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CD244 Gene

protein-coding   GIFtS: 59
GCID: GC01M160799

CD244 Molecule, Natural Killer Cell Receptor 2B4

(Previous names: natural killer cell receptor 2B4, CD244 natural killer cell...)
Pneumococci & Pneumococcal Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
CD244 Molecule, Natural Killer Cell Receptor 2B41 2     NK Cell Activation-Inducing Ligand2 3
NAIL2 3 5     NK Cell Type I Receptor Protein 2B42 3
NKR2B42 3 5     SLAM Family Member 42 3
SLAMF42 3 5     CD244 Natural Killer Cell Receptor 2B41
Natural Killer Cell Receptor 2B41 2     Nmrk2
Signaling Lymphocytic Activation Molecule 42 3     NK Cell Activation Inducing Ligand NAIL2
2B42 3     CD244 Antigen3
h2B42 3     

External Ids:    HGNC: 181711   Entrez Gene: 517442   Ensembl: ENSG000001222237   OMIM: 6055545   UniProtKB: Q9BZW83   

Export aliases for CD244 gene to outside databases

Previous GC identifers: GC01M158591 GC01M156532 GC01M157577 GC01M158016 GC01M157613 GC01M159066 GC01M132156


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CD244 Gene:
This gene encodes a cell surface receptor expressed on natural killer (NK) cells (and some T cells) that mediate
non-major histocompatibility complex (MHC) restricted killing. The interaction between NK-cell and target cells
via this receptor is thought to modulate NK-cell cytolytic activity. Alternatively spliced transcript variants
encoding different isoforms have been found for this gene.(provided by RefSeq, Oct 2009)

GeneCards Summary for CD244 Gene:
CD244 (CD244 molecule, natural killer cell receptor 2B4) is a protein-coding gene. Diseases associated with CD244 include rheumatoid arthritis, and human t-cell leukemia virus type 1. GO annotations related to this gene include receptor activity.

UniProtKB/Swiss-Prot: CD244_HUMAN, Q9BZW8
Function: Modulate other receptor-ligand interactions to enhance leukocyte activation. CD244/2B4 is the only
heterophilic receptor of SLAM family

Gene Wiki entry for CD244 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NC_018912.2  NT_004487.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the CD244 gene promoter:
         GR   ISGF-3   AML1a   GR-beta   NCX/Ncx   Tal-1beta   YY1   Evi-1   GR-alpha   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCD244 promoter sequence
   Search Chromatin IP Primers for CD244

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CD244


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q23.3   Ensembl cytogenetic band:  1q23.3   HGNC cytogenetic band: 1q23.1

CD244 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CD244 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M160799:  view genomic region     (about GC identifiers)

Start:
160,799,950 bp from pter      End:
160,832,692 bp from pter
Size:
32,743 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CD244_HUMAN, Q9BZW8 (See protein sequence)
Recommended Name: Natural killer cell receptor 2B4 precursor  
Size: 370 amino acids; 41616 Da
Subunit: Interacts with CD48. Following phosphorylation, it is able to recruit PTPN11/SHP-2 and SH2D1A/SAP.
Binding of SH2D1A/SAP to CD244 prevents its association with PTPN11/SHP-2
Secondary accessions: Q5VYI2 Q5VYI6 Q5VYI7 Q96T47 Q9NQD2 Q9NQD3 Q9Y288
Alternative splicing: 4 isoforms:  Q9BZW8-1   Q9BZW8-2   Q9BZW8-3   Q9BZW8-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CD244: NX_Q9BZW8

Explore proteomics data for CD244 at MOPED

Post-translational modifications: 

  • N-linked glycosylation is essential for the binding to its ligand CD48. Also O-glycosylated, in contrast, O-linked
    sialylation has a negative impact on ligand binding1
  • Glycosylation2 at Asn71, Asn77, Asn89, Asn164, Asn181, Asn192, Asn200, Asn213
  • Modification sites at PhosphoSitePlus

  • See CD244 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001160135.1  NP_001160136.1  NP_057466.1  

    ENSEMBL proteins: 
     ENSP00000357013   ENSP00000357012   ENSP00000432636   ENSP00000313619   ENSP00000357011  
    Reactome Protein details: Q9BZW8

    CD244 Human Recombinant Protein Products:

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    R&D Systems Recombinant & Natural Proteins for CD244 (2B4/CD244/SLAMF4)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Proteins for CD244
    OriGene Protein Over-expression Lysate for CD244
    OriGene MassSpec for CD244
    OriGene Custom Protein Services for CD244
    GenScript Custom Purified and Recombinant Proteins Services for CD244
    Novus Biologicals CD244 Proteins
    Novus Biologicals CD244 Lysate
    Sino Biological Recombinant Protein for CD244
    Sino Biological Cell Lysate for CD244
    ProSpec Recombinant Protein for CD244
    Browse Proteins at Cloud-Clone Corp.

    CD244 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for CD244 (2B4/CD244/SLAMF4)
    OriGene Antibodies for CD244
    OriGene Custom Antibody Services for CD244
    Novus Biologicals CD244 Antibodies
    Abcam antibodies for CD244
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibodies for CD244
    LSBio Antibodies in human, mouse, rat for CD244

    CD244 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for CD244
    R&D Systems ELISAs for CD244 (2B4/CD244/SLAMF4)         (see all)
    GenScript Custom Assay Services for CD244
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CD: CD molecules
    IGD: Immunoglobulin superfamily / Immunoglobulin-like domain containing

    Selected InterPro protein domains (see all 6):
     IPR024304 NK_rcpt_2B4
     IPR015631 SLAM_fam_rcpts
     IPR013783 Ig-like_fold
     IPR007110 Ig-like_dom
     IPR024303 NK_rcpt_2B4_Ig_dom

    Graphical View of Domain Structure for InterPro Entry Q9BZW8

    ProtoNet protein and cluster: Q9BZW8

    1 Blocks protein domain: IPB003599 Immunoglobulin subtype

    UniProtKB/Swiss-Prot: CD244_HUMAN, Q9BZW8
    Similarity: Contains 2 Ig-like (immunoglobulin-like) domains


    CD244 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CD244_HUMAN, Q9BZW8
    Function: Modulate other receptor-ligand interactions to enhance leukocyte activation. CD244/2B4 is the only
    heterophilic receptor of SLAM family

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004872receptor activity IEA--
    GO:0005515protein binding IPI18296487
         
    CD244 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for CD244:
     Increased HPV18 LCR reporter a  Proliferating cells 

         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Cd244):
     hematopoietic system  immune system 

    CD244 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Cd244tm1Kmle for CD244

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CD244
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CD244

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CD244
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CD244

    miRNA
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    Block miRNA regulation of human, mouse, rat CD244 using miScript Target Protectors
    5 qRT-PCR Assays for microRNAs that regulate CD244:
    hsa-miR-1233 hsa-miR-186* hsa-miR-767-5p hsa-miR-551b* hsa-miR-3921
    SwitchGear 3'UTR luciferase reporter plasmidCD244 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CD244
    Predesigned siRNA for gene silencing in human, mouse, rat CD244

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CD244

    Clone
    Products:
         
    OriGene clones in human, mouse for CD244 (see all 15)
    OriGene ORF clones in mouse, rat for CD244
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): CD244 (NM_016382)
    Sino Biological Human cDNA Clone for CD244
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CD244
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CD244

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for CD244
    Browse ESI BIO Cell Lines and PureStem Progenitors for CD244 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CD244


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CD244_HUMAN, Q9BZW8: Membrane; Single-pass type I membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    nucleus1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0009897external side of plasma membrane IDA17213291
    GO:0016021integral component of membrane IEA--

    CD244 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CD244 About    
    See pathways by source

    SuperPathContained pathways About
    1Hemostasis
    Hemostasis0.43
    2Immune response Role of DAP12 receptors in NK cells
    Natural killer cell mediated cytotoxicity0.31
    3Cell surface interactions at the vascular wall
    Cell surface interactions at the vascular wall

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for CD244
        Cell surface interactions at the vascular wall


    1 Kegg Pathway  (Kegg details for CD244):
        Natural killer cell mediated cytotoxicity


    CD244 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including CD244: 
              Cell Surface Markers in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CD244

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    Selected Interacting proteins for CD244 (Q9BZW81, 2, 3 ENSP000003570134) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARHGEF7Q141552, 3, ENSP000003648934MINT-3374907 I2D: score=2 STRING: ENSP00000364893
    CD48P093261, 3, ENSP000003570254EBI-1580565,EBI-714770 I2D: score=2 STRING: ENSP00000357025
    SH2D1AO608802, 3, ENSP000003601814MINT-3371771 I2D: score=5 STRING: ENSP00000360181
    SH3BP2P783142, 3, ENSP000003486854MINT-8037426 I2D: score=1 STRING: ENSP00000348685
    CD247P209633, ENSP000003547824I2D: score=1 STRING: ENSP00000354782
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007165signal transduction TAS10358138
    GO:0007596blood coagulation TAS--
    GO:0050900leukocyte migration TAS--

    CD244 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CD244

    4 Novoseek inferred chemical compound relationships for CD244 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 42.5 8 10358138 (2), 11034353 (1), 11513144 (1), 11689425 (1) (see all 6)
    ly294002 25.6 4 12807490 (1), 11815622 (1)
    phosphoinositide 15.8 3 11815622 (2), 12807490 (1)
    lipid 0 6 12515815 (3), 15677558 (1)



    CD244 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CD244 gene (3 alternative transcripts): 
    NM_001166663.1  NM_001166664.1  NM_016382.3  

    Unigene Cluster for CD244:

    CD244 molecule, natural killer cell receptor 2B4
    Hs.157872  [show with all ESTs]
    Unigene Representative Sequence: NM_001166663
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000368034(uc001fxa.3 uc009wtr.3 uc009wtq.3 uc009wtp.3)
    ENST00000368033 ENST00000492063 ENST00000322302 ENST00000481677 ENST00000368032(uc010pjt.2)


    miRNA
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    Block miRNA regulation of human, mouse, rat CD244 using miScript Target Protectors
    5 qRT-PCR Assays for microRNAs that regulate CD244:
    hsa-miR-1233 hsa-miR-186* hsa-miR-767-5p hsa-miR-551b* hsa-miR-3921
    SwitchGear 3'UTR luciferase reporter plasmidCD244 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for CD244
    Predesigned siRNA for gene silencing in human, mouse, rat CD244
    Clone
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    OriGene clones in human, mouse for CD244 (see all 15)
    OriGene ORF clones in mouse, rat for CD244
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): CD244 (NM_016382)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CD244
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CD244
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for CD244
    OriGene qSTAR qPCR primer pairs in human, mouse for CD244
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CD244
      QuantiTect SYBR Green Assays in human, mouse, rat CD244
      QuantiFast Probe-based Assays in human, mouse, rat CD244

    Additional mRNA sequence: 

    AF105261.1 AF107761.2 AF117711.1 AF145782.1 AF242540.1 AF363452.1 AJ245375.1 AJ245376.1 
    AK295950.1 AK313201.1 BC028073.1 BC041607.1 BC053985.1 

    3 DOTS entries:

    DT.70103143  DT.97764917  DT.92043047 

    Selected AceView cDNA sequences (see all 27):

    AF105261 AJ245375 AI688606 BC028073 AF107761 AJ245377 NM_016382 AJ245376 
    BC041607 BC053985 BM561503 BX281209 BU752490 BM564435 AF242540 AF145782 
    AF117711 AI363168 AF363452 CB217129 BV198847 AW452231 BF432374 AI871467 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CD244 (see all 7)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c · 5d ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c
    SP1:                          -                 -                       -           -                       -                           
    SP2:                          -                                         -           -                       -                           
    SP3:                          -                 -                       -           -                                                   
    SP4:                          -                 -     -     -     -     -           -                       -                           
    SP5:                                                                                            -                                       


    ECgene alternative splicing isoforms for CD244

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CD244 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    CD244 Expression
    About this image


    CD244 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 4 entries
             Basophils Peripheral Blood
             monocytes   
     
     Thymus (Hematopoietic System)
             Thymus
     
     Bone (Muscoskeletal System)
             Zeugopod Periosteum
    CD244 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CD244 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.157872

    UniProtKB/Swiss-Prot: CD244_HUMAN, Q9BZW8
    Tissue specificity: Expressed in spleen, PBL, followed by lung, liver, testis and small intestine. Expressed not
    only in NK cells, but also on monocytes and basophils

        Pathway & Disease-focused RT2 Profiler PCR Array including CD244: 
              Cell Surface Markers in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for CD244
    OriGene qSTAR qPCR primer pairs in human, mouse for CD244
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CD244
    QuantiTect SYBR Green Assays in human, mouse, rat CD244
    QuantiFast Probe-based Assays in human, mouse, rat CD244
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CD244

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for CD244 gene from Selected species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cd2441 , 5 CD244 natural killer cell receptor 2B41, 5 68.34(n)1
    54.32(a)1
      1 (79.52 cM)5
    181061  NM_018729.21  NP_061199.21 
     1715591935 
    chicken
    (Gallus gallus)
    Aves CD2441 CD244 molecule, natural killer cell receptor 2B4 46.21(n)
    33.22(a)
      425935  XM_004950174.1  XP_004950231.1 


    ENSEMBL Gene Tree for CD244 (if available)
    TreeFam Gene Tree for CD244 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CD244 (see all 864)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1127891111,2
    C,F--160804305(+) CATGCC/TCAGCT 3 -- int12Minor allele frequency- T:0.50CSA 4
    rs340529931,2
    C--160804891(+) TTTTT-/TAAAGC 3 -- int10--------
    rs358316061,2
    C--160809862(+) CTCAAG/-GGGGG 3 -- int11Minor allele frequency- -:0.50CSA 2
    rs2020208781,2
    C--160809862(+) CTCAAA/GGNNNN 3 -- int10--------
    rs351519481,2
    C--160809922(+) GCTTC-/TTTTTT 3 -- int10--------
    rs610933101,2
    C--160815647(+) AAAAA-/AGAAAA 3 -- int10--------
    rs57781841,2
    C--160823573(+) aaaaa-/A/AA  
     AAAAAAA
    aaaaa
    6 -- int1 cds1 trp31NA 2
    rs571031691,2
    C--160826688(+) ATAGG-/AAAAAA 3 -- int11Minor allele frequency- A:0.50CSA 2
    rs1425355481,2
    C--160827838(+) CTCAC-/AAAAAA 3 -- int10--------
    rs1480278391,2
    C--160827875(+) AAATT-/AAAAAA 3 -- int10--------

    HapMap Linkage Disequilibrium report for CD244 (160799950 - 160832692 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for CD244: --
    Human Gene Mutation Database (HGMD): CD244
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CD244
    DNA2.0 Custom Variant and Variant Library Synthesis for CD244

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605554   
    OMIM disorders: 180300  
    Selected diseases for CD244 (see all 22):    
    About MalaCards
    rheumatoid arthritis    human t-cell leukemia virus type 1    allergic rhinitis    rhinitis
    myelodysplastic syndromes    t-cell leukemia    systemic lupus erythematosus    crohn's disease
    arthritis    influenza    lupus erythematosus    cervical cancer
    hepatitis b    cervicitis    neuroblastoma    inflammatory bowel disease
    hiv-1    hepatitis    melanoma    leukemia


    CD244 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014

    6 Novoseek inferred disease relationships for CD244 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    x-linked lymphoproliferative syndrome 91.9 5 11275258 (1), 11342640 (1), 11099315 (1), 15713798 (1)
    lymphoproliferative syndrome 89.7 5 11815622 (2), 11093147 (1), 11489943 (1)
    ebv infections 46.8 1 16710842 (1)
    tumors 7.82 3 15998796 (1), 19360406 (1), 19638467 (1)
    necrosis 0 2 16045743 (1), 19638467 (1)
    cancer 0 2 16710842 (1), 19360406 (1)

    Genetic Association Database (GAD): CD244
    Human Genome Epidemiology (HuGE) Navigator: CD244 (6 documents)

    Export disorders for CD244 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CD244 gene, integrated from 10 sources (see all 134):
    (articles sorted by number of sources associating them with CD244)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular characterization of a novel human natural killer cell receptor homologous to mouse 2B4. (PubMed id 10458320)1, 2, 3, 9 Boles K.S.... Mathew P.A. (Tissue Antigens 1999)
    2. Functional role of human NK cell receptor 2B4 (CD244) isoforms. (PubMed id 19499526)1, 2, 9 Mathew S.O.... Mathew P.A. (Eur. J. Immunol. 2009)
    3. Human 2B4, an activating NK cell receptor, recruits the protein tyrosine phosphatase SHP-2 and the adaptor signaling protein SAP. (PubMed id 10358138)1, 2, 9 Tangye S.G....Phillips J.H. (J. Immunol. 1999)
    4. Glycosylation affects ligand binding and function of the activating natural killer cell receptor 2B4 (CD244) protein. (PubMed id 21606496)1, 2 Margraf-Schonfeld S.... Watzl C. (J. Biol. Chem. 2011)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    6. Single nucleotide polymorphisms of CD244 gene predispose to renal and neuropsychiatric manifestations with systemic lupus erythematosus. (PubMed id 20437071)1, 4 Ota Y....Yamanaka H. (Mod Rheumatol 2010)
    7. Functional SNPs in CD244 increase the risk of rheumatoid arthritis in a Japanese population. (PubMed id 18794858)1, 4 Suzuki A....Yamamoto K. (Nat. Genet. 2008)
    8. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PubMed id 15340161)1, 2 Zhang Z. and Henzel W.J. (Protein Sci. 2004)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. X-linked lymphoproliferative disease: 2B4 molecules displaying inhibitory rather than activating function are responsible for the inability of natural killer cells to kill Epstein-Barr virus-infected cells. (PubMed id 10934222)1, 2 Parolini S.... Moretta A. (J. Exp. Med. 2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 51744 HGNC: 18171 AceView: CD244 Ensembl:ENSG00000122223 euGenes: HUgn51744
    ECgene: CD244 Kegg: 51744 H-InvDB: CD244

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for CD244 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for CD244 gene:
    Search GeneIP for patents involving CD244

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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