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    CD226 CD226 molecule [ Homo sapiens (human) ]

    Gene ID: 10666, updated on 14-Oct-2018

    Summary

    Official Symbol
    CD226provided by HGNC
    Official Full Name
    CD226 moleculeprovided by HGNC
    Primary source
    HGNC:HGNC:16961
    See related
    Ensembl:ENSG00000150637 MIM:605397; Vega:OTTHUMG00000132809
    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
    PTA1; DNAM1; DNAM-1; TLiSA1
    Summary
    This gene encodes a glycoprotein expressed on the surface of NK cells, platelets, monocytes and a subset of T cells. It is a member of the Ig-superfamily containing 2 Ig-like domains of the V-set. The protein mediates cellular adhesion of platelets and megakaryocytic cells to vascular endothelial cells. The protein also plays a role in megakaryocytic cell maturation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
    Expression
    Broad expression in spleen (RPKM 2.4), lymph node (RPKM 1.3) and 15 other tissues See more
    Orthologs

    Genomic context

    See CD226 in Genome Data Viewer
    Location:
    18q22.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 18 NC_000018.10 (69860228..69962086, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (67530192..67624412, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene docking protein 6 Neighboring gene uncharacterized LOC105372178 Neighboring gene uncharacterized LOC107985138 Neighboring gene rotatin Neighboring gene uncharacterized LOC105372180

    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

    NHGRI GWAS Catalog

    Description
    A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.
    NHGRI GWA Catalog
    Genetics of rheumatoid arthritis contributes to biology and drug discovery.
    NHGRI GWA Catalog
    Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.
    NHGRI GWA Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    NHGRI GWA Catalog
    New gene functions in megakaryopoiesis and platelet formation.
    NHGRI GWA Catalog
    Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.
    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 CD226 PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef NK-cell mediated lysis of HIV-1-infected cells via the interaction between DNAM1 and PVR is reduced by HIV-1 Nef PubMed
    Vif vif HIV-1 Vif downregulates the expression of CD226 in Vif-expression T cells PubMed

    Go to the HIV-1, Human Interaction Database

    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...
    • Cell adhesion molecules (CAMs), organism-specific biosystem (from KEGG)
      Cell adhesion molecules (CAMs), organism-specific biosystemCell adhesion molecules are (glyco)proteins expressed on the cell surface and play a critical role in a wide array of biologic processes that include hemostasis, the immune response, inflammation, em...
    • Cell adhesion molecules (CAMs), conserved biosystem (from KEGG)
      Cell adhesion molecules (CAMs), conserved biosystemCell adhesion molecules are (glyco)proteins expressed on the cell surface and play a critical role in a wide array of biologic processes that include hemostasis, the immune response, inflammation, em...
    • 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...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    cell adhesion molecule binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    integrin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    cell recognition TAS
    Traceable Author Statement
    more info
    PubMed 
    cytokine production IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    positive regulation of Fc receptor mediated stimulatory signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    positive regulation of Fc receptor mediated stimulatory signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of T cell receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    positive regulation of T cell receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of immunoglobulin mediated immune response IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    positive regulation of immunoglobulin mediated immune response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of interferon-gamma production IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    positive regulation of mast cell activation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    positive regulation of mast cell activation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of natural killer cell cytokine production IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    positive regulation of natural killer cell mediated cytotoxicity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of immune response TAS
    Traceable Author Statement
    more info
     
    signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    external side of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    membrane raft TAS
    Traceable Author Statement
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    CD226 antigen
    Names
    DNAX accessory molecule-1
    T lineage-specific activation antigen 1 antigen
    adhesion glycoprotein
    platelet and T cell activation antigen 1

    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_001303618.1NP_001290547.1  CD226 antigen isoform a precursor

      See identical proteins and their annotated locations for NP_001290547.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (a).
      Source sequence(s)
      AC090231, AK313199, U56102
      Consensus CDS
      CCDS11997.1
      UniProtKB/Swiss-Prot
      Q15762
      Related
      ENSP00000461947.1, OTTHUMP00000259894, ENST00000582621.5, OTTHUMT00000442983
      Conserved Domains (2) summary
      smart00410
      Location:138240
      IG_like; Immunoglobulin like
      cl11960
      Location:31127
      Ig; Immunoglobulin domain
    2. NM_001303619.1NP_001290548.1  CD226 antigen isoform b

      See identical proteins and their annotated locations for NP_001290548.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus compared to isoform a.
      Source sequence(s)
      AC011930, AC090231, DB224741, GU935336
      Consensus CDS
      CCDS77197.1
      UniProtKB/TrEMBL
      J3QR77
      Related
      ENSP00000464084.1, OTTHUMP00000259892, ENST00000581982.5, OTTHUMT00000442981
      Conserved Domains (2) summary
      smart00410
      Location:4585
      IG_like; Immunoglobulin like
      cl11960
      Location:4586
      Ig; Immunoglobulin domain
    3. NM_006566.3NP_006557.2  CD226 antigen isoform a precursor

      See identical proteins and their annotated locations for NP_006557.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1 and 2 encode the same isoform.
      Source sequence(s)
      AC011930, AC090231, DB224741, U56102
      Consensus CDS
      CCDS11997.1
      UniProtKB/Swiss-Prot
      Q15762
      Related
      ENSP00000280200.4, OTTHUMP00000163693, ENST00000280200.8, OTTHUMT00000256226
      Conserved Domains (2) summary
      smart00410
      Location:138240
      IG_like; Immunoglobulin like
      cl11960
      Location:31127
      Ig; 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_000018.10 Reference GRCh38.p12 Primary Assembly

      Range
      69860228..69962086 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006722374.3XP_006722437.1  CD226 antigen isoform X2

      Conserved Domains (2) summary
      smart00410
      Location:15117
      IG_like; Immunoglobulin like
      cl11960
      Location:13117
      Ig; Immunoglobulin domain
    2. XM_005266642.3XP_005266699.1  CD226 antigen isoform X1

      See identical proteins and their annotated locations for XP_005266699.1

      UniProtKB/Swiss-Prot
      Q15762
      Conserved Domains (2) summary
      smart00410
      Location:138240
      IG_like; Immunoglobulin like
      cl11960
      Location:31127
      Ig; Immunoglobulin domain
    3. XM_017025526.1XP_016881015.1  CD226 antigen isoform X3

      UniProtKB/TrEMBL
      J3QR77
      Conserved Domains (2) summary
      smart00410
      Location:4585
      IG_like; Immunoglobulin like
      cl11960
      Location:4586
      Ig; Immunoglobulin domain
    4. XM_017025527.1XP_016881016.1  CD226 antigen isoform X3

      UniProtKB/TrEMBL
      J3QR77
      Related
      ENSP00000462453.1, OTTHUMP00000259893, ENST00000577287.5, OTTHUMT00000442982
      Conserved Domains (2) summary
      smart00410
      Location:4585
      IG_like; Immunoglobulin like
      cl11960
      Location:4586
      Ig; Immunoglobulin domain
    5. XM_017025525.1XP_016881014.1  CD226 antigen isoform X3

      UniProtKB/TrEMBL
      J3QR77
      Conserved Domains (2) summary
      smart00410
      Location:4585
      IG_like; Immunoglobulin like
      cl11960
      Location:4586
      Ig; Immunoglobulin domain
    6. XM_005266643.3XP_005266700.1  CD226 antigen isoform X3

      See identical proteins and their annotated locations for XP_005266700.1

      UniProtKB/TrEMBL
      J3QR77
      Conserved Domains (2) summary
      smart00410
      Location:4585
      IG_like; Immunoglobulin like
      cl11960
      Location:4586
      Ig; Immunoglobulin domain
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