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    CD244 CD244 molecule [ Homo sapiens (human) ]

    Gene ID: 51744, updated on 7-Dec-2018

    Summary

    Official Symbol
    CD244provided by HGNC
    Official Full Name
    CD244 moleculeprovided by HGNC
    Primary source
    HGNC:HGNC:18171
    See related
    Ensembl:ENSG00000122223 MIM:605554
    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

    Genomic context

    See CD244 in Genome Data Viewer
    Location:
    1q23.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (160830160..160862902, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (160799950..160832692, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371470 Neighboring gene lymphocyte antigen 9 Neighboring gene intelectin 1 Neighboring gene spermine synthase pseudogene

    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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

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

    NHGRI GWAS Catalog

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

    HIV-1 interactions

    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 BioSystems

    • Cell surface interactions at the vascular wall, organism-specific biosystem (from REACTOME)
      Cell surface interactions at the vascular wall, organism-specific biosystemLeukocyte extravasation is a rigorously controlled process that guides white cell movement from the vascular lumen to sites of tissue inflammation. The powerful adhesive interactions that are require...
    • Hemostasis, organism-specific biosystem (from REACTOME)
      Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
    • 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
    MHC class I protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    signaling receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    external side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    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)

    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
      5001..37743
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001166663.1NP_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
      Q9BZW8
      Related
      ENSP00000357012.3, ENST00000368033.7
      Conserved Domains (2) summary
      pfam11465
      Location:22127
      Receptor_2B4; Natural killer cell receptor 2B4
      pfam13895
      Location:153215
      Ig_2; Immunoglobulin domain
    2. NM_001166664.1NP_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:22127
      Ig; Immunoglobulin domain
    3. NM_016382.4NP_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/Swiss-Prot
      Q9BZW8
      Related
      ENSP00000357013.4, ENST00000368034.8
      Conserved Domains (3) summary
      pfam11465
      Location:22127
      Receptor_2B4; Natural killer cell receptor 2B4
      pfam11669
      Location:192269
      WBP-1; WW domain-binding protein 1
      pfam13895
      Location:131210
      Ig_2; Immunoglobulin domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

      Range
      160830160..160862902 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011509623.3XP_011507925.1  natural killer cell receptor 2B4 isoform X3

    2. XM_011509622.2XP_011507924.1  natural killer cell receptor 2B4 isoform X2

      See identical proteins and their annotated locations for XP_011507924.1

      UniProtKB/Swiss-Prot
      Q9BZW8
      Related
      ENSP00000432636.1, ENST00000492063.5
      Conserved Domains (2) summary
      pfam11465
      Location:22127
      Receptor_2B4; Natural killer cell receptor 2B4
      pfam13895
      Location:148210
      Ig_2; Immunoglobulin domain
    3. XM_011509621.2XP_011507923.1  natural killer cell receptor 2B4 isoform X1

      Conserved Domains (2) summary
      pfam11465
      Location:22127
      Receptor_2B4; Natural killer cell receptor 2B4
      pfam13895
      Location:153215
      Ig_2; Immunoglobulin domain

    RNA

    1. XR_001737229.1 RNA Sequence

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