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NOTCH2NL Gene

protein-coding   GIFtS: 48
GCID: GC01P145209

Notch 2 N-Terminal Like

(Previous name: Notch homolog 2 (Drosophila) N-terminal like)
  See NOTCH2NL-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for NOTCH2NL Gene:
NOTCH2NL (notch 2 N-terminal like) is a protein-coding gene. Diseases associated with NOTCH2NL include hajdu-cheney syndrome. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is ENSG00000255168.

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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NC_018912.2  NT_004487.20  
Regulatory elements:
   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 Chromatin IP Primers for NOTCH2NL

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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
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: 

  • Cleaved by ELANE1
  • Glycosylation2 at Asn7

  • See NOTCH2NL Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_982283.2  
    ENSEMBL proteins: 
     ENSP00000354929   ENSP00000344557   ENSP00000358346  

    NOTCH2NL Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for NOTCH2NL

     
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    antibodies-online proteins for NOTCH2NL (3 products) 

     
    antibodies-online peptides for NOTCH2NL

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


    Find genes that share domains with NOTCH2NL           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding ----
         
    Find genes that share ontologies with NOTCH2NL           About GenesLikeMe


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NOTCH2NL
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    miRNA
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    miRTarBase miRNAs that target NOTCH2NL:
    hsa-mir-877-5p (MIRT037292)

    Block miRNA regulation of human, mouse, rat NOTCH2NL using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NOTCH2NL (see all 44):
    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
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NT2NL_HUMAN, Q7Z3S9: Secreted. Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    cytosol2
    nucleus2
    cytoskeleton1
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

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

    Find genes that share ontologies with NOTCH2NL           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Pathway & Disease-focused RT2 Profiler PCR Array including NOTCH2NL: 
              Notch Signaling Pathway in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for NOTCH2NL

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for NOTCH2NL (Q7Z3S92, 3 ENSP000003549294) via UniProtKB, MINT, STRING, and/or I2D (see all 148)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBQLN4Q9NRR52, 3, ENSP000003572924MINT-2879568 I2D: score=3 STRING: ENSP00000357292
    ELANEP082463, ENSP000002636214I2D: score=2 STRING: ENSP00000263621
    FBXO18ENSP000003693354STRING: ENSP00000369335
    ADAM10ENSP000002604084STRING: ENSP00000260408
    NCSTNENSP000002947854STRING: ENSP00000294785
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

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

    Find genes that share ontologies with NOTCH2NL           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for 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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for NOTCH2NL gene: 
    NM_203458.4  

    Unigene Cluster for NOTCH2NL:

    Notch 2 N-terminal like
    Hs.655156  [show with all ESTs]
    Unigene Representative Sequence: AK022008
    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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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat NOTCH2NL
      Search QuantiFast Probe-based Assays in human, mouse, rat NOTCH2NL

    Additional mRNA sequence: 

    AK000887.1 AK022008.1 

    3 DOTS entries:

    DT.426781  DT.102841663  DT.95180804 

    Selected AceView cDNA sequences (see all 31):

    BV193132 BV190158 BF431090 BU729361 BV185469 BV204994 AA297654 CA394927 
    BV185470 BV188754 AA013070 CF593482 BQ072537 H85791 BF820564 H02415 
    R73067 AW958878 BQ300554 BE622552 BX498779 AL833369 BG896879 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    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

    NOTCH2NL Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NOTCH2NL Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.655156

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

        Pathway & Disease-focused RT2 Profiler PCR Array including NOTCH2NL: 
              Notch Signaling Pathway in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NOTCH2NL

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for NOTCH2NL gene from Selected species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    oppossum
    (Monodelphis domestica)
    Mammalia --
    Uncharacterized protein
    35(a)
    many ↔ many
    2(314085770-314102552)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    13(a)
    1 → many
    GL344112.1(44-12270)
    zebrafish
    (Danio rerio)
    Actinopterygii si:dkey-1m11.66
    si:dkey-1m11.6
    3(a)
    many ↔ many
    15(30783429-30795675) ENSDARG00000097869
    worm
    (Caenorhabditis elegans)
    Secernentea egas-36
    egas-16
    (see all 4)
    Protein EGAS-1 (egas-1) mRNA, complete cds
    (see all 4)
    7(a)
    7(a)
    (see all 4)
    many ↔ many
    many ↔ many
    (see all 4)
    V(18628680-18636173) WBGene00013480
    V(18640337-18648392) WBGene00013486


    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)
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    Paralogs for NOTCH2NL gene
    LOC100996763  ENSG000002551682  
    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

    Find genes that share paralogs with NOTCH2NL           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for NOTCH2NL (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
    ----------
    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--------
    rs794349131,2
    C,F--145283699(+) TGAGGG/AGTGGG 1 -- ut312Minor allele frequency- A:0.37NA 8
    rs757385731,2
    C--145283718(+) GATTCG/AATGAA 1 -- ut311Minor allele frequency- A:0.50NA 2
    rs765058701,2
    C--145283733(+) AAACTG/AACATT 1 -- ut311Minor allele frequency- A:0.50NA 2
    rs2007329191,2
    C--145283980(+) CTGCAC/TATCTG 1 -- ut310--------

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

    Structural Variations
         Database of Genomic Variants (DGV) Selected 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

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    1 disease for NOTCH2NL:    
    About MalaCards
    hajdu-cheney syndrome

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

    Find genes that share disorders with NOTCH2NL           About GenesLikeMe


    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)
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    PubMed articles for NOTCH2NL gene, integrated from 10 sources (see all 11):
    (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. (Mol. Cell. Biol. 2004)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    3. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)
    4. Genome-scale RNAi screen for host factors required for HIV replication. (PubMed id 18976975)1 Zhou H....Espeseth A.S. (amp 2008)
    5. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
    6. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (Nature 2006)
    7. A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. (PubMed id 16713569)1 Lim J.... Zoghbi H.Y. (Cell 2006)
    8. 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. (DNA Res. 2005)
    9. Transcriptome analysis of human gastric cancer. (PubMed id 16341674)1 Oh J.H.... Kim N.S. (Mamm. Genome 2005)
    10. 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. (Genome Res. 2004)

    (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)
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    Entrez Gene: 388677 HGNC: 31862 AceView: N2N.1 Ensembl:ENSG00000213240 euGenes: HUgn388677
    ECgene: NOTCH2NL H-InvDB: NOTCH2NL

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    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.)
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    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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