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

Gene ID: 9436, updated on 7-Dec-2018

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
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
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See NCR2 in Genome Data Viewer
Location:
6p21.1
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (41335620..41350887)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (41303528..41318625)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 643, pseudogene Neighboring gene ribosomal protein L32 pseudogene 15 Neighboring gene uncharacterized LOC100505711 Neighboring gene uncharacterized LOC107986538

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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Adaptive Immune System, organism-specific biosystem (from REACTOME)
    Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
  • DAP12 interactions, organism-specific biosystem (from REACTOME)
    DAP12 interactions, organism-specific biosystemDNAX activation protein of 12kDa (DAP12) is an immunoreceptor tyrosine-based activation motif (ITAM)-bearing adapter molecule that transduces activating signals in natural killer (NK) and myeloid cel...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell, organism-specific biosystem (from REACTOME)
    Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell, organism-specific biosystemA number of receptors and cell adhesion molecules play a key role in modifying the response of cells of lymphoid origin (such as B-, T- and NK cells) to self and tumor antigens, as well as to pathoge...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Natural killer cell mediated cytotoxicity, organism-specific biosystem (from KEGG)
    Natural killer cell mediated cytotoxicity, organism-specific biosystemNatural killer (NK) cells are lymphocytes of the innate immune system that are involved in early defenses against both allogeneic (nonself) cells and autologous cells undergoing various forms of stre...
  • Natural killer cell mediated cytotoxicity, conserved biosystem (from KEGG)
    Natural killer cell mediated cytotoxicity, conserved biosystemNatural killer (NK) cells are lymphocytes of the innate immune system that are involved in early defenses against both allogeneic (nonself) cells and autologous cells undergoing various forms of stre...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transmembrane signaling receptor activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cellular defense response TAS
Traceable Author Statement
more info
PubMed 
innate immune response TAS
Traceable Author Statement
more info
 
regulation of immune response TAS
Traceable Author Statement
more info
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
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)

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_001199509.1NP_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_001199510.1NP_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
    Related
    ENSP00000362181.5, ENST00000373089.9
    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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

    Range
    41335620..41350887
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

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