CD226

CD226 molecule, the group of V-set domain containing|CD molecules

Basic information

Region (hg38): 18:69831158-69961803

Links

ENSG00000150637

∙ NCBI:10666 ∙ OMIM:605397 ∙ HGNC:16961 ∙ Uniprot:Q15762 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CD226 gene.

not_specified (44 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CD226 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001303618.2. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			37 clinvar	7 clinvar		44
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	37	7	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CD226	protein_coding	protein_coding	ENST00000280200	6	130646

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0392	0.955	125735	0	13	125748	0.0000517

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.737	159	187	0.849	0.00000987	2196
Missense in Polyphen		31	51.332	0.60391		641
Synonymous	-0.184	73	71.0	1.03	0.00000443	635
Loss of Function	2.40	5	15.1	0.332	6.39e-7	182

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000116	0.000116
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000529	0.0000527
Middle Eastern	0.00	0.00
South Asian	0.0000659	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Involved in intercellular adhesion, lymphocyte signaling, cytotoxicity and lymphokine secretion mediated by cytotoxic T-lymphocyte (CTL) and NK cell (PubMed:8673704). Cell surface receptor for NECTIN2. Upon ligand binding, stimulates T- cell proliferation and cytokine production, including that of IL2, IL5, IL10, IL13, and IFNG. Competes with PVRIG for NECTIN2-binding (PubMed:26755705). {ECO:0000269|PubMed:26755705, ECO:0000269|PubMed:8673704}.;
Pathway: Cell adhesion molecules (CAMs) - Homo sapiens (human);Immune System;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Adaptive Immune System (Consensus)

Recessive Scores

pRec: 0.236

Intolerance Scores

loftool: 0.469
rvis_EVS: 1.13
rvis_percentile_EVS: 92.19

Haploinsufficiency Scores

pHI: 0.0647
hipred: N
hipred_score: 0.273
ghis: 0.408

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.162

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

Gene name: Cd226
Phenotype: homeostasis/metabolism phenotype; immune system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); hematopoietic system phenotype; neoplasm;

Gene ontology

Biological process: cytokine production;positive regulation of natural killer cell cytokine production;positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target;positive regulation of immunoglobulin mediated immune response;cell adhesion;signal transduction;cell recognition;positive regulation of interferon-gamma production;positive regulation of mast cell activation;positive regulation of natural killer cell mediated cytotoxicity;regulation of immune response;positive regulation of T cell receptor signaling pathway;positive regulation of Fc receptor mediated stimulatory signaling pathway
Cellular component: plasma membrane;integral component of plasma membrane;external side of plasma membrane;cell surface;membrane raft
Molecular function: integrin binding;protein binding;protein kinase binding;cell adhesion molecule binding