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

Gene ID: 100996763, updated on 3-Apr-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, Apr 2022]
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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Location:
1q21.2
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (148600285..148712538, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (146076085..146192627)
105.20220307 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
  • 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)

Genotypes

General gene information

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Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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_2023_10

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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