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    NOTCH2NLA notch 2 N-terminal like A [ Homo sapiens (human) ]

    Gene ID: 388677, updated on 17-Jun-2024

    Summary

    Official Symbol
    NOTCH2NLAprovided by HGNC
    Official Full Name
    notch 2 N-terminal like Aprovided by HGNC
    Primary source
    HGNC:HGNC:31862
    See related
    Ensembl:ENSG00000264343 MIM:618023; AllianceGenome:HGNC:31862
    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
    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 12.1), skin (RPKM 6.6) and 25 other tissues See more
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    Genomic context

    See NOTCH2NLA in Genome Data Viewer
    Location:
    1q21.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (146148865..146229021, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (145265708..145345897, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (145209124..145289312)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr1:145382090-145382818 and GRCh37_chr1:145382819-145383547 Neighboring gene long intergenic non-protein coding RNA 1719 Neighboring gene NBPF member 10 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:145293725-145294226 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:145290760-145290947 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:145281548-145282067 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:145260143-145260725 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:145254930-145255430 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:145255431-145255931 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:145245299-145245491 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:145239247-145239446 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:145209507-145210007 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:145209006-145209506 Neighboring gene uncharacterized LOC105371254 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:145185134-145185664 Neighboring gene uncharacterized LOC124904401 Neighboring gene uncharacterized LOC124904408

    Genomic regions, transcripts, and products

    Expression

    • 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

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of notch 2 N-terminal like (NOTCH2NL) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: NBPF10

    Clone Names

    • FLJ35032, FLJ55807

    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 cell differentiation 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 cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001364006.2NP_001350935.1  notch homolog 2 N-terminal-like protein A 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 an upstream start codon and an isoform (2) with a longer N-terminus compared to isoform 1.
      Source sequence(s)
      AC239799
      UniProtKB/TrEMBL
      B4DF04
      Conserved Domains (1) summary
      cd00054
      Location:156192
      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_001395231.1NP_001382160.1  notch homolog 2 N-terminal-like protein A isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC239799
      UniProtKB/TrEMBL
      A0A8I5KY86
      Conserved Domains (1) summary
      cd00054
      Location:156192
      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_001395232.1NP_001382161.1  notch homolog 2 N-terminal-like protein A isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC239799
      Consensus CDS
      CCDS91035.1
      UniProtKB/TrEMBL
      A0A8I5KR58, A0A8I5KY86
      Related
      ENSP00000508786.1, ENST00000688759.1
      Conserved Domains (1) summary
      cd00054
      Location:143179
      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 ...
    4. NM_203458.6NP_982283.2  notch homolog 2 N-terminal-like protein A isoform 1

      See identical proteins and their annotated locations for NP_982283.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AC239799
      Consensus CDS
      CCDS72880.1
      UniProtKB/Swiss-Prot
      Q5BKT8, Q5VTG9, Q5XG84, Q6P192, Q7Z3S9, Q8NC23, Q8WUQ9, Q96FY1
      UniProtKB/TrEMBL
      B4DF04
      Related
      ENSP00000354929.6, ENST00000362074.8
      Conserved Domains (1) summary
      cd00054
      Location:143179
      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
      146148865..146229021 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      145265708..145345897 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)