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Aliases for NOTCH2NL Gene

Aliases for NOTCH2NL Gene

  • Notch 2 N-Terminal Like 2 3 5
  • N2N 3 4
  • Notch Homolog 2 (Drosophila) N-Terminal Like 2
  • Notch Homolog 2 N-Terminal-Like Protein 3
  • Notch Homolog 2 N-Terminal Like Protein 3

External Ids for NOTCH2NL Gene

Previous GeneCards Identifiers for NOTCH2NL Gene

  • GC01P142699
  • GC01P143920
  • GC01P145209

Summaries for NOTCH2NL Gene

GeneCards Summary for NOTCH2NL Gene

NOTCH2NL (Notch 2 N-Terminal Like) is a Protein Coding gene. Among its related pathways are Notch Signaling Pathway (sino). Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is ENSG00000213240.

UniProtKB/Swiss-Prot for NOTCH2NL Gene

  • May function in the Notch signaling pathway and regulate neutrophil differentiation.

Additional gene information for NOTCH2NL Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NOTCH2NL Gene

Genomics for NOTCH2NL Gene

GeneHancer (GH) Regulatory Elements for NOTCH2NL Gene

Promoters and enhancers for NOTCH2NL Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I146226 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.8 +1.0 996 3.3 HDGF CLOCK ARNT SIN3A FEZF1 ZNF2 ZBTB7B POLR2B ZNF213 ZNF302 NOTCH2NL LOC105371254 ENSG00000213240 PIAS3 POLR3C NBPF20 ENSG00000234225 GPR89A NUDT17 PEX11B
GH01I146209 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 25.1 +16.9 16875 4.4 SMARCE1 ZNF174 L3MBTL2 JUN ZNF10 NFRKB CBFA2T3 ZNF316 SMARCA4 PRDM10 NOTCH2NL NBPF10 PIR33330 ENSG00000213240 PIR39582
GH01I145976 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 9.3 +246.7 246749 10.6 CLOCK YBX1 FEZF1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC NBPF20 POLR3C GPR89A PIAS3 ANKRD35 HFE2 RBM8A LIX1L-AS1 PEX11B ENSG00000213240
GH01I146241 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 13.6 -13.1 -13053 1 MEIS2 PKNOX1 ATF1 MAFG ZNF316 ZNF585B CREB1 ZNF143 NFE2 EMSY NOTCH2NL NBPF10 LOC105371254 LOC105371249
GH01I146248 Enhancer 0.9 FANTOM5 Ensembl dbSUPER 17.9 -19.8 -19769 0.4 SMARCE1 NBN FOS ZNF600 NOTCH2NL NBPF10 LOC105371254 LOC105371249
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NOTCH2NL on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NOTCH2NL gene promoter:

Genomic Locations for NOTCH2NL Gene

Genomic Locations for NOTCH2NL Gene
chr1:146,146,203-146,229,032
(GRCh38/hg38)
Size:
82,830 bases
Orientation:
Minus strand
chr1:145,209,111-145,291,972
(GRCh37/hg19)

Genomic View for NOTCH2NL Gene

Genes around NOTCH2NL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NOTCH2NL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NOTCH2NL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NOTCH2NL Gene

Proteins for NOTCH2NL Gene

  • Protein details for NOTCH2NL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z3S9-NT2NL_HUMAN
    Recommended name:
    Notch homolog 2 N-terminal-like protein
    Protein Accession:
    Q7Z3S9
    Secondary Accessions:
    • Q5BKT8
    • Q5VTG9
    • Q5XG84
    • Q6P192
    • Q8NC23
    • Q8WUQ9
    • Q96FY1

    Protein attributes for NOTCH2NL Gene

    Size:
    236 amino acids
    Molecular mass:
    25835 Da
    Quaternary structure:
    • Interacts with ELANE.
    SequenceCaution:
    • Sequence=AAH84572.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAC11381.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for NOTCH2NL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NOTCH2NL Gene

Post-translational modifications for NOTCH2NL Gene

Other Protein References for NOTCH2NL Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NOTCH2NL Gene

Domains & Families for NOTCH2NL Gene

Gene Families for NOTCH2NL Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for NOTCH2NL Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q7Z3S9

UniProtKB/Swiss-Prot:

NT2NL_HUMAN :
  • Belongs to the NOTCH family.
Family:
  • Belongs to the NOTCH family.
genes like me logo Genes that share domains with NOTCH2NL: view

Function for NOTCH2NL Gene

Molecular function for NOTCH2NL Gene

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

Gene Ontology (GO) - Molecular Function for NOTCH2NL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with NOTCH2NL: view
genes like me logo Genes that share phenotypes with NOTCH2NL: view

Animal Model Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NOTCH2NL Gene

Localization for NOTCH2NL Gene

Subcellular locations from UniProtKB/Swiss-Prot for NOTCH2NL Gene

Secreted. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NOTCH2NL gene
Compartment Confidence
extracellular 3
cytosol 2

Gene Ontology (GO) - Cellular Components for NOTCH2NL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with NOTCH2NL: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NOTCH2NL Gene

Pathways & Interactions for NOTCH2NL Gene

SuperPathways for NOTCH2NL Gene

SuperPathway Contained pathways
1 Notch Signaling Pathway (sino)
genes like me logo Genes that share pathways with NOTCH2NL: view

Pathways by source for NOTCH2NL Gene

1 Sino Biological pathway for NOTCH2NL Gene

Gene Ontology (GO) - Biological Process for NOTCH2NL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007219 Notch signaling pathway IEA --
GO:0007275 multicellular organism development IEA --
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with NOTCH2NL: view

No data available for SIGNOR curated interactions for NOTCH2NL Gene

Drugs & Compounds for NOTCH2NL Gene

No Compound Related Data Available

Transcripts for NOTCH2NL Gene

mRNA/cDNA for NOTCH2NL Gene

(1) REFSEQ mRNAs :
(12) Additional mRNA sequences :
(13) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for NOTCH2NL Gene

Notch 2 N-terminal like:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NOTCH2NL Gene

No ASD Table

Relevant External Links for NOTCH2NL Gene

GeneLoc Exon Structure for
NOTCH2NL
ECgene alternative splicing isoforms for
NOTCH2NL

Expression for NOTCH2NL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NOTCH2NL Gene

NURSA nuclear receptor signaling pathways regulating expression of NOTCH2NL Gene:

NOTCH2NL

SOURCE GeneReport for Unigene cluster for NOTCH2NL Gene:

Hs.655156

mRNA Expression by UniProt/SwissProt for NOTCH2NL Gene:

Q7Z3S9-NT2NL_HUMAN
Tissue specificity: Widely expressed with higher levels in leukocytes and lymph nodes.

Evidence on tissue expression from TISSUES for NOTCH2NL Gene

  • Eye(4.3)
  • Nervous system(4.3)
  • Liver(4.2)
  • Pancreas(4.2)
genes like me logo Genes that share expression patterns with NOTCH2NL: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for NOTCH2NL Gene

Orthologs for NOTCH2NL Gene

This gene was present in the common ancestor of human and chimp.

Orthologs for NOTCH2NL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NOTCH2NL 33
  • 95.72 (n)
Species where no ortholog for NOTCH2NL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for NOTCH2NL Gene

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

Paralogs for NOTCH2NL Gene

Paralogs for NOTCH2NL Gene

(12) SIMAP similar genes for NOTCH2NL Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with NOTCH2NL: view

Variants for NOTCH2NL Gene

Sequence variations from dbSNP and Humsavar for NOTCH2NL Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs10399807 -- 146,169,243(-) C/T intron_variant
rs10429826 -- 146,207,288(-) T/C/G intron_variant
rs10429827 -- 146,207,725(-) C/T intron_variant
rs1053710 -- 146,156,188(-) C/G/T coding_sequence_variant, missense_variant
rs1053717 -- 146,156,166(-) T/C/G coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for NOTCH2NL Gene

Variant ID Type Subtype PubMed ID
nsv831348 CNV loss 17160897
nsv831337 CNV loss 17160897
nsv8091 CNV gain 18304495
nsv510962 OTHER complex 20534489
nsv509457 CNV insertion 20534489
nsv508582 CNV deletion 20534489
nsv2677 CNV deletion 18451855
nsv1151944 CNV duplication 26484159
nsv1147576 CNV duplication 26484159
nsv1132306 CNV duplication 24896259
nsv1132305 CNV duplication 24896259
nsv1132304 CNV duplication 24896259
nsv1077298 CNV duplication 25765185
nsv1005055 CNV loss 25217958
nsv1003688 CNV gain 25217958
esv3578147 CNV loss 25503493
esv3578146 CNV loss 25503493
esv3578145 CNV loss 25503493
esv3578144 CNV loss 25503493
esv3578143 CNV loss 25503493
esv3571231 CNV gain 25503493
esv3571119 CNV gain 25503493
esv3540378 CNV deletion 23714750
esv3540367 CNV deletion 23714750
esv2761299 CNV gain+loss 21179565
dgv66e199 CNV deletion 23128226
dgv327n100 CNV gain 25217958

Variation tolerance for NOTCH2NL Gene

Residual Variation Intolerance Score: 99.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.11; 2.47% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NOTCH2NL Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NOTCH2NL

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NOTCH2NL Gene

Disorders for NOTCH2NL Gene

Additional Disease Information for NOTCH2NL

No disorders were found for NOTCH2NL Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for NOTCH2NL Gene

Publications for NOTCH2NL Gene

  1. A novel notch protein, N2N, targeted by neutrophil elastase and implicated in hereditary neutropenia. (PMID: 14673143) Duan Z … Horwitz M (Molecular and cellular biology 2004) 2 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing. (PMID: 26871637) Yang X … Vidal M (Cell 2016) 3 58
  4. Widespread macromolecular interaction perturbations in human genetic disorders. (PMID: 25910212) Sahni N … Vidal M (Cell 2015) 3 58
  5. Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism. (PMID: 24722188) Corominas R … Iakoucheva LM (Nature communications 2014) 3 58

Products for NOTCH2NL Gene

Sources for NOTCH2NL Gene

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