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    NOTCH2 notch receptor 2 [ Homo sapiens (human) ]

    Gene ID: 4853, updated on 2-Aug-2021

    Summary

    Official Symbol
    NOTCH2provided by HGNC
    Official Full Name
    notch receptor 2provided by HGNC
    Primary source
    HGNC:HGNC:7882
    See related
    Ensembl:ENSG00000134250 MIM:600275
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    hN2; AGS2; HJCYS
    Summary
    This gene encodes a member of the Notch family. Members of this Type 1 transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple, different domain types. Notch family members play a role in a variety of developmental processes by controlling cell fate decisions. The Notch signaling network is an evolutionarily conserved intercellular signaling pathway which regulates interactions between physically adjacent cells. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signaling pathway that plays a key role in development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remain to be determined. This protein is cleaved in the trans-Golgi network, and presented on the cell surface as a heterodimer. This protein functions as a receptor for membrane bound ligands, and may play a role in vascular, renal and hepatic development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
    Expression
    Ubiquitous expression in testis (RPKM 12.9), ovary (RPKM 12.0) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See NOTCH2 in Genome Data Viewer
    Location:
    1p12
    Exon count:
    34
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (119911553..120069662, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (120454176..120612276, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene notch 2 pseudogene 1 Neighboring gene ADAM metallopeptidase domain 30 Neighboring gene Sharpr-MPRA regulatory region 11377/13297 Neighboring gene negCOR silencer S9 Neighboring gene uncharacterized LOC101929178 Neighboring gene uncharacterized LOC105378939

    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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Alagille syndrome 2
    MedGen: C1857761 OMIM: 610205 GeneReviews: Alagille Syndrome
    Compare labs
    Hajdu-Cheney syndrome
    MedGen: C0917715 OMIM: 102500 GeneReviews: Not available
    Compare labs
    Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.
    GeneReviews: Not available

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2014-07-17)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2014-07-17)

    ClinGen Genome Curation Page

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat interacts with the EGF-like repeats 1-6 (amino acids 26-256) of Human Notch2, suggesting Tat might modulate Notch2 function, thus affecting various AIDS-associated pathologies PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables NF-kappaB binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables enzyme binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables signaling receptor activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in Notch signaling involved in heart development IC
    Inferred by Curator
    more info
    PubMed 
    involved_in Notch signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in Notch signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in animal organ morphogenesis IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in apoptotic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in atrial septum morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in atrioventricular node development NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in axon guidance IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in bone remodeling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cell fate determination TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cholangiocyte proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ciliary body morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in defense response to bacterium IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic limb morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glomerular capillary formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glomerular visceral epithelial cell development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heart looping IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hemopoiesis TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in hepatocyte proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in humoral immune response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in inflammatory response to antigenic stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intrahepatic bile duct development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in left/right axis specification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in marginal zone B cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in morphogenesis of an epithelial sheet IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in multicellular organism development NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in myeloid dendritic cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of apoptotic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of growth rate IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in nervous system development NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in placenta blood vessel development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of BMP signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of ERK1 and ERK2 cascade IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of Ras protein signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of keratinocyte proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of osteoclast differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in proximal tubule development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in pulmonary valve morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of actin cytoskeleton reorganization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of cell cycle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of osteoclast development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in stem cell population maintenance TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in wound healing IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in cell surface IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cilium IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    located_in integral component of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane HDA PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    part_of receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    neurogenic locus notch homolog protein 2
    Names
    Notch homolog 2
    notch 2

    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.

    Genomic

    1. NG_008163.1 RefSeqGene

      Range
      5001..163101
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001200001.2NP_001186930.1  neurogenic locus notch homolog protein 2 isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AF315356, BC071562, DB290699
      UniProtKB/Swiss-Prot
      Q04721
      UniProtKB/TrEMBL
      Q6IQ50
      Conserved Domains (2) summary
      PHA02887
      Location:629681
      PHA02887; EGF-like protein; Provisional
      cd00054
      Location:182218
      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_024408.4NP_077719.2  neurogenic locus notch homolog protein 2 isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_077719.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AF315356, AL133036, BC071562, DB290699
      Consensus CDS
      CCDS908.1
      UniProtKB/Swiss-Prot
      Q04721
      UniProtKB/TrEMBL
      Q6IQ50, Q9UFD5
      Related
      ENSP00000256646.2, ENST00000256646.7
      Conserved Domains (9) summary
      cd00054
      Location:182218
      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 ...
      cd00204
      Location:19382062
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam05387
      Location:22922421
      Chorion_3; Chorion family 3
      pfam00066
      Location:14231456
      Notch; LNR domain
      pfam06816
      Location:15401591
      NOD; NOTCH protein
      pfam07684
      Location:16201673
      NODP; NOTCH protein
      pfam11936
      Location:23812444
      DUF3454; Domain of unknown function (DUF3454)
      pfam12796
      Location:19482040
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:19431974
      ANK; ANK repeat [structural motif]

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      119911553..120069662 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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