CD226 CD226 molecule
Gene ID: 10666, updated on 10-Oct-2024Gene type: protein coding
Also known as: PTA1; DNAM1; DNAM-1; TLiSA1
- See all available tests in GTR for this gene
- Go to complete Gene record for CD226
- Go to Variation Viewer for CD226 variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. GeneReviews: Not available | |
| Genetics of rheumatoid arthritis contributes to biology and drug discovery. GeneReviews: Not available | |
| Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. GeneReviews: Not available | |
| Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. GeneReviews: Not available | |
| New gene functions in megakaryopoiesis and platelet formation. GeneReviews: Not available | |
| Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. GeneReviews: Not available |
Genomic context
- Location:
- 18q22.2
- Sequence:
- Chromosome: 18; NC_000018.10 (69853274..69961773, complement)
- Total number of exons:
- 10
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CD226 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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