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

NOTCH2NL Gene

protein-coding   GIFtS: 46
GCID: GC01P145209

Notch 2 N-Terminal Like

(Previous name: Notch homolog 2 (Drosophila) N-terminal like)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Notch 2 N-Terminal Like1 2
N2N2 3
Notch Homolog 2 (Drosophila) N-Terminal Like1
Notch Homolog 2 N-Terminal Like Protein2
Notch Homolog 2 N-Terminal-Like Protein2

External Ids:    HGNC: 318621   Entrez Gene: 3886772   Ensembl: ENSG000002132407   UniProtKB: Q7Z3S93   

Export aliases for NOTCH2NL gene to outside databases

Previous GC identifers: GC01P142699 GC01P143920


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for NOTCH2NL Gene: 
NOTCH2NL (notch 2 N-terminal like) is a protein-coding gene. Diseases associated with NOTCH2NL include hajdu-cheney syndrome, and alagille syndrome. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is EYS.

UniProtKB/Swiss-Prot: NT2NL_HUMAN, Q7Z3S9
Function: May function in the Notch signaling pathway and regulate neutrophil differentiation




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_167185.1  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NOTCH2NL gene promoter:
         HOXA9B   HOXA9   Elk-1   AP-1   AML1a   IRF-1   Tal-1beta   C/EBPalpha   Meis-1a   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNOTCH2NL promoter sequence
   Search SABiosciences Chromatin IP Primers for NOTCH2NL

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NOTCH2NL


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q21.2   Ensembl cytogenetic band:  1q21.1   HGNC cytogenetic band: 1q21.2

NOTCH2NL Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NOTCH2NL gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P145209:  view genomic region     (about GC identifiers)

Start:
145,209,111 bp from pter      End:
145,291,972 bp from pter
Size:
82,862 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: NT2NL_HUMAN, Q7Z3S9 (See protein sequence)
Recommended Name: Notch homolog 2 N-terminal-like protein  
Size: 236 amino acids; 25835 Da
Subunit: Interacts with ELANE
Subcellular location: Secreted. Cytoplasm
Sequence caution: Sequence=AAH84572.1; Type=Erroneous initiation; Sequence=BAC11381.1; Type=Erroneous initiation;
Secondary accessions: Q5BKT8 Q5VTG9 Q5XG84 Q6P192 Q8NC23 Q8WUQ9 Q96FY1
Alternative splicing: 3 isoforms:  Q7Z3S9-1   Q7Z3S9-2   Q7Z3S9-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NOTCH2NL: NX_Q7Z3S9

Explore proteomics data for NOTCH2NL at MOPED 

Post-translational modifications:

  • UniProtKB: Cleaved by ELANE
  • View neXtProt modification sites for NX_Q7Z3S9

  • NOTCH2NL Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NOTCH2NL Protein Expression
    REFSEQ proteins: NP_982283.2  
    ENSEMBL proteins: 
     ENSP00000354929   ENSP00000344557   ENSP00000358346  

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    Cloud-Clone Corp. Proteins for NOTCH2NL 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005737cytoplasm IEA--

    NOTCH2NL for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5 InterPro protein domains:
     IPR000742 EG-like_dom
     IPR000152 EGF-type_Asp/Asn_hydroxyl_site
     IPR018097 EGF_Ca-bd_CS
     IPR001881 EGF-like_Ca-bd
     IPR013032 EGF-like_CS

    Graphical View of Domain Structure for InterPro Entry Q7Z3S9

    ProtoNet protein and cluster: Q7Z3S9

    1 Blocks protein domain: IPB000152 Aspartic acid and asparagine hydroxylation site

    UniProtKB/Swiss-Prot: NT2NL_HUMAN, Q7Z3S9
    Similarity: Belongs to the NOTCH family
    Similarity: Contains 6 EGF-like domains


    NOTCH2NL for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NT2NL_HUMAN, Q7Z3S9
    Function: May function in the Notch signaling pathway and regulate neutrophil differentiation

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding ----
         
    NOTCH2NL for ontologies           About GeneDecksing


    Animal Models:
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    SwitchGear 3'UTR luciferase reporter plasmidNOTCH2NL 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section




    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NOTCH2NL

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    4 Interacting proteins for NOTCH2NL (Q7Z3S92, 3 ENSP000003549294) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBQLN4Q9NRR52, 3, ENSP000003572924MINT-2879568 I2D: score=3 STRING: ENSP00000357292
    ELANEP082463, ENSP000002636214I2D: score=2 STRING: ENSP00000263621
    FBXO18ENSP000003693354STRING: ENSP00000369335
    POLR2GENSP000003017884STRING: ENSP00000301788
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007219Notch signaling pathway IEA--
    GO:0007275multicellular organismal development IEA--
    GO:0030154cell differentiation IEA--

    NOTCH2NL for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 NOTCH2NL (NT2NL)

    Search CenterWatch for drugs/clinical trials and news about NOTCH2NL / NT2NL

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for NOTCH2NL gene: 
    NM_203458.4  

    Unigene Clusters for NOTCH2NL:

    Notch 2 N-terminal like
    Hs.655156  [show with all ESTs], Hs.728902  [show with all ESTs]
    Unigene Representative Sequences: AK022008, BX537434
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000362074 ENST00000344859(uc001emo.2) ENST00000369340(uc001emn.4 uc001emm.4)
    ENST00000479995
    miRNA
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    hsa-miR-2052 hsa-miR-3678-3p hsa-miR-26a-2* hsa-miR-4254 hsa-miR-3938 hsa-miR-4328 hsa-miR-128 hsa-miR-765
    SwitchGear 3'UTR luciferase reporter plasmidNOTCH2NL 3' UTR sequence
    Inhib. RNA
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      Search QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NOTCH2NL

    Additional mRNA sequence: 

    AK075065.1 AK098372.1 BC010154.2 BC019835.1 BC065219.1 BC084572.1 BC090943.1 BX537434.1 
    XR_159176.1 XR_171241.1 

    22 DOTS entries:

    DT.121435635  DT.95118850  DT.40267767  DT.75103301  DT.206058  DT.121435413  DT.121435859  DT.426781 
    DT.100645150  DT.99936040  DT.91725275  DT.121435400  DT.121435500  DT.121435975  DT.102841663  DT.121435541 
    DT.121435594  DT.121435354  DT.121448119  DT.211344  DT.95180804  DT.95249493 

    24/31 AceView cDNA sequences (see all 31):

    AA297654 BV185469 BV193132 BV190158 BV185470 CA394927 BV188754 BF431090 
    BU729361 BV204994 CF593482 AA013070 H85791 BQ072537 BE622552 AW958878 
    BQ300554 H02415 R73067 BF820564 AL833369 BG896879 BX498779 AA665280 

    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

    NOTCH2NL expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTTTTTGGCA
    NOTCH2NL Expression
    About this image


    See NOTCH2NL Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NOTCH2NL

    SOURCE GeneReport for Unigene clusters: Hs.655156 Hs.728902

    UniProtKB/Swiss-Prot: NT2NL_HUMAN, Q7Z3S9
    Tissue specificity: Widely expressed with higher levels in leukocytes and lymph nodes

        SABiosciences Expression via Pathway-Focused PCR Array including NOTCH2NL: 
              Notch Signaling Pathway in human mouse rat

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    In Situ
    Assay Products:
     

     
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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 NOTCH2NL gene from 4/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves DLK16
    DLK26
    delta-like 2 homolog (Drosophila)
    20(a)
    18(a)
    possible ortholog
    possible ortholog
    5(48844046-48853652)
    3(30327549-30343390)
    lizard
    (Anolis carolinensis)
    Reptilia DLK16
    DLK26
    delta-like 2 homolog (Drosophila)
    21(a)
    20(a)
    possible ortholog
    possible ortholog
    GL343270.1(246311-258108)
    1(231184936-231220461)
    zebrafish
    (Danio rerio)
    Actinopterygii dlk26
    DLK16
    delta-like 1 homolog (Drosophila)
    19(a)
    16(a)
    possible ortholog
    possible ortholog
    13(3846564-3870433)
    17(40370-48551)
    worm
    (Caenorhabditis elegans)
    Secernentea eat-206
    F55H12.36
    (see all 5)
    Protein F55H12.3
    (see all 5)
    7(a)
    3(a)
    (see all 5)
    many ↔ many
    many ↔ many
    (see all 5)
    X(15516655-15524000)
    I(8876372-8893051)
            Species with no ortholog for NOTCH2NL

    ENSEMBL Gene Tree for NOTCH2NL (if available)
    TreeFam Gene Tree for NOTCH2NL (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NOTCH2NL gene
    EYS2  CRB22  NOTCH42  NOTCH22  ENSG000002551682  NOTCH12  CRB12  NOTCH32  
    12 SIMAP similar genes for NOTCH2NL using alignment to 1 protein entry:     NT2NL_HUMAN:
    NOTCH2    FAT3    CNTNAP2    NOTCH3    FAT1    NOTCH1
    CRB2    FAT4    SVEP1    DLK1    LRP1    SLIT3

    NOTCH2NL for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    10/52 SNPs in NOTCH2NL are shown (see all 52)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0436044
    ----see VAR_0436042 E Q mis40--------
    VAR_0436014
    ----see VAR_0436012 S P mis40--------
    VAR_0436024
    ----see VAR_0436022 T I mis40--------
    VAR_0436034
    ----see VAR_0436032 T S mis40--------
    rs1434861691,2
    C--145218357(+) ATATA-/ATATA 
            
    TATTT
    1 -- int10--------
    rs750022921,2
    F--145230357(+) AAAAAC/AAAAAA 1 -- int12Minor allele frequency- A:0.50NA 4
    rs92868251,2
    C--145253765(+) ACGAT-/A/AA  
            
    AAAAA
    1 -- int11CSA 2
    rs2016175101,2
    C--145278750(+) TTTCT-/TTCT/ 
    TTCTTTCT
    CTCTC
    1 -- int10--------
    rs106258641,2
    C--145278835(+) TTCTT-/TCTT  
            
    CTCAC
    1 -- int10--------
    rs1392557351,2
    C--145283557(+) GATTCC/TGCAGC 1 -- ut310--------

    HapMap Linkage Disequilibrium report for NOTCH2NL (145209111 - 145291972 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/31 variations for NOTCH2NL (see all 31):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2717206CNV Deletion23290073
    dgv15n16CNV Deletion17901297
    dgv66e199CNV Deletion23128226
    dgv46e201CNV Deletion23290073
    esv2717385CNV Deletion23290073
    nsv820512CNV Duplication20802225
    esv2422428CNV Duplication17116639
    nsv509457CNV Insertion20534489
    nsv436028CNV Insertion17901297
    esv269263CNV Insertion20981092

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    3 diseases for NOTCH2NL:    About MalaCards
    hajdu-cheney syndrome    alagille syndrome    neutropenia

    3 diseases from the University of Copenhagen DISEASES database for NOTCH2NL:
    Alagille syndrome     Hajdu-Cheney syndrome     Cancer

    NOTCH2NL for disorders           About GeneDecksing


    Export disorders for NOTCH2NL 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 NOTCH2NL gene integrated from 9 sources:
    (articles sorted by number of sources associating them with NOTCH2NL)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel notch protein, N2N, targeted by neutrophil elastase and implicated in hereditary neutropenia. (PubMed id 14673143)1, 2, 3 Duan Z.... Horwitz M. (2004)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Toward an understanding of the protein interaction net work of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (2011)
    4. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    5. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (2006)
    6. A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. (PubMed id 16713569)1 Lim J.... Zoghbi H.Y. (2006)
    7. Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PubMed id 16303743)1 Otsuki T....Isogai T. (2005)
    8. Transcriptome analysis of human gastric cancer. (PubMed id 16341674)1 Oh J.H....Kim N.S. (2005)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 388677 HGNC: 31862 AceView: N2N.1 Ensembl:ENSG00000213240 euGenes: HUgn388677
    ECgene: NOTCH2NL H-InvDB: NOTCH2NL

    (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 NOTCH2NL Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for NOTCH2NL gene:
    Search GeneIP for patents involving NOTCH2NL

    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: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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