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    CD244 CD244 molecule [ Homo sapiens (human) ]

    Gene ID: 51744, updated on 2-Nov-2024

    Summary

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    Official Symbol
    CD244provided by HGNC
    Official Full Name
    CD244 moleculeprovided by HGNC
    Primary source
    HGNC:HGNC:18171
    See related
    Ensembl:ENSG00000122223 MIM:605554; AllianceGenome:HGNC:18171
    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
    2B4; NAIL; Nmrk; NKR2B4; SLAMF4
    Summary
    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]
    Expression
    Biased expression in spleen (RPKM 7.3), bone marrow (RPKM 3.3) and 12 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CD244 in Genome Data Viewer
    Location:
    1q23.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (160830160..160862887, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (159967199..159999910, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (160799950..160832677, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371470 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1956 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1957 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:160751105-160751606 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1958 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:160759219-160759411 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1959 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1960 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1961 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:160771561-160771810 Neighboring gene lymphocyte antigen 9 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:160807002-160807516 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1962 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1963 Neighboring gene peptidylprolyl isomerase A pseudogene 37 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1964 Neighboring gene intelectin 1 Neighboring gene spermine synthase pseudogene

    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 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. NK cell inhibitory receptors prevent tyrosine phosphorylation of the activation receptor 2B4 (CD244). Watzl C, et al. J Immunol, 2000 Oct 1. PMID 11034353
    2. Role of the 2B4 Receptor in CD8+ T-Cell-Dependent Immune Control of Epstein-Barr Virus Infection in Mice With Reconstituted Human Immune System Components. Chijioke O, et al. J Infect Dis, 2015 Sep 1. PMID 25722295
    3. Simultaneous TCR and CD244 signals induce dynamic downmodulation of CD244 on human antiviral T cells. Pacheco Y, et al. J Immunol, 2013 Sep 1. PMID 23913963, Free PMC Article
    4. 2B4 (CD244) is involved in eosinophil adhesion and chemotaxis, and its surface expression is increased in allergic rhinitis after challenge. El-Shazly AE, et al. Int J Immunopathol Pharmacol, 2011 Oct-Dec. PMID 22230401
    5. Dual function of the NK cell receptor 2B4 (CD244) in the regulation of HCV-specific CD8+ T cells. Schlaphoff V, et al. PLoS Pathog, 2011 May. PMID 21625589, Free PMC Article

    See all (120) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 2B4 inhibits the apoptosis of natural killer cells through phosphorylated extracellular signal-related kinase/B-cell lymphoma 2 signal pathway.
      Title: 2B4 inhibits the apoptosis of natural killer cells through phosphorylated extracellular signal-related kinase/B-cell lymphoma 2 signal pathway.
    2. Evaluation of mRNA Expression of CD244 and Its Adapter Molecules in CD8+ T Cells in Acute Leukemia.
      Title: Evaluation of mRNA Expression of CD244 and Its Adapter Molecules in CD8+ T Cells in Acute Leukemia.
    3. Expression and Clinical Significance of KLRG1 and 2B4 on T Cells in the Peripheral Blood and Tumour of Patients with Cervical Cancer.
      Title: Expression and Clinical Significance of KLRG1 and 2B4 on T Cells in the Peripheral Blood and Tumour of Patients with Cervical Cancer.
    4. Increased TOX expression concurrent with PD-1, Tim-3, and CD244 in T cells from patients with non-Hodgkin lymphoma.
      Title: Increased TOX expression concurrent with PD-1, Tim-3, and CD244 in T cells from patients with non-Hodgkin lymphoma.
    5. NKG2D Engagement Alone Is Sufficient to Activate Cytokine-Induced Killer Cells While 2B4 Only Provides Limited Coactivation.
      Title: NKG2D Engagement Alone Is Sufficient to Activate Cytokine-Induced Killer Cells While 2B4 Only Provides Limited Coactivation.
    6. Human innate lymphoid cell precursors express CD48 that modulates ILC differentiation through 2B4 signaling.
      Title: Human innate lymphoid cell precursors express CD48 that modulates ILC differentiation through 2B4 signaling.
    7. Brief Report: Diminished Coinhibitory Molecule 2B4 Expression Is Associated With Preserved iNKT Cell Phenotype in HIV Long-Term Nonprogressors.
      Title: Brief Report: Diminished Coinhibitory Molecule 2B4 Expression Is Associated With Preserved iNKT Cell Phenotype in HIV Long-Term Nonprogressors.
    8. CD244 represents a new therapeutic target in head and neck squamous cell carcinoma.
      Title: CD244 represents a new therapeutic target in head and neck squamous cell carcinoma.
    9. Increased attrition of memory T cells during sepsis requires 2B4.
      Title: Increased attrition of memory T cells during sepsis requires 2B4.
    10. The Emerging Role of CD244 Signaling in Immune Cells of the Tumor Microenvironment.
      Title: The Emerging Role of CD244 Signaling in Immune Cells of the Tumor Microenvironment.
    Submit: New GeneRIF Correction See all GeneRIFs (78)

    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

    Associated conditions

    Description Tests
    Rheumatoid arthritis
    MedGen: C0003873 OMIM: 180300 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
    EBI GWAS Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel 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

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of CD224 PubMed

    Go to the HIV-1, Human Interaction Database

    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 MHC class I protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables MHC class I protein binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables signaling receptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in adaptive immune response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in immune response IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in innate immune response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in natural killer cell activation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in natural killer cell activation involved in immune response IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in natural killer cell activation involved in immune response IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of granzyme B production IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of inositol phosphate biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of interleukin-8 production IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of type II interferon production IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in external side of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in external side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    natural killer cell receptor 2B4
    Names
    CD244 molecule, natural killer cell receptor 2B4
    NK cell activation inducing ligand NAIL
    NK cell activation-inducing ligand
    NK cell type I receptor protein 2B4
    SLAM family member 4
    h2B4
    signaling lymphocytic activation molecule 4

    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.

    Genomic

    1. NG_015991.1 RefSeqGene

      Range
      5016..37743
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001166663.2 → NP_001160135.1  natural killer cell receptor 2B4 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001160135.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate acceptor splice site at one of the coding exons compared to variant 1, resulting in an isoform (2) that is 5 aa longer than isoform 1.
      Source sequence(s)
      AF242540, BC028073, BC041607
      Consensus CDS
      CCDS53399.1
      UniProtKB/Swiss-Prot
      Q5VYI2, Q5VYI6, Q5VYI7, Q96T47, Q9BZW8, Q9NQD2, Q9NQD3, Q9Y288
      UniProtKB/TrEMBL
      B2R820
      Related
      ENSP00000357012.3, ENST00000368033.7
      Conserved Domains (2) summary
      pfam11465
      Location:22 → 127
      Receptor_2B4; Natural killer cell receptor 2B4
      pfam13895
      Location:153 → 215
      Ig_2; Immunoglobulin domain

    2. NM_001166664.2 → NP_001160136.1  natural killer cell receptor 2B4 isoform 3 precursor

      See identical proteins and their annotated locations for NP_001160136.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) is lacking an in-frame coding exon compared to variant 1, resulting in a shorter isoform (3) missing an internal protein segment compared to isoform 1.
      Source sequence(s)
      BC028073, BC041607
      Consensus CDS
      CCDS53398.1
      UniProtKB/Swiss-Prot
      Q9BZW8
      Related
      ENSP00000313619.7, ENST00000322302.7
      Conserved Domains (1) summary
      cl11960
      Location:22 → 127
      Ig; Immunoglobulin domain

    3. NM_016382.4 → NP_057466.1  natural killer cell receptor 2B4 isoform 1 precursor

      See identical proteins and their annotated locations for NP_057466.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript and encodes isoform 1.
      Source sequence(s)
      BC028073, BC041607
      Consensus CDS
      CCDS1210.1
      UniProtKB/TrEMBL
      B2R820
      Related
      ENSP00000357013.4, ENST00000368034.9
      Conserved Domains (3) summary
      pfam11465
      Location:22 → 127
      Receptor_2B4; Natural killer cell receptor 2B4
      pfam11669
      Location:192 → 269
      WBP-1; WW domain-binding protein 1
      pfam13895
      Location:131 → 210
      Ig_2; Immunoglobulin domain

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      160830160..160862887 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011509623.4 → XP_011507925.1  natural killer cell receptor 2B4 isoform X4

    2. XM_047422535.1 → XP_047278491.1  natural killer cell receptor 2B4 isoform X1

    3. XM_011509622.3 → XP_011507924.1  natural killer cell receptor 2B4 isoform X3

      See identical proteins and their annotated locations for XP_011507924.1

      UniProtKB/TrEMBL
      B2R820
      Related
      ENSP00000432636.1, ENST00000492063.5
      Conserved Domains (2) summary
      pfam11465
      Location:22 → 127
      Receptor_2B4; Natural killer cell receptor 2B4
      pfam13895
      Location:148 → 210
      Ig_2; Immunoglobulin domain

    4. XM_011509621.3 → XP_011507923.1  natural killer cell receptor 2B4 isoform X2

      UniProtKB/TrEMBL
      B2R820
      Conserved Domains (2) summary
      pfam11465
      Location:22 → 127
      Receptor_2B4; Natural killer cell receptor 2B4
      pfam13895
      Location:153 → 215
      Ig_2; Immunoglobulin domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      159967199..159999910 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054337010.1 → XP_054192985.1  natural killer cell receptor 2B4 isoform X4

    2. XM_054337007.1 → XP_054192982.1  natural killer cell receptor 2B4 isoform X1

    3. XM_054337009.1 → XP_054192984.1  natural killer cell receptor 2B4 isoform X3

    4. XM_054337008.1 → XP_054192983.1  natural killer cell receptor 2B4 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BZW8.2 GenPept UniProtKB/Swiss-Prot:Q9BZW8

    Gene LinkOut

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

    Chemical Information
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