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

    Gene ID: 9436, updated on 28-Oct-2024

    Summary

    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 active in cell surface. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See NCR2 in Genome Data Viewer
    Location:
    6p21.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (41335608..41350889)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (41164903..41180184)
    RS_2024_09 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    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_001199509.2NP_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:27124
      Ig_pIgR; Immunoglobulin (Ig)-like domain in the polymeric Ig receptor (pIgR)
      smart00410
      Location:31129
      IG_like; Immunoglobulin like
    2. NM_001199510.2NP_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:27124
      Ig_pIgR; Immunoglobulin (Ig)-like domain in the polymeric Ig receptor (pIgR)
      smart00410
      Location:31129
      IG_like; Immunoglobulin like
    3. NM_004828.4NP_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:27124
      Ig_pIgR; Immunoglobulin (Ig)-like domain in the polymeric Ig receptor (pIgR)
      PHA03282
      Location:93175
      PHA03282; envelope glycoprotein E; Provisional
      smart00410
      Location:31129
      IG_like; Immunoglobulin like

    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_000006.12 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_017011500.2XP_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_054356827.1XP_054212802.1  natural cytotoxicity triggering receptor 2 isoform X1