Aliases for NOTCH2NLB Gene

Aliases for NOTCH2NLB Gene

  • Notch 2 N-Terminal Like B 2 3 5
  • Notch Homolog 2 N-Terminal-Like Protein B 3 4
  • Notch Homolog 2 N-Terminal-Like Protein A 3
  • Notch Homolog 2 N-Terminal-Like Protein 3
  • AC239811.1 5
  • NOTCH2NLA 3
  • NOTCH2NL 3
  • N2N 3

External Ids for NOTCH2NLB Gene

Previous GeneCards Identifiers for NOTCH2NLB Gene

  • GC01M148532

Summaries for NOTCH2NLB Gene

GeneCards Summary for NOTCH2NLB Gene

NOTCH2NLB (Notch 2 N-Terminal Like B) is a Protein Coding gene. An important paralog of this gene is NOTCH2NLA.

UniProtKB/Swiss-Prot Summary for NOTCH2NLB 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, PubMed:29856955). Acts by enhancing the Notch signaling pathway via two different mechanisms that probably work in parallel to reach the same effect (PubMed:29856954, PubMed:29856955). 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 (PubMed:29856955).

Additional gene information for NOTCH2NLB Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NOTCH2NLB Gene

Genomics for NOTCH2NLB Gene

GeneHancer (GH) Regulatory Elements for NOTCH2NLB Gene

Promoters and enhancers for NOTCH2NLB 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
GH01J148709 Promoter 0.3 EPDnew 750.6 0.0 -34 0.1 NOTCH2NLB NBPF14 HSALNG0006676-003
GH01J148950 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 12.2 -244.4 -244380 13.5 PPP1R10 FOXK2 SIN3A CTCF GATA3 ZBTB6 LCORL FOXA1 RBPJ POLR2A PDE4DIP SF3B4 ENSG00000225871 H2AC21 ENSG00000220323 H2AC20 NOTCH2NLB piR-30644 lnc-NBPF9-8 piR-40317-002
GH01J148715 Enhancer 0.5 dbSUPER 0.6 -3.6 -3568 4.2 ZBTB33 HES1 ZFX SCRT2 SCRT1 NOTCH2NLB HSALNG0006676-003
GH01J148719 Enhancer 0.7 Ensembl dbSUPER 0.4 -11.3 -11281 4 PRDM10 ZSCAN4 SCRT2 SCRT1 ZFHX2 WT1 ZNF664 KLF1 HSALNG0006676-003 NOTCH2NLB
GH01J148728 Enhancer 0.7 ENCODE dbSUPER 0.4 -16.8 -16808 0.2 RELA L3MBTL2 IKZF2 ZNF692 ZXDB IKZF1 PRDM4 ZFP69B ZNF513 ZNF217 HSALNG0006676-003 NOTCH2NLB
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NOTCH2NLB on UCSC Golden Path with GeneCards custom track

Genomic Locations for NOTCH2NLB Gene

Genomic Locations for NOTCH2NLB Gene
chr1:148,595,857-148,712,520
(GRCh38/hg38)
Size:
116,664 bases
Orientation:
Minus strand

Genomic View for NOTCH2NLB Gene

Genes around NOTCH2NLB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NOTCH2NLB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NOTCH2NLB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NOTCH2NLB Gene

Proteins for NOTCH2NLB Gene

  • Protein details for NOTCH2NLB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P0DPK3-NT2NB_HUMAN
    Recommended name:
    Notch homolog 2 N-terminal-like protein B
    Protein Accession:
    P0DPK3

    Protein attributes for NOTCH2NLB Gene

    Size:
    275 amino acids
    Molecular mass:
    30097 Da
    Quaternary structure:
    • Interacts with NOTCH2 (PubMed:29856954). Interacts with DLL1; the interaction is direct (PubMed:29856955).
    Miscellaneous:
    • NOTCH2NLA, NOTCH2NLB and NOTCH2NLC paralogs arose between 4 and 3 million years ago, after the separation of hominids from the chimpanzee and during the early stages of the expansion of the human cortex.

    Alternative splice isoforms for NOTCH2NLB Gene

neXtProt entry for NOTCH2NLB Gene

Post-translational modifications for NOTCH2NLB Gene

  • Glycosylation at Asn46 and Asn155

Other Protein References for NOTCH2NLB Gene

No data available for DME Specific Peptides for NOTCH2NLB Gene

Domains & Families for NOTCH2NLB Gene

Protein Domains for NOTCH2NLB Gene

Graphical View of Domain Structure for InterPro Entry

P0DPK3

UniProtKB/Swiss-Prot:

NT2NB_HUMAN :
  • Belongs to the NOTCH family.
Family:
  • Belongs to the NOTCH family.
genes like me logo Genes that share domains with NOTCH2NLB: view

No data available for Gene Families and Suggested Antigen Peptide Sequences for NOTCH2NLB Gene

Function for NOTCH2NLB Gene

Molecular function for NOTCH2NLB 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, PubMed:29856955). Acts by enhancing the Notch signaling pathway via two different mechanisms that probably work in parallel to reach the same effect (PubMed:29856954, PubMed:29856955). 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 (PubMed:29856955).

Gene Ontology (GO) - Molecular Function for NOTCH2NLB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005112 Notch binding IPI 29856954
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 29856955
genes like me logo Genes that share ontologies with NOTCH2NLB: view

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for NOTCH2NLB Gene

Localization for NOTCH2NLB Gene

Subcellular locations from UniProtKB/Swiss-Prot for NOTCH2NLB Gene

Secreted.

Gene Ontology (GO) - Cellular Components for NOTCH2NLB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IDA 29856954
genes like me logo Genes that share ontologies with NOTCH2NLB: view

No data available for Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for NOTCH2NLB Gene

Pathways & Interactions for NOTCH2NLB Gene

PathCards logo

SuperPathways for NOTCH2NLB Gene

No Data Available

Interacting Proteins for NOTCH2NLB Gene

Gene Ontology (GO) - Biological Process for NOTCH2NLB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007219 Notch signaling pathway IEA --
GO:0021987 cerebral cortex development IDA 29561261
GO:0045747 positive regulation of Notch signaling pathway IDA 29856954
genes like me logo Genes that share ontologies with NOTCH2NLB: view

No data available for Pathways by source and SIGNOR curated interactions for NOTCH2NLB Gene

Drugs & Compounds for NOTCH2NLB Gene

No Compound Related Data Available

Transcripts for NOTCH2NLB Gene

mRNA/cDNA for NOTCH2NLB Gene

(2) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(1) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for NOTCH2NLB Gene

No ASD Table

Relevant External Links for NOTCH2NLB Gene

GeneLoc Exon Structure for
NOTCH2NLB
ECgene alternative splicing isoforms for
NOTCH2NLB

Expression for NOTCH2NLB Gene

mRNA Expression by UniProt/SwissProt for NOTCH2NLB Gene:

P0DPK3-NT2NB_HUMAN
Tissue specificity: Expressed in radial glia neural stem cells during cortical development.

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 , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for NOTCH2NLB Gene

Orthologs for NOTCH2NLB Gene

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

Orthologs for NOTCH2NLB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NOTCH2NL 32
  • 95.57 (n)
Species where no ortholog for NOTCH2NLB 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 NOTCH2NLB Gene

ENSEMBL:
Gene Tree for NOTCH2NLB (if available)
TreeFam:
Gene Tree for NOTCH2NLB (if available)

Paralogs for NOTCH2NLB Gene

Paralogs for NOTCH2NLB Gene

genes like me logo Genes that share paralogs with NOTCH2NLB: view

Variants for NOTCH2NLB Gene

Sequence variations from dbSNP and Humsavar for NOTCH2NLB Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs111999361 -- 148,708,824(-) T/A genic_upstream_transcript_variant, intron_variant
rs112316907 -- 148,707,791(-) A/G genic_upstream_transcript_variant, intron_variant
rs112377837 -- 148,710,513(-) G/C genic_upstream_transcript_variant, intron_variant
rs112404075 -- 148,710,641(-) C/T genic_upstream_transcript_variant, intron_variant
rs112453597 -- 148,706,511(-) A/T genic_upstream_transcript_variant, intron_variant

Additional Variant Information for NOTCH2NLB Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NOTCH2NLB

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for NOTCH2NLB Gene

Disorders for NOTCH2NLB Gene

UniProtKB/Swiss-Prot

NT2NB_HUMAN
  • Note=Defects in NOTCH2NLB 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 NOTCH2NLB

No disorders were found for NOTCH2NLB Gene.

No data available for MalaCards and Genatlas for NOTCH2NLB Gene

Publications for NOTCH2NLB Gene

  1. Human-Specific NOTCH2NL Genes Expand Cortical Neurogenesis through Delta/Notch Regulation. (PMID: 29856955) Suzuki IK … Vanderhaeghen P (Cell 2018) 2 3 4 56
  2. Human-Specific NOTCH2NL Genes Affect Notch Signaling and Cortical Neurogenesis. (PMID: 29856954) Fiddes IT … Haussler D (Cell 2018) 2 3 4 56
  3. 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 56
  4. Transcriptional fates of human-specific segmental duplications in brain. (PMID: 30228200) Dougherty ML … Eichler EE (Genome research 2018) 3 56
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 4 56

Products for NOTCH2NLB Gene

Sources for NOTCH2NLB Gene