Gene Gene information from NCBI Gene database.
Entrez ID 915
Gene name CD3 delta subunit of T-cell receptor complex
Gene symbol CD3D
Synonyms (NCBI Gene)
CD3-DELTACD3DELTAIMD19T3D
Chromosome 11
Chromosome location 11q23.3
Summary The protein encoded by this gene is part of the T-cell receptor/CD3 complex (TCR/CD3 complex) and is involved in T-cell development and signal transduction. The encoded membrane protein represents the delta subunit of the CD3 complex, and along with four
SNPs SNP information provided by dbSNP.
4
SNP ID Visualize variation Clinical significance Consequence
rs111033580 G>A,T Pathogenic, likely-benign Synonymous variant, coding sequence variant, stop gained
rs111033581 G>T Pathogenic Stop gained, coding sequence variant, intron variant
rs730880296 C>T Pathogenic Intron variant
rs1591278347 C>T Pathogenic Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
283
miRTarBase ID miRNA Experiments Reference
MIRT634780 hsa-miR-4530 HITS-CLIP 23824327
MIRT672316 hsa-miR-4645-5p HITS-CLIP 23824327
MIRT672315 hsa-miR-4673 HITS-CLIP 23824327
MIRT672314 hsa-miR-4755-3p HITS-CLIP 23824327
MIRT634779 hsa-miR-3622b-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
GO ID Ontology Definition Evidence Reference
GO:0002250 Process Adaptive immune response IEA
GO:0002250 Process Adaptive immune response NAS 29789755
GO:0002376 Process Immune system process IEA
GO:0004888 Function Transmembrane signaling receptor activity IBA
GO:0004888 Function Transmembrane signaling receptor activity IC 9485181
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
186790 1673 ENSG00000167286
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P04234
Protein name T-cell surface glycoprotein CD3 delta chain (T-cell receptor T3 delta chain) (CD antigen CD3d)
Protein function Part of the TCR-CD3 complex present on T-lymphocyte cell surface that plays an essential role in adaptive immune response. When antigen presenting cells (APCs) activate T-cell receptor (TCR), TCR-mediated signals are transmitted across the cell
PDB 1XIW , 6JXR , 7FJD , 7FJE , 7FJF , 7PHR , 8ES7 , 8ES8 , 8ES9 , 8JC0 , 8JCB , 8TW4 , 8TW6 , 8WXE , 8WY0 , 8WYI , 8YC0 , 9BBC , 9C3E , 9CI8 , 9CIA , 9CQ4
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16680 Ig_4 30 104 T-cell surface glycoprotein CD3 delta chain Domain
PF02189 ITAM 146 165 Immunoreceptor tyrosine-based activation motif Motif
Tissue specificity TISSUE SPECIFICITY: CD3D is mostly present on T-lymphocytes with its TCR-CD3 partners. Present also in fetal NK-cells. {ECO:0000269|PubMed:1372642}.
Sequence
MEHSTFLSGLVLATLLSQVSPFKIPIEELEDRVFVNCNTSITWVEGTVGTLLSDITRLDL
GKRILDPRGIYRCNGTDIYKDKESTVQVHYRMCQSCVELDPATV
AGIIVTDVIATLLLAL
GVFCFAGHETGRLSGAADTQALLRNDQVYQPLRDRDDAQYSHLGGNWARNK
Sequence length 171
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Hematopoietic cell lineage
Th1 and Th2 cell differentiation
Th17 cell differentiation
T cell receptor signaling pathway
Chagas disease
Measles
Human T-cell leukemia virus 1 infection
Epstein-Barr virus infection
Human immunodeficiency virus 1 infection
PD-L1 expression and PD-1 checkpoint pathway in cancer
Primary immunodeficiency
  Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
Downstream TCR signaling
Phosphorylation of CD3 and TCR zeta chains
Translocation of ZAP-70 to Immunological synapse
Generation of second messenger molecules
PD-1 signaling
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
12
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
CD3D-related disorder Likely pathogenic; Pathogenic rs730880296 RCV003398816
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Immunodeficiency 19 Pathogenic; Likely pathogenic rs1180673589, rs1341165259, rs2134058885, rs730880296, rs111033580, rs111033581, rs2496878055, rs1311932817, rs2496872144, rs767884151, rs1262227887, rs2496878023, rs2496870461, rs1172098673, rs1591278347 RCV001389381
RCV001970739
RCV002016082
RCV000157634
RCV000083294
View all (10 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Severe combined immunodeficiency disease Pathogenic rs2496872976 RCV003487261
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BILIARY CIRRHOSIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DERMATITIS, ALLERGIC CONTACT CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Immunodeficiency 104 Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adult T-Cell Lymphoma/Leukemia T-Cell Lymphoma/Leukemia BEFREE 1834326
★☆☆☆☆
Found in Text Mining only
Anemia Aplastic Aplastic anemia Pubtator 22401598 Stimulate
★☆☆☆☆
Found in Text Mining only
Anorexia Anorexia HPO_DG
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 36311761 Associate
★☆☆☆☆
Found in Text Mining only
Bare Lymphocyte Syndrome Bare Lymphocyte Syndrome CTD_human_DG 15546002
★☆☆☆☆
Found in Text Mining only
Biliary cirrhosis Biliary cirrhosis CTD_human_DG 18422935
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Biliary Cirrhosis, Primary, 1 Biliary cirrhosis CTD_human_DG 18422935
★☆☆☆☆
Found in Text Mining only
Brain Diseases Brain disease Pubtator 29484035 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 26174627
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 33350431, 34572592 Associate
★☆☆☆☆
Found in Text Mining only