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    NCR2 natural cytotoxicity triggering receptor 2 [ Homo sapiens (human) ]

    Gene ID: 9436, updated on 5-Mar-2024

    Summary

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    Official Symbol
    NCR2provided by HGNC
    Official Full Name
    natural cytotoxicity triggering receptor 2provided by HGNC
    Primary source
    HGNC:HGNC:6732
    See related
    Ensembl:ENSG00000096264 MIM:604531; AllianceGenome:HGNC:6732
    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
    LY95; CD336; NKP44; NK-p44; dJ149M18.1
    Summary
    Predicted to enable signaling receptor activity. Predicted to be involved in cellular defense response and signal transduction. Predicted to be located in plasma membrane. Predicted to be integral component of plasma membrane. Predicted to be active in cell surface. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    all
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    Genomic context

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    Location:
    6p21.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (41335608..41350889)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (41164903..41180184)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (41303346..41318627)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene NANOG hESC enhancer GRCh37_chr6:41272623-41273180 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:41273648-41274847 Neighboring gene RNA, U6 small nuclear 643, pseudogene Neighboring gene ribosomal protein L32 pseudogene 15 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17176 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:41286938-41287479 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24505 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17177 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:41337197-41337697 Neighboring gene MPRA-validated peak5801 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:41338977-41339930 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:41341839-41342790 Neighboring gene uncharacterized LOC100505711 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:41374298-41375106 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:41375914-41376721 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:41376722-41377528 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24506 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24507 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17178 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17179 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:41396875-41397374 Neighboring gene uncharacterized LOC107986538

    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. Human NKp44(+) Group 3 Innate Lymphoid Cells Associate with Tumor-Associated Tertiary Lymphoid Structures in Colorectal Cancer. Ikeda A, et al. Cancer Immunol Res, 2020 Jun. PMID 32229590
    2. NKp44-NKp44 Ligand Interactions in the Regulation of Natural Killer Cells and Other Innate Lymphoid Cells in Humans. Parodi M, et al. Front Immunol, 2019. PMID 31024551, Free PMC Article
    3. A novel ligand on astrocytes interacts with natural cytotoxicity receptor NKp44 regulating immune response mediated by NK cells. Bowen KE, et al. PLoS One, 2018. PMID 29447242, Free PMC Article
    4. Modulation the expression of natural killer cell activating receptor (NKp44) in the peripheral blood of diffuse large B-cell lymphoma patients and the correlation with clinic pathological features. Essa ES, et al. Clin Immunol, 2018 Mar. PMID 29247708
    5. Survival in acute myeloid leukemia is associated with NKp44 splice variants. Shemesh A, et al. Oncotarget, 2016 May 31. PMID 27102296, Free PMC Article

    See all (52) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Human NKp44(+) Group 3 Innate Lymphoid Cells Associate with Tumor-Associated Tertiary Lymphoid Structures in Colorectal Cancer.
      Title: Human NKp44(+) Group 3 Innate Lymphoid Cells Associate with Tumor-Associated Tertiary Lymphoid Structures in Colorectal Cancer.
    2. Low-dose IL-2 induces CD56(bright) NK regulation of T cells via NKp44 and NKp46.
      Title: Low-dose IL-2 induces CD56(bright) NK regulation of T cells via NKp44 and NKp46.
    3. The Natural Cytotoxicity Receptors in Health and Disease.
      Title: The Natural Cytotoxicity Receptors in Health and Disease.
    4. NKp44-NKp44 Ligand Interactions in the Regulation of Natural Killer Cells and Other Innate Lymphoid Cells in Humans.
      Title: NKp44-NKp44 Ligand Interactions in the Regulation of Natural Killer Cells and Other Innate Lymphoid Cells in Humans.
    5. We therefore identified the NKp44 binding site to PCNA and further developed an NKp44-peptide-based agent that can inhibit tumor growth through interfering with the function of intracellular PCNA in the tumor cell.
      Title: NKp44-Derived Peptide Binds Proliferating Cell Nuclear Antigen and Mediates Tumor Cell Death.
    6. Increased expression of p44 natural killer cell receptor (NKp44 ) was associated earlier stages of diffuse large B-cell lymphoma (DLBCL).
      Title: Modulation the expression of natural killer cell activating receptor (NKp44) in the peripheral blood of diffuse large B-cell lymphoma patients and the correlation with clinic pathological features.
    7. The regulation of T cell proliferation during HPIV3 infection is mediated via NK receptors NKp44 and NKp46 and involves the surface glycoprotein haemagglutinin-neuraminidase but not the fusion protein of the virus.
      Title: Haemagglutinin-neuraminidase from HPIV3 mediates human NK regulation of T cell proliferation via NKp44 and NKp46.
    8. Study identified a novel ligand for NKp44 on astrocytes. Expression of this novel ligand decreased with increasing HIV-3S peptide concentration and blocking this novel ligand decreased NK cell killing. NK cell killing of astrocytes was decreased when astrocytes were incubated with HIV-3S peptide. NKp44 has a protective effect on astrocytes from NK cell mediated killing during HIV infection and impact astrocyte's role.
      Title: A novel ligand on astrocytes interacts with natural cytotoxicity receptor NKp44 regulating immune response mediated by NK cells.
    9. NKp44 and NKp30 splice variants profiles are tissue/condition specific and demonstrate similarity between placenta and cancerous tissues.
      Title: NKp44 and NKp30 splice variant profiles in decidua and tumor tissues: a comparative viewpoint.
    10. NKp44-1 expression was significantly associated with poor survival of AML patients. Moreover, activation of PBMC from healthy controls showed co-dominant expression of NKp44-1 and NKp44-3, while primary NK clones show more diverse NKp44 splice variant profiles.
      Title: Survival in acute myeloid leukemia is associated with NKp44 splice variants.
    Submit: New GeneRIF Correction See all GeneRIFs (43)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Exploring the genetic basis of chronic periodontitis: a genome-wide association study.
    EBI GWAS Catalog
    Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.
    EBI GWAS Catalog
    GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease.
    EBI GWAS Catalog

    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables signaling receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables transmembrane signaling receptor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cellular defense response TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cell surface IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    natural cytotoxicity triggering receptor 2
    Names
    NK cell activating receptor (NKp44)
    NK cell-activating receptor
    lymphocyte antigen 95 (activating NK-receptor; NK-p44)
    lymphocyte antigen 95 homolog (activating NK-receptor; NK-p44)
    natural killer cell p44-related protein

    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_001199509.2 → NP_001186438.1  natural cytotoxicity triggering receptor 2 isoform 2 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has an additional in-frame segment and an additional exon which results in frame-shift, as compared to variant 1. The resulting isoform (2) has an additional internal segment and a shorter and distinct C-terminus, as compared to isoform 1.
      Source sequence(s)
      AL136967
      Consensus CDS
      CCDS56428.1
      UniProtKB/Swiss-Prot
      O95944
      Related
      ENSP00000362178.3, ENST00000373086.3
      Conserved Domains (2) summary
      cd05716
      Location:27 → 124
      Ig_pIgR; Immunoglobulin (Ig)-like domain in the polymeric Ig receptor (pIgR)
      smart00410
      Location:31 → 129
      IG_like; Immunoglobulin like

    2. NM_001199510.2 → NP_001186439.1  natural cytotoxicity triggering receptor 2 isoform 3 precursor

      See identical proteins and their annotated locations for NP_001186439.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) has an additional exon which results in frame-shift, as compared to variant 1. The resulting isoform (3) has a shorter and distinct C-terminus, as compared to isoform 1.
      Source sequence(s)
      AL136967
      Consensus CDS
      CCDS56429.1
      UniProtKB/Swiss-Prot
      O95944
      Related
      ENSP00000362175.4, ENST00000373083.8
      Conserved Domains (2) summary
      cd05716
      Location:27 → 124
      Ig_pIgR; Immunoglobulin (Ig)-like domain in the polymeric Ig receptor (pIgR)
      smart00410
      Location:31 → 129
      IG_like; Immunoglobulin like

    3. NM_004828.4 → NP_004819.2  natural cytotoxicity triggering receptor 2 isoform 1 precursor

      See identical proteins and their annotated locations for NP_004819.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AL136967
      Consensus CDS
      CCDS4855.1
      UniProtKB/Swiss-Prot
      O95944, Q9H562, Q9H563, Q9H564, Q9UMT1, Q9UMT2
      Related
      ENSP00000362181.5, ENST00000373089.10
      Conserved Domains (3) summary
      cd05716
      Location:27 → 124
      Ig_pIgR; Immunoglobulin (Ig)-like domain in the polymeric Ig receptor (pIgR)
      PHA03282
      Location:93 → 175
      PHA03282; envelope glycoprotein E; Provisional
      smart00410
      Location:31 → 129
      IG_like; Immunoglobulin like

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      41335608..41350889
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017011500.2 → XP_016866989.1  natural cytotoxicity triggering receptor 2 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      41164903..41180184
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054356827.1 → XP_054212802.1  natural cytotoxicity triggering receptor 2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95944.2 GenPept UniProtKB/Swiss-Prot:O95944

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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