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 other CD3 subunits, binds either TCR alpha/beta or TCR gamma/delta to form the TCR/CD3 complex on the surface of T-cells. Def... See more...

Aliases for CD3D Gene

Aliases for CD3D Gene

  • CD3d Molecule 2 3 5
  • CD3d Antigen, Delta Polypeptide (TiT3 Complex) 2 3
  • T-Cell Surface Glycoprotein CD3 Delta Chain 3 4
  • CD3d Molecule, Delta (CD3-TCR Complex) 2 3
  • T-Cell Receptor T3 Delta Chain 3 4
  • T3D 3 4
  • CD3 Antigen, Delta Subunit 3
  • OKT3, Delta Chain 3
  • CD3d Antigen 4
  • CD3-DELTA 3
  • CD3 Delta 3
  • IMD19 3
  • CD3D 5

External Ids for CD3D Gene

Previous HGNC Symbols for CD3D Gene

  • T3D

Previous GeneCards Identifiers for CD3D Gene

  • GC11M120566
  • GC11M119721
  • GC11M118239
  • GC11M117747
  • GC11M117714
  • GC11M118212
  • GC11M114143

Summaries for CD3D Gene

Entrez Gene Summary for CD3D Gene

  • 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 other CD3 subunits, binds either TCR alpha/beta or TCR gamma/delta to form the TCR/CD3 complex on the surface of T-cells. Defects in this gene are a cause of severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-positive (SCIDBNK). Two transcript variants encoding different isoforms have been found for this gene. Other variants may also exist, but the full-length natures of their transcripts has yet to be defined. [provided by RefSeq, Feb 2009]

GeneCards Summary for CD3D Gene

CD3D (CD3d Molecule) is a Protein Coding gene. Diseases associated with CD3D include Immunodeficiency 19 and T-B+ Severe Combined Immunodeficiency Due To Cd3delta/Cd3epsilon/Cd3zeta. Among its related pathways are Antigen processing-Cross presentation and Signal transduction_Erk Interactions- Inhibition of Erk. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and transmembrane signaling receptor activity. An important paralog of this gene is CD3G.

UniProtKB/Swiss-Prot Summary for CD3D Gene

  • 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 membrane by the CD3 chains CD3D, CD3E, CD3G and CD3Z. All CD3 chains contain immunoreceptor tyrosine-based activation motifs (ITAMs) in their cytoplasmic domain. Upon TCR engagement, these motifs become phosphorylated by Src family protein tyrosine kinases LCK and FYN, resulting in the activation of downstream signaling pathways (PubMed:2470098). In addition of this role of signal transduction in T-cell activation, CD3D plays an essential role in thymocyte differentiation. Indeed, participates in correct intracellular TCR-CD3 complex assembly and surface expression. In absence of a functional TCR-CD3 complex, thymocytes are unable to differentiate properly. Interacts with CD4 and CD8 and thus serves to establish a functional link between the TCR and coreceptors CD4 and CD8, which is needed for activation and positive selection of CD4 or CD8 T-cells(PubMed:12215456).

Gene Wiki entry for CD3D Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CD3D Gene

Genomics for CD3D Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CD3D Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J118336 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 250.7 +0.5 452 10.7 NCOR1 ZNF592 ATF2 CEBPA NFIC SMAD5 BHLHE40 MNT ARNT NFATC3 CD3D CD3G HSALNG0087525 lnc-CD3D-2 LOC105369519 UBE4A MPZL3 CD3E TREHP1 IFT46
GH11J118146 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 17.5 +196.8 196821 1.4 ZNF207 ZNF654 ZNF600 ZNF10 NFIC ZIC2 CTCF REST SIN3A TRIM22 HSALNG0087505 lnc-SCN4B-2 SCN4B CD3D SCN2B CD3G CD3E TMPRSS4 TMPRSS13 SMIM35
GH11J118309 Promoter/Enhancer 1.9 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 17 +27.6 27604 11 BCLAF1 SP1 MYC ZNF600 IKZF1 JUND ZIC2 NFIC BCL11A REST HSALNG0087519 lnc-CD3D-1 UBE4A CD3G CD3D ARCN1 MPZL3 ENSG00000254909 KMT2A RPL23AP64
GH11J118210 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 12 +128.7 128733 7.2 BCLAF1 ZMYM3 CEBPA CHD4 YY1 MXD4 BCL11A CEBPB TRIM22 HOMEZ JAML MPZL3 CD3D CD3G CD3E MPZL2 HSPE1P18 SCN2B
GH11J118174 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 11.1 +167.2 167161 2.5 CEBPA YY1 CEBPB ZFP64 HOMEZ RXRA SAP130 RFX5 TEAD3 JUND SCN2B SCN4B CD3D CD3G CD3E TMPRSS4 FXYD6 FXYD6-FXYD2 TTC36
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CD3D on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CD3D

Top Transcription factor binding sites by QIAGEN in the CD3D gene promoter:
  • En-1
  • GATA-1
  • NF-1
  • NF-1/L
  • POU3F2
  • RP58
  • TBP
  • TFIID

Genomic Locations for CD3D Gene

Latest Assembly
chr11:118,338,954-118,342,705
(GRCh38/hg38)
Size:
3,752 bases
Orientation:
Minus strand

Previous Assembly
chr11:118,209,669-118,213,420
(GRCh37/hg19 by Entrez Gene)
Size:
3,752 bases
Orientation:
Minus strand

chr11:118,209,669-118,213,459
(GRCh37/hg19 by Ensembl)
Size:
3,791 bases
Orientation:
Minus strand

Genomic View for CD3D Gene

Genes around CD3D on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CD3D Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CD3D Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CD3D Gene

Proteins for CD3D Gene

  • Protein details for CD3D Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P04234-CD3D_HUMAN
    Recommended name:
    T-cell surface glycoprotein CD3 delta chain
    Protein Accession:
    P04234
    Secondary Accessions:
    • A8MVP6

    Protein attributes for CD3D Gene

    Size:
    171 amino acids
    Molecular mass:
    18930 Da
    Quaternary structure:
    • The TCR-CD3 complex is composed of a CD3D/CD3E and a CD3G/CD3E heterodimers that preferentially associate with TCRalpha and TCRbeta, respectively, to form TCRalpha/CD3E/CD3G and TCRbeta/CD3G/CD3E trimers. In turn, the hexamer interacts with CD3Z homodimer to form the TCR-CD3 complex. Alternatively, TCRalpha and TCRbeta can be replaced by TCRgamma and TCRdelta. Interacts with coreceptors CD4 and CD8 (PubMed:1396954, PubMed:12215456).

    Three dimensional structures from OCA and Proteopedia for CD3D Gene

    Alternative splice isoforms for CD3D Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CD3D Gene

Post-translational modifications for CD3D Gene

  • Phosphorylated on Tyr residues after T-cell receptor triggering by LCK in association with CD4/CD8.
  • Glycosylation at Asn38 and Asn74
  • Ubiquitination at Lys80 and Lys82
  • Modification sites at PhosphoSitePlus

Other Protein References for CD3D Gene

Antibodies for research

No data available for DME Specific Peptides for CD3D Gene

Domains & Families for CD3D Gene

Gene Families for CD3D Gene

HGNC:
Human Protein Atlas (HPA):
  • CD markers
  • Disease related genes
  • FDA approved drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for CD3D Gene

InterPro:
Blocks:
  • Phosphorylated immunoreceptor signaling ITAM

Suggested Antigen Peptide Sequences for CD3D Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ92244, Homo sapiens CD3D antigen, delta polypeptide (TiT3 complex) (CD3D),mRNA (B0YIY4_HUMAN)
  • T-cell receptor T3 delta chain (CD3D_HUMAN)
genes like me logo Genes that share domains with CD3D: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CD3D Gene

Function for CD3D Gene

Molecular function for CD3D Gene

UniProtKB/Swiss-Prot 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 membrane by the CD3 chains CD3D, CD3E, CD3G and CD3Z. All CD3 chains contain immunoreceptor tyrosine-based activation motifs (ITAMs) in their cytoplasmic domain. Upon TCR engagement, these motifs become phosphorylated by Src family protein tyrosine kinases LCK and FYN, resulting in the activation of downstream signaling pathways (PubMed:2470098). In addition of this role of signal transduction in T-cell activation, CD3D plays an essential role in thymocyte differentiation. Indeed, participates in correct intracellular TCR-CD3 complex assembly and surface expression. In absence of a functional TCR-CD3 complex, thymocytes are unable to differentiate properly. Interacts with CD4 and CD8 and thus serves to establish a functional link between the TCR and coreceptors CD4 and CD8, which is needed for activation and positive selection of CD4 or CD8 T-cells(PubMed:12215456).
GENATLAS Biochemistry:
cell differentiation antigen CD3D (gp20),20kDa,delta polypeptide (see CD3@)

Phenotypes From GWAS Catalog for CD3D Gene

Gene Ontology (GO) - Molecular Function for CD3D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity IC 9485181
GO:0005515 protein binding IPI 32296183
GO:0042802 identical protein binding IDA 14967045
GO:0046982 protein heterodimerization activity IPI 9485181
genes like me logo Genes that share ontologies with CD3D: view
genes like me logo Genes that share phenotypes with CD3D: view

Human Phenotype Ontology for CD3D Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CD3D Gene

MGI Knock Outs for CD3D:

miRNA for CD3D Gene

miRTarBase miRNAs that target CD3D

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CD3D

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CD3D Gene

Localization for CD3D Gene

Subcellular locations from UniProtKB/Swiss-Prot for CD3D Gene

Cell membrane. Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CD3D gene
Compartment Confidence
plasma membrane 5
extracellular 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
cytoskeleton 1
mitochondrion 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CD3D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm NAS 1831653
GO:0005886 plasma membrane TAS --
GO:0009897 external side of plasma membrane IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CD3D: view

Pathways & Interactions for CD3D Gene

PathCards logo

SuperPathways for CD3D Gene

SuperPathway Contained pathways
1 T cell receptor signaling pathway
2 Translocation of ZAP-70 to Immunological synapse
3 Immune response NFAT in immune response
.56
.56
.52
.52
4 ICos-ICosL Pathway in T-Helper Cell
.66
.66
.31
5 TCR Signaling (Qiagen)
.68
.68
.54
genes like me logo Genes that share pathways with CD3D: view

Pathways by source for CD3D Gene

13 GeneGo (Thomson Reuters) pathways for CD3D Gene
  • G-protein signaling N-RAS regulation pathway
  • G-protein signaling_Rap1A regulation pathway
  • G-protein signaling_Regulation of RAC1 activity
  • Immune response Antigen presentation by MHC class I
  • Immune response Antigen presentation by MHC class II
20 Qiagen pathways for CD3D Gene
  • Calcium Mediated T-Cell Apoptosis
  • CCR5 Pathway in Macrophages
  • CD28 Signaling in T-Helper Cell
  • CDC42 Pathway
  • CTL Mediated Apoptosis

SIGNOR curated interactions for CD3D Gene

Is activated by:

Gene Ontology (GO) - Biological Process for CD3D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002250 adaptive immune response IEA --
GO:0002376 immune system process IEA --
GO:0007166 cell surface receptor signaling pathway IC 9485181
GO:0045059 positive thymic T cell selection IBA,ISS --
GO:0050776 regulation of immune response TAS --
genes like me logo Genes that share ontologies with CD3D: view

Drugs & Compounds for CD3D Gene

(9) Drugs for CD3D Gene - From: DrugBank and DGIdb

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Muromonab Approved, Investigational Pharma Target, binder 0
Blinatumomab Approved, Investigational Pharma Target, activator 80
Catumaxomab Approved, Investigational, Withdrawn Pharma Antibody Others 17
Otelixizumab Investigational Pharma antibody 0
Visilizumab Investigational Pharma 14
genes like me logo Genes that share compounds with CD3D: view

Transcripts for CD3D Gene

mRNA/cDNA for CD3D Gene

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CD3D

Alternative Splicing Database (ASD) splice patterns (SP) for CD3D Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b
SP1:
SP2: -
SP3: -
SP4: - -

Relevant External Links for CD3D Gene

GeneLoc Exon Structure for
CD3D

Expression for CD3D Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CD3D Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CD3D Gene

This gene is overexpressed in Whole Blood (x21.3), Spleen (x8.4), and Small Intestine - Terminal Ileum (x6.6).

Protein differential expression in normal tissues from HIPED for CD3D Gene

This gene is overexpressed in Tlymphocyte (43.3) and CD8 Tcells (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CD3D Gene



Protein tissue co-expression partners for CD3D Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CD3D

SOURCE GeneReport for Unigene cluster for CD3D Gene:

Hs.504048

mRNA Expression by UniProt/SwissProt for CD3D Gene:

P04234-CD3D_HUMAN
Tissue specificity: CD3D is mostly present on T-lymphocytes with its TCR-CD3 partners. Present also in fetal NK-cells.

Evidence on tissue expression from TISSUES for CD3D Gene

  • Blood(4.6)
  • Lymph node(3.1)
  • Spleen(2.9)
  • Intestine(2.6)
  • Bone marrow(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CD3D Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
Regions:
Head and neck:
  • brain
  • ear
  • head
  • middle ear
Abdomen:
  • intestine
  • large intestine
  • liver
  • small intestine
  • spleen
General:
  • blood
  • bone marrow
  • lymph node
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with CD3D: view

Primer products for research

Orthologs for CD3D Gene

This gene was present in the common ancestor of chordates.

Orthologs for CD3D Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CD3D 29 30
  • 99.03 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CD3D 29 30
  • 80.51 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CD3D 29 30
  • 77.31 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cd3d 29
  • 76.22 (n)
Mouse
(Mus musculus)
Mammalia Cd3d 29 16 30
  • 75.24 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CD3D 30
  • 43 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CD3D 30
  • 38 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CD3D 29 30
  • 55.94 (n)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 28 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cd3g 29
  • 53.17 (n)
Species where no ortholog for CD3D was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for CD3D Gene

ENSEMBL:
Gene Tree for CD3D (if available)
TreeFam:
Gene Tree for CD3D (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CD3D: view image
Alliance of Genome Resources:
Additional Orthologs for CD3D

Paralogs for CD3D Gene

Paralogs for CD3D Gene

(1) SIMAP similar genes for CD3D Gene using alignment to 5 proteins:

  • CD3D_HUMAN
  • B0YIY4_HUMAN
  • E9PMT5_HUMAN
  • G8H453_HUMAN
  • H0YE18_HUMAN
genes like me logo Genes that share paralogs with CD3D: view

Variants for CD3D Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CD3D Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
1016811 Uncertain Significance: Immunodeficiency 19 118,339,172(-) C/T
NM_000732.6(CD3D):c.506G>A (p.Arg169Gln)
MISSENSE
1017550 Uncertain Significance: Immunodeficiency 19 118,340,497(-) A/G
NM_000732.6(CD3D):c.152T>C (p.Leu51Pro)
MISSENSE
1020817 Uncertain Significance: Immunodeficiency 19 118,340,462(-) G/A
NM_000732.6(CD3D):c.187C>T (p.Arg63Cys)
MISSENSE
1022082 Uncertain Significance: Immunodeficiency 19 118,339,489(-) C/T
NM_000732.6(CD3D):c.412G>A (p.Asp138Asn)
MISSENSE
1037829 Uncertain Significance: Immunodeficiency 19 118,340,523(-) T/C
NM_000732.6(CD3D):c.126A>G (p.Thr42=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CD3D Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CD3D Gene

Variant ID Type Subtype PubMed ID
esv3341931 CNV duplication 20981092

Variation tolerance for CD3D Gene

Residual Variation Intolerance Score: 45.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.59; 12.70% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CD3D Gene

Human Gene Mutation Database (HGMD)
CD3D
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CD3D
Leiden Open Variation Database (LOVD)
CD3D

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CD3D Gene

Disorders for CD3D Gene

MalaCards: The human disease database

(14) MalaCards diseases for CD3D Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
immunodeficiency 19
  • imd19
t-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zeta
  • t-b+ scid due to cd3delta/cd3epsilon/cd3zeta
severe combined immunodeficiency
  • combined t and b cell inborn immunodeficiency
severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive
  • scid, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive
combined immunodeficiency
  • combined t cell and b cell immunodeficiency
- elite association - COSMIC cancer census association via MalaCards
Search CD3D in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CD3D_HUMAN
  • Immunodeficiency 19 (IMD19) [MIM:615617]: An autosomal recessive form of severe combined immunodeficiency characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections. Patients usually have chronic diarrhea, recurrent respiratory infections, and failure to thrive. Immunologic work-up shows a T-cell negative, B-cell positive, NK-cell positive phenotype. {ECO:0000269 PubMed:14602880, ECO:0000269 PubMed:15546002, ECO:0000269 PubMed:21883749}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for CD3D

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CD3D: view

No data available for Genatlas for CD3D Gene

Publications for CD3D Gene

  1. Severe combined immunodeficiency caused by deficiency in either the delta or the epsilon subunit of CD3. (PMID: 15546002) de Saint Basile G … Le Deist F (The Journal of clinical investigation 2004) 3 4 22 72
  2. Effect of CD3delta deficiency on maturation of alpha/beta and gamma/delta T-cell lineages in severe combined immunodeficiency. (PMID: 14602880) Dadi HK … Roifman CM (The New England journal of medicine 2003) 3 4 72
  3. Ontogeny of human natural killer (NK) cells: fetal NK cells mediate cytolytic function and express cytoplasmic CD3 epsilon,delta proteins. (PMID: 1372642) Phillips JH … Lanier LL (The Journal of experimental medicine 1992) 3 4 22
  4. Genotype, phenotype, and outcomes of nine patients with T-B+NK+ SCID. (PMID: 21883749) Yu GP … Cowan MJ (Pediatric transplantation 2011) 4 72
  5. Evaluation of 6 candidate genes on chromosome 11q23 for coeliac disease susceptibility: a case control study. (PMID: 20478055) Brophy K … McManus R (BMC medical genetics 2010) 3 40

Products for CD3D Gene

Sources for CD3D Gene