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CD226 CD226 molecule [ Homo sapiens (human) ]

Gene ID: 10666, updated on 14-May-2024

Summary

Official Symbol
CD226provided by HGNC
Official Full Name
CD226 moleculeprovided by HGNC
Primary source
HGNC:HGNC:16961
See related
Ensembl:ENSG00000150637 MIM:605397; AllianceGenome:HGNC:16961
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
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Genomic context

Location:
18q22.2
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (69853274..69961773, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (70070086..70220680, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (67520510..67624035, complement)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372179 Neighboring gene docking protein 6 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:67373070-67373873 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_49392 Neighboring gene uncharacterized LOC107985138 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:67506461-67506962 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13475 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:67602408-67603607 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13477 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13480 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13479 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13478 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9538 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9539 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13481 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr18:67714790-67715989 Neighboring gene Sharpr-MPRA regulatory region 7597 Neighboring gene rotatin Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13482 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13483 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13484 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:67872991-67873620 Neighboring gene uncharacterized LOC105372180 Neighboring gene uncharacterized LOC124904321

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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

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

NEW Try the new Transcript table

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_001303618.2NP_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, AC091137, AK313199, U56102
    Consensus CDS
    CCDS11997.1
    UniProtKB/Swiss-Prot
    B2R818, Q15762
    Related
    ENSP00000461947.1, ENST00000582621.6
    Conserved Domains (2) summary
    smart00410
    Location:138240
    IG_like; Immunoglobulin like
    cl11960
    Location:31127
    Ig; Immunoglobulin domain
  2. NM_001303619.2NP_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)
    AC090231, GU935336
    Consensus CDS
    CCDS77197.1
    UniProtKB/TrEMBL
    J3QR77
    Related
    ENSP00000464084.1, ENST00000581982.5
    Conserved Domains (2) summary
    smart00410
    Location:4585
    IG_like; Immunoglobulin like
    cl11960
    Location:4586
    Ig; Immunoglobulin domain
  3. NM_006566.4NP_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)
    AC090231, U56102
    Consensus CDS
    CCDS11997.1
    UniProtKB/Swiss-Prot
    B2R818, Q15762
    Related
    ENSP00000280200.4, ENST00000280200.8
    Conserved Domains (2) summary
    smart00410
    Location:138240
    IG_like; Immunoglobulin like
    cl11960
    Location:31127
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

    Range
    69853274..69961773 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006722374.4XP_006722437.1  CD226 antigen isoform X3

    Conserved Domains (2) summary
    smart00410
    Location:15117
    IG_like; Immunoglobulin like
    cl11960
    Location:13117
    Ig; Immunoglobulin domain
  2. XM_005266642.4XP_005266699.1  CD226 antigen isoform X1

    See identical proteins and their annotated locations for XP_005266699.1

    UniProtKB/Swiss-Prot
    B2R818, Q15762
    Conserved Domains (2) summary
    smart00410
    Location:138240
    IG_like; Immunoglobulin like
    cl11960
    Location:31127
    Ig; Immunoglobulin domain
  3. XM_047437275.1XP_047293231.1  CD226 antigen isoform X1

    UniProtKB/Swiss-Prot
    B2R818, Q15762
  4. XM_047437274.1XP_047293230.1  CD226 antigen isoform X1

    UniProtKB/Swiss-Prot
    B2R818, Q15762
  5. XM_047437277.1XP_047293233.1  CD226 antigen isoform X4

    UniProtKB/TrEMBL
    J3QR77
  6. XM_047437276.1XP_047293232.1  CD226 antigen isoform X2

    Related
    ENSP00000463927.1, ENST00000579496.5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    70070086..70220680 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054318150.1XP_054174125.1  CD226 antigen isoform X1

  2. XM_054318152.1XP_054174127.1  CD226 antigen isoform X1

  3. XM_054318154.1XP_054174129.1  CD226 antigen isoform X1

  4. XM_054318151.1XP_054174126.1  CD226 antigen isoform X1

  5. XM_054318148.1XP_054174123.1  CD226 antigen isoform X5

  6. XM_054318155.1XP_054174130.1  CD226 antigen isoform X1

  7. XM_054318149.1XP_054174124.1  CD226 antigen isoform X1

  8. XM_054318153.1XP_054174128.1  CD226 antigen isoform X1

  9. XM_054318157.1XP_054174132.1  CD226 antigen isoform X4

  10. XM_054318156.1XP_054174131.1  CD226 antigen isoform X6