Aliases for NOTCH2NLA Gene

Aliases for NOTCH2NLA Gene

  • Notch 2 N-Terminal Like A 2 3 5
  • N2N 2 3 4
  • Notch Homolog 2 N-Terminal-Like Protein A 3 4
  • NOTCH2NL 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 4
  • Notch 2 N-Terminal Like 2
  • NOTCH2NLA 5

External Ids for NOTCH2NLA Gene

Previous HGNC Symbols for NOTCH2NLA Gene

  • NOTCH2NL

Previous GeneCards Identifiers for NOTCH2NLA Gene

  • GC01M146148
  • GC01M146149
  • GC01M146172
  • GC01M146188

Summaries for NOTCH2NLA Gene

GeneCards Summary for NOTCH2NLA Gene

NOTCH2NLA (Notch 2 N-Terminal Like A) is a Protein Coding gene. Diseases associated with NOTCH2NLA include Microcephaly. Among its related pathways are Notch Signaling Pathway (sino). An important paralog of this gene is NOTCH2NLC.

UniProtKB/Swiss-Prot Summary for NOTCH2NLA Gene

  • Human-specific protein that promotes neural progenitor proliferation and evolutionary expansion of the brain neocortex by regulating the Notch signaling pathway (PubMed:29856954, PubMed:29856955, PubMed:29561261). Able to promote neural progenitor self-renewal, possibly by down-regulating neuronal differentiation genes, thereby delaying the differentiation of neuronal progenitors and leading to an overall final increase in neuronal production (PubMed:29856954). Acts by enhancing the Notch signaling pathway via two different mechanisms that probably work in parallel to reach the same effect (PubMed:29856954). Enhances Notch signaling pathway in a non-cell-autonomous manner via direct interaction with NOTCH2 (PubMed:29856954). Also promotes Notch signaling pathway in a cell-autonomous manner through inhibition of cis DLL1-NOTCH2 interactions, which promotes neuronal differentiation (By similarity).

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NOTCH2NLA Gene

Genomics for NOTCH2NLA Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for NOTCH2NLA Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NOTCH2NLA on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NOTCH2NLA

Genomic Locations for NOTCH2NLA Gene

Latest Assembly
chr1:146,146,203-146,229,032
(GRCh38/hg38)
Size:
82,830 bases
Orientation:
Minus strand

Previous Assembly
chr1:145,209,113-145,286,270
(GRCh37/hg19 by Entrez Gene)
Size:
77,158 bases
Orientation:
Plus strand

Genomic View for NOTCH2NLA Gene

Genes around NOTCH2NLA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NOTCH2NLA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NOTCH2NLA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NOTCH2NLA Gene

Proteins for NOTCH2NLA Gene

  • Protein details for NOTCH2NLA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z3S9-NT2NA_HUMAN
    Recommended name:
    Notch homolog 2 N-terminal-like protein A
    Protein Accession:
    Q7Z3S9
    Secondary Accessions:
    • Q5BKT8
    • Q5VTG9
    • Q5XG84
    • Q6P192
    • Q8NC23
    • Q8WUQ9
    • Q96FY1

    Protein attributes for NOTCH2NLA Gene

    Size:
    236 amino acids
    Molecular mass:
    25835 Da
    Quaternary structure:
    • Interacts with ELANE (PubMed:14673143). Interacts with NOTCH2 (PubMed:29856954). Interacts with DLL1; the interaction is direct (By similarity).
    SequenceCaution:
    • Sequence=AAH84572.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAC11381.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for NOTCH2NLA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NOTCH2NLA Gene

Post-translational modifications for NOTCH2NLA Gene

Other Protein References for NOTCH2NLA Gene

Protein products for research

  • Abcam proteins for NOTCH2NLA

No data available for DME Specific Peptides for NOTCH2NLA Gene

Domains & Families for NOTCH2NLA Gene

Gene Families for NOTCH2NLA Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for NOTCH2NLA Gene

InterPro:
Blocks:
  • Aspartic acid and asparagine hydroxylation site
ProtoNet:

Suggested Antigen Peptide Sequences for NOTCH2NLA Gene

GenScript: Design optimal peptide antigens:
  • Notch homolog 2 N-terminal-like protein (NT2NL_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q7Z3S9

UniProtKB/Swiss-Prot:

NT2NA_HUMAN :
  • Belongs to the NOTCH family.
Family:
  • Belongs to the NOTCH family.
genes like me logo Genes that share domains with NOTCH2NLA: view

Function for NOTCH2NLA Gene

Molecular function for NOTCH2NLA Gene

UniProtKB/Swiss-Prot Function:
Human-specific protein that promotes neural progenitor proliferation and evolutionary expansion of the brain neocortex by regulating the Notch signaling pathway (PubMed:29856954, PubMed:29856955, PubMed:29561261). Able to promote neural progenitor self-renewal, possibly by down-regulating neuronal differentiation genes, thereby delaying the differentiation of neuronal progenitors and leading to an overall final increase in neuronal production (PubMed:29856954). Acts by enhancing the Notch signaling pathway via two different mechanisms that probably work in parallel to reach the same effect (PubMed:29856954). Enhances Notch signaling pathway in a non-cell-autonomous manner via direct interaction with NOTCH2 (PubMed:29856954). Also promotes Notch signaling pathway in a cell-autonomous manner through inhibition of cis DLL1-NOTCH2 interactions, which promotes neuronal differentiation (By similarity).

Gene Ontology (GO) - Molecular Function for NOTCH2NLA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005112 Notch binding IBA,IPI 29856954
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 24722188
genes like me logo Genes that share ontologies with NOTCH2NLA: view
genes like me logo Genes that share phenotypes with NOTCH2NLA: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NOTCH2NLA

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NOTCH2NLA Gene

Localization for NOTCH2NLA Gene

Subcellular locations from UniProtKB/Swiss-Prot for NOTCH2NLA 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 NOTCH2NLA gene
Compartment Confidence
extracellular 3
plasma membrane 1
cytoskeleton 1
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for NOTCH2NLA 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 NOTCH2NLA: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NOTCH2NLA Gene

Pathways & Interactions for NOTCH2NLA Gene

PathCards logo

SuperPathways for NOTCH2NLA Gene

SuperPathway Contained pathways
1 Notch Signaling Pathway (sino)
genes like me logo Genes that share pathways with NOTCH2NLA: view

Pathways by source for NOTCH2NLA Gene

1 Sino Biological pathway for NOTCH2NLA Gene

Gene Ontology (GO) - Biological Process for NOTCH2NLA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007219 Notch signaling pathway IEA --
GO:0007275 multicellular organism development IEA --
GO:0021987 cerebral cortex development IDA 29561261
GO:0030154 cell differentiation IEA --
GO:0045747 positive regulation of Notch signaling pathway IDA 29856954
genes like me logo Genes that share ontologies with NOTCH2NLA: view

No data available for SIGNOR curated interactions for NOTCH2NLA Gene

Drugs & Compounds for NOTCH2NLA Gene

No Compound Related Data Available

Transcripts for NOTCH2NLA Gene

mRNA/cDNA for NOTCH2NLA Gene

2 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NOTCH2NLA

Alternative Splicing Database (ASD) splice patterns (SP) for NOTCH2NLA Gene

No ASD Table

Relevant External Links for NOTCH2NLA Gene

GeneLoc Exon Structure for
NOTCH2NLA

Expression for NOTCH2NLA Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NOTCH2NLA

SOURCE GeneReport for Unigene cluster for NOTCH2NLA Gene:

Hs.655156

mRNA Expression by UniProt/SwissProt for NOTCH2NLA Gene:

Q7Z3S9-NT2NA_HUMAN
Tissue specificity: Widely expressed with higher levels in leukocytes and lymph nodes (PubMed:14673143). Expressed in radial glia neural stem cells during cortical development (PubMed:29856954).

Evidence on tissue expression from TISSUES for NOTCH2NLA Gene

  • Nervous system(4.4)
  • Eye(4.3)
  • Pancreas(4.2)
  • Liver(4.2)
  • Skin(2.1)

Primer products for research

No data available for mRNA expression in normal human tissues , 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 NOTCH2NLA Gene

Orthologs for NOTCH2NLA Gene

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

Orthologs for NOTCH2NLA Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia NOTCH2NL 30
  • 95.72 (n)
Species where no ortholog for NOTCH2NLA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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 NOTCH2NLA Gene

ENSEMBL:
Gene Tree for NOTCH2NLA (if available)
TreeFam:
Gene Tree for NOTCH2NLA (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NOTCH2NLA: view image

Paralogs for NOTCH2NLA Gene

Paralogs for NOTCH2NLA Gene

genes like me logo Genes that share paralogs with NOTCH2NLA: view

Variants for NOTCH2NLA Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NOTCH2NLA Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs1053710 - p.Glu226Gln
rs10910779 - p.Ser67Pro
rs4649852 - p.Thr196Ser
rs8002 - p.Thr158Ile

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for NOTCH2NLA Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for NOTCH2NLA Gene

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

Variation tolerance for NOTCH2NLA 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 NOTCH2NLA Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NOTCH2NLA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NOTCH2NLA Gene

Disorders for NOTCH2NLA Gene

MalaCards: The human disease database

(1) MalaCards diseases for NOTCH2NLA Gene - From: COP and GCD

Disorder Aliases PubMed IDs
microcephaly
  • microcephalus
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NT2NA_HUMAN
  • Note=Defects in NOTCH2NLA may be a cause of chromosome 1q21.1 deletion/duplication syndrome (PubMed:29856954). Deletions of NOTCH2NL (NOTCH2NLA, NOTCH2NLB and/or NOTCH2NLC) are present in patients affected by microcephaly, whereas macrocephaly is observed in patients with NOTCH2NL duplications (PubMed:29856954). {ECO:0000269 PubMed:29856954}.

Additional Disease Information for NOTCH2NLA

genes like me logo Genes that share disorders with NOTCH2NLA: view

No data available for Genatlas for NOTCH2NLA Gene

Publications for NOTCH2NLA Gene

  1. Human-Specific NOTCH2NL Genes Expand Cortical Neurogenesis through Delta/Notch Regulation. (PMID: 29856955) Suzuki IK … Vanderhaeghen P (Cell 2018) 2 3 4
  2. Human-Specific NOTCH2NL Genes Affect Notch Signaling and Cortical Neurogenesis. (PMID: 29856954) Fiddes IT … Haussler D (Cell 2018) 2 3 4
  3. 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
  4. Evolution and cell-type specificity of human-specific genes preferentially expressed in progenitors of fetal neocortex. (PMID: 29561261) Florio M … Hiller M (eLife 2018) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for NOTCH2NLA Gene

Sources for NOTCH2NLA Gene