Aliases for NOTCH2NLC Gene

Aliases for NOTCH2NLC Gene

  • Notch 2 N-Terminal Like C 2 3 5
  • Notch Homolog 2 N-Terminal-Like Protein C 3 4
  • Notch Homolog 2 N-Terminal-Like Protein A 3
  • Notch Homolog 2 N-Terminal-Like Protein 3
  • AC242843.1 5
  • NOTCH2NLA 3
  • NOTCH2NL 3
  • N2N 3

External Ids for NOTCH2NLC Gene

Summaries for NOTCH2NLC Gene

GeneCards Summary for NOTCH2NLC Gene

NOTCH2NLC (Notch 2 N-Terminal Like C) is a Protein Coding gene. An important paralog of this gene is NOTCH2NLA.

UniProtKB/Swiss-Prot Summary for NOTCH2NLC 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).

Additional gene information for NOTCH2NLC Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NOTCH2NLC Gene

Genomics for NOTCH2NLC Gene

GeneHancer (GH) Regulatory Elements for NOTCH2NLC Gene

Promoters and enhancers for NOTCH2NLC 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
GH01J149390 Promoter 0.3 Ensembl 750.6 +1.8 1808 6.4 ENSG00000286185 LOC105371403 NOTCH2NLC piR-40331-005
GH01J149423 Promoter 0.3 Ensembl 0.3 +32.5 32508 0.2 piR-46583-005 piR-40331-005 ENSG00000286185 NOTCH2NLC
GH01J149424 Promoter 0.3 Ensembl 0.3 +33.1 33108 0.6 piR-46583-005 piR-40331-005 ENSG00000286185 NOTCH2NLC
GH01J149428 Promoter 0.3 Ensembl 0.3 +38.5 38508 0.2 piR-46583-005 piR-40331-005 ENSG00000286185 NOTCH2NLC
GH01J149463 Enhancer 0.2 Ensembl 0.2 +77.7 77660 10.1 piR-37475-005 piR-38380-005 piR-47635-005 NBPF19 piR-39259-004 piR-49296-005 piR-47741-005 piR-51314-004 piR-55736-004 ENSG00000286185
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NOTCH2NLC on UCSC Golden Path with GeneCards custom track

Genomic Locations for NOTCH2NLC Gene

Genomic Locations for NOTCH2NLC Gene
chr1:149,390,593-149,468,030
(GRCh38/hg38)
Size:
77,438 bases
Orientation:
Plus strand

Genomic View for NOTCH2NLC Gene

Genes around NOTCH2NLC on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NOTCH2NLC Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NOTCH2NLC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NOTCH2NLC Gene

Proteins for NOTCH2NLC Gene

  • Protein details for NOTCH2NLC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P0DPK4-NT2NC_HUMAN
    Recommended name:
    Notch homolog 2 N-terminal-like protein C
    Protein Accession:
    P0DPK4

    Protein attributes for NOTCH2NLC Gene

    Size:
    236 amino acids
    Molecular mass:
    25835 Da
    Quaternary structure:
    • Interacts with NOTCH2 (PubMed:29856954). Interacts with DLL1; the interaction is direct (By similarity).
    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.

neXtProt entry for NOTCH2NLC Gene

Post-translational modifications for NOTCH2NLC Gene

  • Glycosylation at Asn7 and Asn116

Other Protein References for NOTCH2NLC Gene

No data available for DME Specific Peptides for NOTCH2NLC Gene

Domains & Families for NOTCH2NLC Gene

Protein Domains for NOTCH2NLC Gene

Graphical View of Domain Structure for InterPro Entry

P0DPK4

UniProtKB/Swiss-Prot:

NT2NC_HUMAN :
  • Belongs to the NOTCH family.
Family:
  • Belongs to the NOTCH family.
genes like me logo Genes that share domains with NOTCH2NLC: view

No data available for Gene Families and Suggested Antigen Peptide Sequences for NOTCH2NLC Gene

Function for NOTCH2NLC Gene

Molecular function for NOTCH2NLC 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 NOTCH2NLC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 29856954
genes like me logo Genes that share ontologies with NOTCH2NLC: 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 NOTCH2NLC Gene

Localization for NOTCH2NLC Gene

Subcellular locations from UniProtKB/Swiss-Prot for NOTCH2NLC Gene

Secreted.

Gene Ontology (GO) - Cellular Components for NOTCH2NLC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA,IDA 29856954
genes like me logo Genes that share ontologies with NOTCH2NLC: view

No data available for Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for NOTCH2NLC Gene

Pathways & Interactions for NOTCH2NLC Gene

PathCards logo

SuperPathways for NOTCH2NLC Gene

No Data Available

Interacting Proteins for NOTCH2NLC Gene

Gene Ontology (GO) - Biological Process for NOTCH2NLC 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 NOTCH2NLC: view

No data available for Pathways by source and SIGNOR curated interactions for NOTCH2NLC Gene

Drugs & Compounds for NOTCH2NLC Gene

No Compound Related Data Available

Transcripts for NOTCH2NLC Gene

mRNA/cDNA for NOTCH2NLC Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for NOTCH2NLC Gene

No ASD Table

Relevant External Links for NOTCH2NLC Gene

GeneLoc Exon Structure for
NOTCH2NLC
ECgene alternative splicing isoforms for
NOTCH2NLC

Expression for NOTCH2NLC Gene

mRNA Expression by UniProt/SwissProt for NOTCH2NLC Gene:

P0DPK4-NT2NC_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 NOTCH2NLC Gene

Orthologs for NOTCH2NLC Gene

Evolution for NOTCH2NLC Gene

ENSEMBL:
Gene Tree for NOTCH2NLC (if available)
TreeFam:
Gene Tree for NOTCH2NLC (if available)

No data available for Orthologs for NOTCH2NLC Gene

Paralogs for NOTCH2NLC Gene

Paralogs for NOTCH2NLC Gene

genes like me logo Genes that share paralogs with NOTCH2NLC: view

Variants for NOTCH2NLC Gene

Sequence variations from dbSNP and Humsavar for NOTCH2NLC Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1156236466 -- 149,422,059(+) C/G intron_variant
rs1156256488 -- 149,464,523(+) A/G 3_prime_UTR_variant
rs1156283396 -- 149,450,802(+) G/A intron_variant
rs1156323971 -- 149,392,846(+) C/T intron_variant
rs1156361458 -- 149,435,522(+) G/C intron_variant

Additional Variant Information for NOTCH2NLC Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NOTCH2NLC

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for NOTCH2NLC Gene

Disorders for NOTCH2NLC Gene

UniProtKB/Swiss-Prot

NT2NC_HUMAN
  • Note=Defects in NOTCH2NLC 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 NOTCH2NLC

No disorders were found for NOTCH2NLC Gene.

No data available for MalaCards and Genatlas for NOTCH2NLC Gene

Publications for NOTCH2NLC 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 NOTCH2NLC Gene

Sources for NOTCH2NLC Gene