CD226 CD226 molecule [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

Location:: 18q22.2

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (69853274..69961773, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (70070086..70220680, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (67520510..67624035, complement)

Chromosome 18 - NC_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Impact of the Multiple Sclerosis-Associated Genetic Variant CD226 Gly307Ser on Human CD8 T-Cell Functions.
Title: Impact of the Multiple Sclerosis-Associated Genetic Variant CD226 Gly307Ser on Human CD8 T-Cell Functions.
Exercise-induced beta2-adrenergic Receptor Activation Enhances the Antileukemic Activity of Expanded gammadelta T-Cells via DNAM-1 Upregulation and PVR/Nectin-2 Recognition.
Title: Exercise-induced β2-adrenergic Receptor Activation Enhances the Antileukemic Activity of Expanded γδ T-Cells via DNAM-1 Upregulation and PVR/Nectin-2 Recognition.
Essential role of CD155 glycosylation in functional binding to DNAM-1 on natural killer cells.
Title: Essential role of CD155 glycosylation in functional binding to DNAM-1 on natural killer cells.
Increased levels of circulating soluble CD226 in multiple sclerosis.
Title: Increased levels of circulating soluble CD226 in multiple sclerosis.
[Expression of CD226 in the small intestinal group 3 innate lymphoid cells (ILC3) in mice].
Title: [Expression of CD226 in the small intestinal group 3 innate lymphoid cells (ILC3) in mice].
CD155 and Its Receptors as Targets for Cancer Therapy.
Title: CD155 and Its Receptors as Targets for Cancer Therapy.
TIGIT can inhibit T cell activation via ligation-induced nanoclusters, independent of CD226 co-stimulation.
Title: TIGIT can inhibit T cell activation via ligation-induced nanoclusters, independent of CD226 co-stimulation.
Upregulation of the CD155-CD226 Axis Is Associated With Muscle Inflammation and Disease Severity in Idiopathic Inflammatory Myopathies.
Title: Upregulation of the CD155-CD226 Axis Is Associated With Muscle Inflammation and Disease Severity in Idiopathic Inflammatory Myopathies.
Upregulation of CD226 on subsets of T cells and NK cells is associated with upregulated adhesion molecules and cytotoxic factors in patients with tuberculosis.
Title: Upregulation of CD226 on subsets of T cells and NK cells is associated with upregulated adhesion molecules and cytotoxic factors in patients with tuberculosis.
Decrease in CD226 expression on CD4[+] T cells in patients with endometriosis.
Title: Decrease in CD226 expression on CD4(+) T cells in patients with endometriosis.

Submit: New GeneRIF Correction See all GeneRIFs (134)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-143948 (e-PCR)
- UniSTS:172106

SHGC-78167 (e-PCR)
- UniSTS:101197

NoName (e-PCR)
- UniSTS:481924

RH122627 (e-PCR)
- UniSTS:135072

AFMB022WE1 (e-PCR)
- UniSTS:6061

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
enables signaling receptor activity	IDA Inferred from Direct Assay 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 natural killer cell mediated cytotoxicity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of Fc receptor mediated stimulatory signaling pathway	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	IBA Inferred from Biological aspect of Ancestor more info
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
is_active_in plasma membrane	IC Inferred by Curator more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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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)

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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)

NM_001303618.2 → NP_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:138 → 240

IG_like; Immunoglobulin like

cl11960
Location:31 → 127

Ig; Immunoglobulin domain
NM_001303619.2 → NP_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:45 → 85

IG_like; Immunoglobulin like

cl11960
Location:45 → 86

Ig; Immunoglobulin domain
NM_006566.4 → NP_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:138 → 240

IG_like; Immunoglobulin like

cl11960
Location:31 → 127

Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000018.10 Reference GRCh38.p14 Primary Assembly

Range

69853274..69961773 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006722374.4 → XP_006722437.1 CD226 antigen isoform X3

Conserved Domains (2) summary

smart00410
Location:15 → 117

IG_like; Immunoglobulin like

cl11960
Location:13 → 117

Ig; Immunoglobulin domain
XM_005266642.4 → XP_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:138 → 240

IG_like; Immunoglobulin like

cl11960
Location:31 → 127

Ig; Immunoglobulin domain
XM_047437275.1 → XP_047293231.1 CD226 antigen isoform X1

UniProtKB/Swiss-Prot

B2R818, Q15762
XM_047437274.1 → XP_047293230.1 CD226 antigen isoform X1

UniProtKB/Swiss-Prot

B2R818, Q15762
XM_047437277.1 → XP_047293233.1 CD226 antigen isoform X4

UniProtKB/TrEMBL

J3QR77
XM_047437276.1 → XP_047293232.1 CD226 antigen isoform X2

UniProtKB/TrEMBL

J3QQW1

Related

ENSP00000463927.1, ENST00000579496.5