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    NOTCH2NLB notch 2 N-terminal like B [ Homo sapiens (human) ]

    Gene ID: 100996763, updated on 14-Nov-2024

    Summary

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    Official Symbol
    NOTCH2NLBprovided by HGNC
    Official Full Name
    notch 2 N-terminal like Bprovided by HGNC
    Primary source
    HGNC:HGNC:53923
    See related
    Ensembl:ENSG00000286019 MIM:618024; AllianceGenome:HGNC:53923
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    N2N; NOTCH2NL; NOTCH2NLA
    Summary
    Enables Notch binding activity. Involved in cerebral cortex development and positive regulation of Notch signaling pathway. Located in extracellular region. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 6.7), skin (RPKM 4.9) and 25 other tissues See more
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    Genomic context

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    See NOTCH2NLB in Genome Data Viewer
    Location:
    1q21.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (148600285..148712538, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (146076085..146192627)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 (PATCHES) NW_003871055.3 (5415698..5527947, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1287 Neighboring gene tRNA-Asn (anticodon GTT) 2-1 Neighboring gene NBPF member 14 Neighboring gene NANOG hESC enhancer GRCh37_chr1:145241463-145242092 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1650 Neighboring gene uncharacterized LOC105371223 Neighboring gene uncharacterized LOC105371222 Neighboring gene RNA, U6 small nuclear 1171, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Evolution of Human Brain Size-Associated NOTCH2NL Genes Proceeds toward Reduced Protein Levels. Lodewijk GA, et al. Mol Biol Evol, 2020 Sep 1. PMID 32330268, Free PMC Article
    2. Evolution and cell-type specificity of human-specific genes preferentially expressed in progenitors of fetal neocortex. Florio M, et al. Elife, 2018 Mar 21. PMID 29561261, Free PMC Article
    3. Human-Specific NOTCH2NL Genes Expand Cortical Neurogenesis through Delta/Notch Regulation. Suzuki IK, et al. Cell, 2018 May 31. PMID 29856955, Free PMC Article
    4. Human-Specific NOTCH2NL Genes Affect Notch Signaling and Cortical Neurogenesis. Fiddes IT, et al. Cell, 2018 May 31. PMID 29856954, Free PMC Article
    5. Transcriptional fates of human-specific segmental duplications in brain. Dougherty ML, et al. Genome Res, 2018 Oct. PMID 30228200, Free PMC Article

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Evolution of Human Brain Size-Associated NOTCH2NL Genes Proceeds toward Reduced Protein Levels.
      Title: Evolution of Human Brain Size-Associated NOTCH2NL Genes Proceeds toward Reduced Protein Levels.
    2. NOTCH2NL can expand human cortical progenitors and increase their neuronal output at the clonal level through cell-autonomous activation of the Notch pathway.
      Title: Human-Specific NOTCH2NL Genes Expand Cortical Neurogenesis through Delta/Notch Regulation.
    3. the emergence of human-specific NOTCH2NL genes may have contributed to the rapid evolution of the larger human neocortex, accompanied by loss of genomic stability at the 1q21.1 locus and resulting recurrent neurodevelopmental disorders
      Title: Human-Specific NOTCH2NL Genes Affect Notch Signaling and Cortical Neurogenesis.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    General gene information

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    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables Notch binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables Notch binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in Notch signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cerebral cortex development IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of Notch signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in extracellular region IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    notch homolog 2 N-terminal-like protein B
    Names
    Notch homolog 2 N-terminal-like protein A

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001364007.2 → NP_001350936.1  notch homolog 2 N-terminal-like protein B isoform 1 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AC239811
      UniProtKB/Swiss-Prot
      P0DPK3
      UniProtKB/TrEMBL
      A0A494C1U9
      Conserved Domains (1) summary
      cd00054
      Location:182 → 218
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

    2. NM_001364008.2 → NP_001350937.1  notch homolog 2 N-terminal-like protein B isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site at a 5' exon compared to variant 1. This difference is predicted to result in the use of a downstream start codon and an isoform (2) with a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC239811
      Consensus CDS
      CCDS86012.1
      UniProtKB/TrEMBL
      B4DF04
      Related
      ENSP00000472124.1, ENST00000593495.4
      Conserved Domains (1) summary
      cd00054
      Location:156 → 192
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

    3. NM_001395234.1 → NP_001382163.1  notch homolog 2 N-terminal-like protein B isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC239811, AC245389
      Conserved Domains (1) summary
      cd00054
      Location:208 → 244
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      148600285..148712538 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047420744.1 → XP_047276700.1  notch homolog 2 N-terminal-like protein B isoform X5

    2. XM_047420616.1 → XP_047276572.1  notch homolog 2 N-terminal-like protein B isoform X3

    3. XM_047420582.1 → XP_047276538.1  notch homolog 2 N-terminal-like protein B isoform X1

    4. XM_047420606.1 → XP_047276562.1  notch homolog 2 N-terminal-like protein B isoform X2

    5. XM_047420702.1 → XP_047276658.1  notch homolog 2 N-terminal-like protein B isoform X4

    6. XM_047420756.1 → XP_047276712.1  notch homolog 2 N-terminal-like protein B isoform X6

    7. XM_047420672.1 → XP_047276628.1  notch homolog 2 N-terminal-like protein B isoform X4

    8. XM_047420717.1 → XP_047276673.1  notch homolog 2 N-terminal-like protein B isoform X4

    9. XM_047420642.1 → XP_047276598.1  notch homolog 2 N-terminal-like protein B isoform X4

    10. XM_047420688.1 → XP_047276644.1  notch homolog 2 N-terminal-like protein B isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      146076085..146192627
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333718.1 → XP_054189693.1  notch homolog 2 N-terminal-like protein B isoform X11

    2. XM_054333709.1 → XP_054189684.1  notch homolog 2 N-terminal-like protein B isoform X9

    3. XM_054333708.1 → XP_054189683.1  notch homolog 2 N-terminal-like protein B isoform X8

    4. XM_054333716.1 → XP_054189691.1  notch homolog 2 N-terminal-like protein B isoform X4

    5. XM_054333707.1 → XP_054189682.1  notch homolog 2 N-terminal-like protein B isoform X7

    6. XM_054333710.1 → XP_054189685.1  notch homolog 2 N-terminal-like protein B isoform X10

    7. XM_054333719.1 → XP_054189694.1  notch homolog 2 N-terminal-like protein B isoform X12

    8. XM_054333720.1 → XP_054189695.1  notch homolog 2 N-terminal-like protein B isoform X12

    9. XM_054333721.1 → XP_054189696.1  notch homolog 2 N-terminal-like protein B isoform X12

    10. XM_054333722.1 → XP_054189697.1  notch homolog 2 N-terminal-like protein B isoform X6

    11. XM_054333711.1 → XP_054189686.1  notch homolog 2 N-terminal-like protein B isoform X3

    12. XM_054333714.1 → XP_054189689.1  notch homolog 2 N-terminal-like protein B isoform X4

    13. XM_054333713.1 → XP_054189688.1  notch homolog 2 N-terminal-like protein B isoform X4

    14. XM_054333712.1 → XP_054189687.1  notch homolog 2 N-terminal-like protein B isoform X4

    15. XM_054333717.1 → XP_054189692.1  notch homolog 2 N-terminal-like protein B isoform X4

    16. XM_054333715.1 → XP_054189690.1  notch homolog 2 N-terminal-like protein B isoform X4

    RNA

    1. XR_008485861.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P0DPK3.1 GenPept UniProtKB/Swiss-Prot:P0DPK3

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