1 NP_077719.2 ENSEMBL proteins: ENSP00000256646 Reactome Protein details: Q04721 Human Recombinant Protein Products: Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9 ): About this table
NOTCH2 for ontologies About GeneDecksing NOTCH2 Antibody Products: Assay Products for NOTCH2:
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Protein
Domains / Familiesfor NOTCH2 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
NOTCH2 for domains About GeneDecksing 5/13 InterPro domains/families (see all 13 ):
Graphical View of Domain Structure for InterPro Entry Q04721 ProtoNet protein and cluster: Q04721
5 Blocks protein families : IPB000152 Aspartic acid and asparagine hydroxylation site IPB000800 LIN-12/notch repeat (LNR) signature IPB001438 Type II EGF-like signature IPB001881 EGF-like calcium-binding IPB002110 Ankyrin repeat signature UniProtKB/Swiss-Prot: NOTC2_HUMAN, Q04721 Similarity : Belongs to the NOTCH familySimilarity : Contains 6 ANK repeatsSimilarity : Contains 35 EGF-like domainsSimilarity : Contains 3 LNR (Lin/Notch) repeats
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Functionfor NOTCH2 gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences ,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene ,
RNAi from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
microRNA from QIAGEN ,
Gene Editing from DNA2.0 ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene .)
About This Section Function Summary: UniProtKB/Swiss-Prot: NOTC2_HUMAN, Q04721 Function : Functions as a receptor for membrane-bound ligands Jagged1, Jagged2 and Delta1 to regulate cell-fatedetermination. Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus. Affects the implementation of differentiation, proliferation and apoptotic programs (By similarity). Involved in bone remodeling and homeostasis. In collaboration with RELA/p65 enhances NFATc1 promoter activity and positively regulates RANKL-induced osteoclast differentiation
Genatlas biochemistry entry for NOTCH2 : Drosophila Notch homolog 2,mediating cell-cell interactions that specify cell fate during development,undergoing a first proteolytic cleavage by furin (PACE1) in the Golgi during trafficking of Notch to the cell surface,undergoing further cleavage by gamma secretase (see PSEN1) releasing an intracellular domain (NICD) which translocates to the nucleus and modulates transcription of target genes,putatively involved in neoplasia associated translocations Summary: During embryonic development, NOTCH2 as signaling molecule is secreted from the following cells: XX Germ Cells in Ovigerous Cord It affects the following cells: Pre-Granulosa Cells in Primordial Follicle Clone Products: Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for NOTCH2 (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for NOTCH2OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 2 ): NOTCH2 (NM_024408 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for NOTCH2 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat NOTCH2
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NOTCH2
Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view) : About this table
NOTCH2 for ontologies About GeneDecksing Animal Models: Mouse knock-outs for NOTCH2: Notch2 tm3.1Grid Notch2 tm2Grid Notch2 tm1Grid Notch2 tm2Hhi 15/23 MGI mutant phenotypes (inferred from 14 alleles ) (MGI details for Notch2) (see all 23 ):
NOTCH2 for phenotypes About GeneDecksing
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Pathways & Interactionsfor NOTCH2 gene
(Pathways according to
EMD Millipore ,
R&D Systems ,
Cell Signaling Technology ,
KEGG ,
PharmGKB ,
BioSystems ,
Reactome ,
Tocris Bioscience ,
GeneGo (Thomson Reuters) ,
QIAGEN ,
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Interaction Networks according to
SABiosciences ,
and/or STRING ,
Interactions according to 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene) .
About This Section Unified GeneCards pathways  - 5/18 super-pathways (see all 18 ) About this table See pathways by source Super-pathway contained gene-specific pathways 1 Mature NOTCH heterodimer traffics to the plasma membrane 2 NOTCH2 Activation and Transmission of Signal to the Nucleus 3 Notch Signaling Pathway 4 Generic Transcription Pathway 5 Pre-NOTCH Processing in Golgi
Pathway sources See GeneCards unified pathways Show all pathways 4 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for NOTCH2 3
Cell Signaling Technology (CST) Pathways for NOTCH2 4 BioSystems Pathways for NOTCH2 5/18
Reactome Pathways for NOTCH2 (see all 18 )2
Kegg Pathways (Kegg details for NOTCH2) :
NOTCH2 for pathways About GeneDecksing Interactions: SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NOTCH2 STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)5/97 Interacting proteins for NOTCH2 (Q04721 2 , 3 ENSP00000256646 4 ) via UniProtKB, MINT, STRING , and/or I2D (see all 97 )About this table Gene Ontology (GO): 5/31 biological process terms (GO ID links to tree view) (see all 31 ): About this table
NOTCH2 for ontologies About GeneDecksing
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Drugs & Compoundsfor NOTCH2 gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
EMD Millipore , Tocris Bioscience
HMDB ,
BitterDB , and/or
Novoseek , and Drugs according to
DrugBank ,
Enzo Life Sciences , and/or
PharmGKB , with drugs/clinical trials/news
search links to CenterWatch )
About This Section Browse Tocris compounds for NOTCH2 Search CenterWatch for drugs/clinical trials and news about NOTCH2 / NOTC2
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Transcriptsfor NOTCH2 gene (Secondary structures according to
fRNAdb ,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
shRNA from
OriGene ,
microRNA from QIAGEN ,
Tagged/untagged cDNA clones from
OriGene ,
SwitchGear Genomics ,
GenScript ,
DNA2.0 ,
Vector BioLabs ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN
)About This Section REFSEQ mRNAs for NOTCH2 gene (2 alternative transcripts): NM_001200001.1 NM_024408.3 Unigene Cluster for NOTCH2:
Notch 2 Hs.487360 [show with all ESTs ] Unigene Representative Sequence: NM_024408 5 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000256646 (uc021osy.1 uc001eik.3 uc001eil.3 uc001eim.4 )ENST00000493703 ENST00000478864 ENST00000479412 ENST00000489731 Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for NOTCH2 (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for NOTCH2OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 2 ): NOTCH2 (NM_024408 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for NOTCH2 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat NOTCH2
Additional cDNA sequence: AF308601.1 AF315356.1 AK027869.1 AK307843.1 AL049386.1 AL133036.1 BC071562.1 GQ231534.1 U77493.1
22 DOTS entries : DT.97837624 DT.453995
DT.97859603 DT.91725275 DT.121448121 DT.95330154 DT.121448068 DT.91639065 DT.95118850 DT.95249493 DT.121435635 DT.121448048 DT.100645100 DT.100844596 DT.440461 DT.92468886 DT.95113504 DT.121435354 DT.121435400 DT.121435413 DT.121435859 DT.121448099 24/379 AceView cDNA sequences (see all 379 ):
F03795 AW661928 BF797482 BE350245 H69945 AW468075 AW054433 CB043882 AI276327 BF887852 AA827551 BI038341 AW771162 AI784542 BP375766 AL042063 Z42377 BQ229392 AI093109 F13063 AF315356 BQ677636 AW075292 BQ678511 GeneLoc Exon Structure
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Expression for NOTCH2 gene
(RNA expression data according to
H-InvDB ,
NONCODE ,
miRBase , and
RNAdb ,
Expression images according to data from
BioGPS ,
Illumina Human BodyMap , and
CGAP
SAGE ,
Sets of similar genes according to GeneDecks ,
in vivo and in vitro expression data from LifeMap Discovery™ ,
plus additional links to
Genevestigator , and/or
SOURCE , and/or
BioGPS , and/or
UniProtKB ,
PCR Arrays from
SABiosciences ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN ,
In Situ Hybridization Assays from Advanced Cell Diagnostics )
About This Section NOTCH2 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: GACCTCTGTG
About this image NOTCH2 expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table See NOTCH2 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for NOTCH2 SOURCE GeneReport for Unigene cluster: Hs.487360 UniProtKB/Swiss-Prot: NOTC2_HUMAN, Q04721 Tissue specificity : Expressed in the brain, heart, kidney, lung, skeletal muscle and liver. Ubiquitously expressed inthe embryo SABiosciences Expression via Pathway-Focused PCR Arrays including NOTCH2 (see all 11 ): Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for NOTCH2Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat NOTCH2 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat NOTCH2 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat NOTCH2 In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NOTCH2
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Orthologsfor NOTCH2 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section
This gene was present in the common ancestor of animals.
Orthologs for NOTCH2 gene from 4/19 species (see all 19 ) About this table
Organism
Taxonomic classification
Gene
Description
Human Similarity
Orthology Type
Details
chicken (Gallus gallus)
Aves
NOTCH21
notch 2
74.11(n) 77.16(a)
 
374031 NM_001252033.1 NP_001238962.1
zebrafish (Danio rerio)
Actinopterygii
notch21
notch homolog 2
61.05(n) 58.89(a)
 
58065 NM_001115094.1 NP_001108566.1
fruit fly (Drosophila melanogaster)
Insecta
N3
determination of glial fate transmembrane receptor
49(a) (best of 3)
 
--
worm (Caenorhabditis elegans)
Secernentea
W02C12.13
EGF-like protein
38(a) (best of 9)
 
IV(4008218-4014159) --
ENSEMBL Gene Tree for NOTCH2 (if available)TreeFam Gene Tree for NOTCH2 (if available)
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Paralogsfor NOTCH2 gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for NOTCH2 gene NOTCH4 2 SNED1 2 NOTCH1 2 NOTCH3 2 DLL3 2 DLL4 2 JAG2 2 CRB2 2 JAG1 2 DNER 2 CRB1 2 DLL1 2 12 SIMAP similar genes for NOTCH2 using alignment to 3 protein entries: NOTC2_HUMAN (see all proteins ):NOTCH2NL NOTCH3 NOTCH1 F9 CUBN CNTNAP2 EFEMP1 PROS1 SNED1 NOTCH4 DLK2 EMR2
NOTCH2 for paralogs About GeneDecksing 1 Pseudogenes.org Pseudogene for NOTCH2 PGOHUM00000244876
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Genomic Variantsfor NOTCH2 gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
UniProtKB , and
DNA2.0 ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants , Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB) , Blood group antigen gene mutations by BGMUT ,
Resequencing Primers from QIAGEN ,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences )
About This Section
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical significance Chr 1 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for NOTCH2 (120454176 - 120612276 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 9 variations for NOTCH2 9 CNVs : 84503 84502 74666 39005 3309 74667 30405 22949 64724 Human Gene Mutation Database (HGMD) : NOTCH2 Locus Specific Mutation Databases (LSDB): NOTCH2 1 SABiosciences Cancer Mutation PCR Assay for NOTCH2 : Cosmic Id AA Change 36210 p.R2400*
3 SABiosciences Cancer Mutation PCR Arrays containing NOTCH2 :
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing NOTCH2
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Disorders
/ Diseasesfor NOTCH2 gene
(in which this Gene is Involved, According to MalaCards ,
OMIM, UniProtKB ,
the University of Copenhagen DISEASES
database , Novoseek ,
Genatlas , GeneTests ,
GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section
NOTCH2 for disorders About GeneDecksing OMIM gene information: 600275 OMIM disorders : 610205 UniProtKB/Swiss-Prot: NOTC2_HUMAN, Q04721
Defects in NOTCH2 are the cause of Alagille syndrome type 2 (ALGS2) [MIM:610205]. Alagille syndrome is an autosomal dominant multisystem disorder defined clinically by hepatic bile duct paucity and cholestasis in association with cardiac, skeletal, and ophthalmologic manifestations. There are characteristic facial features and less frequent clinical involvement of the renal and vascular systems Defects in NOTCH2 are the cause of Hajdu-Cheney syndrome (HJCYS) [MIM:102500]. A rare skeletal disorder characterized by the association of facial anomalies, acro-osteolysis, general osteoporosis, insufficient ossification of the skull, and periodontal disease (premature loss of permanent teeth). Other features include cleft palate, congenital heart defects, polycystic kidneys, orthopedic problems and anomalies of the genitalia, intestines and eyes. Note=NOTCH2 mutations associated with Hajdu-Cheney syndrome cluster to the last coding exon of the gene. This suggests that the mutant mRNA products may escape nonsense-mediated decay and the resulting truncated NOTCH2 proteins act in a gain-of-function manner 20/60 diseases for NOTCH2 (see all 60 ): About MalaCards hajdu-cheney syndrome splenic marginal zone lymphoma diffuse large b-cell lymphoma nodular regenerative hyperplasia alagille syndrome b-cell lymphomas hepatitis cutaneous malignant melanoma lymphocytic leukemia squamous cell carcinoma lung squamous cell carcinoma basal cell carcinoma chronic lymphocytic leukemia cholestasis osteolysis renal cell carcinoma sjogren's syndrome diabetes mellitus multiple myeloma arteriosclerosis 3 diseases from the University of Copenhagen DISEASES database for NOTCH2 :Alagille syndrome Hajdu-Cheney syndrome Cancer 6 Novoseek disease relationships for NOTCH2 gene About this table
GeneTests: NOTCH2 Alagille Syndrome Human Genome Epidemiology (HuGE) Navigator: NOTCH2 (44 documents) Export disorders for NOTCH2 gene to outside databases
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Publicationsfor NOTCH2 gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for NOTCH2 gene, integrated from 9 sources (see all 213 ): (articles sorted by number of sources associating them with NOTCH2) Utopia : connect your pdf to the dynamic world of online information
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis. (PubMed id 21378989) 1 , 2 Isidor B....Le Caignec C. (2011) Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss. (PubMed id 21378985) 1 , 2 Simpson M.A.... Trembath R.C. (2011) Asparaginyl hydroxylation of the Notch ankyrin repeat domain by factor inhibiting hypoxia-inducible factor. (PubMed id 17573339) 1 , 2 Coleman M.L....Schofield C.J. (2007) Structural basis for autoinhibition of Notch. (PubMed id 17401372) 1 , 2 Gordon W.R.... Blacklow S.C. (2007) NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway. (PubMed id 16773578) 1 , 2 McDaniell R.... Spinner N.B. (2006) Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983) 1 , 2 Olsen J.V....Mann M. (2006) Identification of a family of mastermind-like transcriptional coactivators for mammalian notch receptors. (PubMed id 12370315) 1 , 2 Wu L.... Griffin J.D. (2002) MAML1, a human homologue of Drosophila mastermind, is a transcriptional co-activator for NOTCH receptors. (PubMed id 11101851) 1 , 2 Wu L....Griffin J.D. (2000) Human ligands of the Notch receptor. (PubMed id 10079256) 1 , 2 Gray G.E.... Artavanis-Tsakonas S. (1999) Intracellular cleavage of Notch leads to a heterodimeric receptor on the plasma membrane. (PubMed id 9244302) 1 , 2 Blaumueller C.M.... Artavanis-Tsakonas S. (1997)
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External Searches for NOTCH2 gene
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Specialized Databases showing NOTCH2 gene (According to PharmGKB ,
ATLAS , HORDE , IMGT , LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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About This Section Patent Information for NOTCH2 gene: Search GeneIP for patents involving NOTCH2 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor NOTCH2 gene (Antibodies, recombinant proteins, and assays from EMD Millipore , R&D Systems , OriGene , QIAGEN , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Sino Biological , Enzo Life Sciences , Abcam , ProSpec , Uscn , Thermo Fisher Scientific , Gene Editing from DNA2.0 , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript and LifeMap BioReagents , PCR Arrays from SABiosciences , Drugs and/or compounds from EMD Millipore , Tocris Bioscience , and/or
Enzo Life Sciences ), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
Browse OriGene Antibodies OriGene shRNA RFP for NOTCH2 OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for NOTCH2 OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for NOTCH2 Browse OriGene Protein Over-expression Lysates Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for NOTCH2 OriGene 3'-UTR Clone for NOTCH2 OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for NOTCH2 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for NOTCH2 Browse OriGene GFP tagged cDNA clones in CMV expression vector Browse OriGene MicroRNA Expression Plasmids Browse OriGene basic RS shRNAs Browse OriGene validated miRNA SYBR primer pairs Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat NOTCH2 QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing NOTCH2 QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NOTCH2 QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat NOTCH2 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat NOTCH2 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat NOTCH2
Antibodies & Assays for NOTCH2   (Notch 2)
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NOTCH2
ThermoFisher Antibodies for NOTCH2
Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat NOTCH2
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