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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NOTCH2 Gene

protein-coding   GIFtS: 69
GCID: GC01M120454

notch 2

(Previous names: Notch (Drosophila) homolog 2, Notch homolog 2 (Drosophila)...)
 Explore 60 diseases affiliated with
NOTCH2 via our new
 Human Malady Compendium 
Biological research products
for NOTCH2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Notch 21 2 3     Notch Homolog 2 (Drosophila)1
HN21     HJCYS2
AGS22 5     Neurogenic Locus Notch Homolog Protein 22
Notch (Drosophila) Homolog 21     Notch Homolog 22

External Ids:    HGNC: 78821   Entrez Gene: 48532   Ensembl: ENSG000001342507   OMIM: 6002755   UniProtKB: Q047213   

Export aliases for NOTCH2 gene to outside databases

Previous GC identifers: GC01M120900 GC01M119292 GC01M119601 GC01M119800 GC01M120100 GC01M120256 GC01M118312


(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-fate
determination. 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)


(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

SwitchGear Promoter luciferase reporter plasmids (see all 4): NOTCH2 promoter sequence
   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)
NOTCH2 gene location

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

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, 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 by
disulfide 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 is
translocated to the nucleus
1 PDB 3D structure from and Proteopedia for NOTCH2:
2OO4 (3D)    
Secondary accessions: Q5T3X7 Q99734 Q9H240

Explore 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 PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q04721

  • NOTCH2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001186930.1  NP_077719.2  

    ENSEMBL proteins: 
     ENSP00000256646  
    Reactome Protein details: Q04721
    Human Recombinant Protein Products: 
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    Uscn Proteins for NOTCH2

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005576extracellular region TAS--
    GO:0005634nucleus IDA1303260
    GO:0005654nucleoplasm TAS--
    GO:0005789endoplasmic reticulum membrane TAS--


    NOTCH2 for ontologies           About GeneDecksing



    NOTCH2 Antibody Products: 
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    (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):
     IPR010660 Notch_NOD_dom
     IPR024600 DUF3454_notch
     IPR001881 EGF-like_Ca-bd
     IPR008297 Notch
     IPR000742 EG-like_dom

    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 family
    Similarity: Contains 6 ANK repeats
    Similarity: Contains 35 EGF-like domains
    Similarity: Contains 3 LNR (Lin/Notch) repeats


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, 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-fate
    determination. 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

    miRNA
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    miRTarBase miRNAs that target NOTCH2:
    hsa-mir-16 (MIRT001437), hsa-mir-1 (MIRT001353), hsa-mir-34a (MIRT005029), hsa-mir-326 (MIRT004425), hsa-mir-181c (MIRT003209)

    OriGene 3'-UTR Clone: NOTCH2
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    8/84 QIAGEN miScript miRNA Assays for microRNAs that regulate NOTCH2 (see all 84):
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004872receptor activity NAS9244302
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI11101851


    NOTCH2 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for NOTCH2: Notch2tm3.1Grid Notch2tm2Grid Notch2tm1Grid Notch2tm2Hhi
         15/23 MGI mutant phenotypes (inferred from 14 alleles(MGI details for Notch2) (see all 23):
     cardiovascular system  cellular  craniofacial  digestive/alimentary  embryogenesis 
     endocrine/exocrine gland  growth/size  hematopoietic system  homeostasis/metabolism  immune system 
     integument  liver/biliary system  mortality/aging  muscle  nervous system 

    NOTCH2 for phenotypes           About GeneDecksing


    (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 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, 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 18About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Mature NOTCH heterodimer traffics to the plasma membrane
    Mature NOTCH heterodimer traffics to the plasma membrane1.00
    A third proteolytic cleavage releases NICD0.44
    Transport of fringe-modified NOTCH to plasma membrane1.00
    NICD traffics to nucleus0.31
    Transport of NOTCH precursor to Golgi1.00
    Notch-HLH transcription pathway0.31
    Pre-NOTCH Processing in the Endoplasmic Reticulum0.67
    2NOTCH2 Activation and Transmission of Signal to the Nucleus
    NOTCH2 Activation and Transmission of Signal to the Nucleus1.00
    Receptor-ligand binding initiates the second proteolytic cleavage of Notch receptor0.43
    Signaling by NOTCH21.00
    3Notch Signaling Pathway
    Notch Signaling Pathway1.00
    Delta-Notch Signaling Pathway0.27
    Notch signaling pathway0.82
    4Generic Transcription Pathway
    Generic Transcription Pathway1.00
    Gene Expression0.46
    5Pre-NOTCH Processing in Golgi
    Pre-NOTCH Processing in Golgi1.00
    Pre-NOTCH Expression and Processing0.55

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    4 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for NOTCH2
        Notch Signaling
    Molecular Mechanisms of Cancer
    Presenilin-Mediated Signaling
    Epithelial Adherens Junctions

    3 Cell Signaling Technology (CST) Pathways for NOTCH2
        Wnt / Hedgehog / Notch
    Angiogenesis
    Neuroscience

    4 BioSystems Pathways for NOTCH2 
        Neural Crest Differentiation
    Notch Signaling Pathway
    Delta-Notch Signaling Pathway
    Notch signaling pathway

    5/18        Reactome Pathways for NOTCH2 (see all 18)
        Pre-NOTCH Expression and Processing
    A third proteolytic cleavage releases NICD
    Notch-HLH transcription pathway
    Signaling by NOTCH2
    Signal Transduction


    2         Kegg Pathways  (Kegg details for NOTCH2):
        Dorso-ventral axis formation
    Notch signaling pathway


    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 (Q047212, 3 ENSP000002566464) via UniProtKB, MINT, STRING, and/or I2D (see all 97)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H3AP684313I2D: score=1 
    HIST1H3BP684313I2D: score=1 
    HIST1H3CP684313I2D: score=1 
    HIST1H3DP684313I2D: score=1 
    HIST1H3EP684313I2D: score=1 
    About this table

    Gene Ontology (GO): 5/31 biological process terms (GO ID links to tree view) (see all 31):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001701in utero embryonic development IEA--
    GO:0001709cell fate determination TAS9244302
    GO:0002011morphogenesis of an epithelial sheet IEA--
    GO:0002437inflammatory response to antigenic stimulus IEA--
    GO:0003184pulmonary valve morphogenesis IMP16773578


    NOTCH2 for ontologies           About GeneDecksing



    (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 Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for NOTCH2
    Search CenterWatch for drugs/clinical trials and news about NOTCH2 / NOTC2 

    (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

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    hsa-miR-548j hsa-miR-579 hsa-miR-146a hsa-miR-15a hsa-miR-218-1* hsa-miR-485-3p hsa-miR-374a hsa-miR-548a-5p
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    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


    (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 imageBioGPS
    CGAP TAG: GACCTCTGTG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    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
    10/57 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 57
    Tissue Anatomical Compartment CellCategory (developmental path)
    HeartOutflow TractCardiomyocytesMyocardium
    KidneyRenal VesicleDistal Renal Vesicle CellsKidney
    KidneyRenal VesicleProximal Renal Vesicle CellsKidney
    KidneyS-shaped Body Distal SegmentS-shaped Body Distal CellsKidney
    KidneyS-shaped Body Medial SegmentS-shaped Body Medial CellsKidney
    KidneyS-shaped Body Proximal SegmentS-shaped Body Proximal CellsKidney
    LimbForelimb Dorsal MusclesMononuclear MyocytesSkeletal Muscle
    LimbForelimb Dorsal MusclesMyoblastsSkeletal Muscle
    LimbForelimb Ventral MusclesMononuclear MyocytesSkeletal Muscle
    LimbForelimb Ventral MusclesMyoblastsSkeletal Muscle
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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 in
    the embryo

        SABiosciences Expression via Pathway-Focused PCR Arrays including NOTCH2 (see all 11): 
              Neurogenesis in human mouse rat
              Stem Cell Transcription Factors in human mouse rat
              Adherens Junctions in human mouse rat
              Stem Cell Signaling in human mouse rat
              Cell Junction PathwayFinder in human mouse rat

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl 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) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NOTCH2 gene
    NOTCH42  SNED12  NOTCH12  NOTCH32  DLL32  DLL42  JAG22  CRB22  
    JAG12  DNER2  CRB12  DLL12  
    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


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 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

    10/2191 NCBI SNPs in NOTCH2 are shown (see all 2191    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1110336321,2
    Cpathogenic120510178(-) TGAGTA/GTCTGA 4 Y C mis10--------
    rs1396103741,2
    --120453754(+) GGATCC/TACTGA 1 -- ds50010--------
    rs1876014041,2
    --120453822(+) TCTGAA/GTGGCC 1 -- ds50010--------
    rs1922783991,2
    --120453831(+) CCGGCC/TTGCAC 1 -- ds50010--------
    rs1493059931,2
    --120453961(+) AATTAC/TGTTAA 1 -- ds50010--------
    rs170244871,2
    C,F,H,--120454086(+) GACTGA/GTAAGT 1 -- ds500114Minor allele frequency- G:0.06NA NS EA WA CSA 810
    rs1848628371,2
    --120454180(+) ATTCAC/TGTTCA 1 -- ut310--------
    rs1445548911,2
    --120454525(+) TTATGA/TTCTAA 1 -- ut310--------
    rs1905520441,2
    --120454564(+) CTAGGA/CTTTGT 1 -- ut310--------
    rs1484479011,2
    --120454588(+) AAAAGA/TAAATT 1 -- ut310--------

    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 IdAA Change
    36210p.R2400*
    3 SABiosciences Cancer Mutation PCR Arrays containing NOTCH2:
    Tyrosine Kinases & Cell Signaling Pathways Panel 384HT
    Cancer Comprehensive Panel 384HT
    Oncogene Panel 384HT
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NOTCH2
    DNA2.0 Custom Variant and Variant Library Synthesis for NOTCH2

    (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

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alagille syndrome 78.1 8 11861489 (3), 19914235 (1), 19551907 (1)
    lymphocytic leukemia chronic b-cell 33.9 1 15621797 (1)
    cholestasis 28.5 1 15307138 (1)
    tumors 13.6 18 17675579 (2), 15520184 (2), 18087195 (2), 19904829 (1) (see all 8)
    cancer 0.41 2 17675579 (1), 19445024 (1)
    breast cancer 0 12 15492845 (5), 18087195 (3), 17675579 (2)

    GeneTests: NOTCH2
    Alagille Syndrome

    Human Genome Epidemiology (HuGE) Navigator: NOTCH2 (44 documents)

    Export disorders for NOTCH2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    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

    1. 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)
    2. 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)
    3. 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)
    4. Structural basis for autoinhibition of Notch. (PubMed id 17401372)1, 2 Gordon W.R.... Blacklow S.C. (2007)
    5. NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway. (PubMed id 16773578)1, 2 McDaniell R.... Spinner N.B. (2006)
    6. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    7. Identification of a family of mastermind-like transcriptional coactivators for mammalian notch receptors. (PubMed id 12370315)1, 2 Wu L.... Griffin J.D. (2002)
    8. 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)
    9. Human ligands of the Notch receptor. (PubMed id 10079256)1, 2 Gray G.E.... Artavanis-Tsakonas S. (1999)
    10. 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4853 HGNC: 7882 AceView: NOTCH2 Ensembl:ENSG00000134250 euGenes: HUgn4853
    ECgene: NOTCH2 Kegg: 4853 H-InvDB: NOTCH2

    (According to HUGE)
    About This Section
      --

    (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
    NameDescription
    PharmGKB entry for NOTCH2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for NOTCH2 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NOTCH2

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    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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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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