Human Gene CD226 (uc010dqo.3) Description and Page Index
  Description: Homo sapiens CD226 molecule (CD226), mRNA.
RefSeq Summary (NM_006566): 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].
Transcript (Including UTRs)
   Position: hg19 chr18:67,530,193-67,615,089 Size: 84,897 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg19 chr18:67,531,550-67,614,642 Size: 83,093 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr18:67,530,193-67,615,089)mRNA (may differ from genome)Protein (336 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkHGNCHPRDLynxMGIneXtProt
OMIMPubMedReactomeStanford SOURCETreefamUniProtKB
Wikipedia

-  Comments and Description Text from UniProtKB
  ID: CD226_HUMAN
DESCRIPTION: RecName: Full=CD226 antigen; AltName: Full=DNAX accessory molecule 1; Short=DNAM-1; AltName: CD_antigen=CD226; Flags: Precursor;
FUNCTION: Receptor involved in intercellular adhesion, lymphocyte signaling, cytotoxicity and lymphokine secretion mediated by cytotoxic T-lymphocyte (CTL) and NK cell.
SUBUNIT: Interacts with PVR and PVRL2.
INTERACTION: Q92692:PVRL2; NbExp=2; IntAct=EBI-4314442, EBI-718419;
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein (Potential).
TISSUE SPECIFICITY: Expressed by peripheral blood T-lymphocytes.
SIMILARITY: Contains 2 Ig-like C2-type (immunoglobulin-like) domains.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): CD226
CDC HuGE Published Literature: CD226
Positive Disease Associations: Diabetes Mellitus, Type 1 , mean platelet volume , type 1 diabetes
Related Studies:
  1. Diabetes Mellitus, Type 1
    John A Todd et al. Nature genetics 2007, Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes., Nature genetics. [PubMed 17554260]
  2. Diabetes Mellitus, Type 1
    Vincent Plagnol et al. PLoS genetics 2011, Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases., PLoS genetics. [PubMed 21829393]
  3. mean platelet volume
    Soranzo ,et al. 2009, A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium, Nature genetics 2009 41- 11 : 1182-90. [PubMed 19820697]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: CD226
Diseases sorted by gene-association score: ovarian cystic teratoma (11), mature teratoma of the ovary (10), refractory celiac disease (7), lymphoproliferative syndrome, x-linked, 1 (6), wegener granulomatosis (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 35.01 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 45.85 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -96.30447-0.215 Picture PostScript Text
3' UTR -359.521357-0.265 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007110 - Ig-like
IPR013783 - Ig-like_fold
IPR003598 - Ig_sub2
IPR013106 - Ig_V-set

Pfam Domains:
PF07686 - Immunoglobulin V-set domain

SCOP Domains:
48726 - Immunoglobulin

ModBase Predicted Comparative 3D Structure on Q15762
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005178 integrin binding
GO:0005515 protein binding
GO:0019901 protein kinase binding
GO:0042803 protein homodimerization activity
GO:0050839 cell adhesion molecule binding

Biological Process:
GO:0001816 cytokine production
GO:0002729 positive regulation of natural killer cell cytokine production
GO:0002860 positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target
GO:0002891 positive regulation of immunoglobulin mediated immune response
GO:0007155 cell adhesion
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules
GO:0007157 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules
GO:0007165 signal transduction
GO:0008037 cell recognition
GO:0032729 positive regulation of interferon-gamma production
GO:0033005 positive regulation of mast cell activation
GO:0045954 positive regulation of natural killer cell mediated cytotoxicity
GO:0050776 regulation of immune response
GO:0050862 positive regulation of T cell receptor signaling pathway
GO:0060369 positive regulation of Fc receptor mediated stimulatory signaling pathway

Cellular Component:
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0005913 cell-cell adherens junction
GO:0009897 external side of plasma membrane
GO:0009986 cell surface
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0045121 membrane raft


-  Descriptions from all associated GenBank mRNAs
  GU935335 - Homo sapiens CD226 antigen Delta 12 nt mutant (CD226) mRNA, complete sequence, alternatively spliced.
GU935336 - Homo sapiens CD226 antigen Delta exon 2-3 (CD226) mRNA, complete sequence, alternatively spliced.
U56102 - Human adhesion molecule DNAM-1 mRNA, complete cds.
JD172534 - Sequence 153558 from Patent EP1572962.
JD208260 - Sequence 189284 from Patent EP1572962.
JD224237 - Sequence 205261 from Patent EP1572962.
JD440941 - Sequence 421965 from Patent EP1572962.
JD353256 - Sequence 334280 from Patent EP1572962.
JD493294 - Sequence 474318 from Patent EP1572962.
JD304667 - Sequence 285691 from Patent EP1572962.
JD501876 - Sequence 482900 from Patent EP1572962.
JD181541 - Sequence 162565 from Patent EP1572962.
JD206161 - Sequence 187185 from Patent EP1572962.
JD077171 - Sequence 58195 from Patent EP1572962.
JD077810 - Sequence 58834 from Patent EP1572962.
JD444371 - Sequence 425395 from Patent EP1572962.
JD453181 - Sequence 434205 from Patent EP1572962.
JD131566 - Sequence 112590 from Patent EP1572962.
JD355967 - Sequence 336991 from Patent EP1572962.
JD507687 - Sequence 488711 from Patent EP1572962.
AJ537553 - Homo sapiens mRNA for DNAM-1 protein.
BC074787 - Homo sapiens CD226 molecule, mRNA (cDNA clone MGC:104109 IMAGE:30915562), complete cds.
AK313199 - Homo sapiens cDNA, FLJ93698, highly similar to Homo sapiens CD226 antigen (CD226), mRNA.
KJ898272 - Synthetic construct Homo sapiens clone ccsbBroadEn_07666 CD226 gene, encodes complete protein.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04514 - Cell adhesion molecules (CAMs)

Reactome (by CSHL, EBI, and GO)

Protein Q15762 (Reactome details) participates in the following event(s):

R-HSA-199131 PVR binds CD226
R-HSA-199144 Nectin 2 binds CD226
R-HSA-198933 Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
R-HSA-1280218 Adaptive Immune System
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: AK313199, B2R818, CD226_HUMAN, DNAM1, NM_006566, NP_006557, Q15762
UCSC ID: uc010dqo.3
RefSeq Accession: NM_006566
Protein: Q15762 (aka CD226_HUMAN or C226_HUMAN)
CCDS: CCDS11997.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AK313199.1
exon count: 6CDS single in 3' UTR: no RNA size: 1459
ORF size: 1011CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2024.50frame shift in genome: no % Coverage: 99.93
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 420# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.