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The protein encoded by this gene is the CD3-gamma polypeptide, which together with CD3-epsilon, -delta and -zeta, and the T-cell receptor alpha/beta and gamma/delta heterodimers, forms the T-cell receptor-CD3 complex. This complex plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. The genes encoding the epsilon, gamma ... See more...
Aliases for CD3G Gene
Aliases for CD3G Gene
External Ids for CD3G Gene
- HGNC: 1675
- Entrez Gene: 917
- Ensembl: ENSG00000160654
- OMIM: 186740
- UniProtKB: P09693
Previous GeneCards Identifiers for CD3G Gene
- GC11P120571
- GC11P119726
- GC11P118248
- GC11P117752
- GC11P117720
- GC11P114148
Summaries for CD3G Gene
-
The protein encoded by this gene is the CD3-gamma polypeptide, which together with CD3-epsilon, -delta and -zeta, and the T-cell receptor alpha/beta and gamma/delta heterodimers, forms the T-cell receptor-CD3 complex. This complex plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. The genes encoding the epsilon, gamma and delta polypeptides are located in the same cluster on chromosome 11. Defects in this gene are associated with T cell immunodeficiency. [provided by RefSeq, Jul 2008]
GeneCards Summary for CD3G Gene
CD3G (CD3g Molecule) is a Protein Coding gene. Diseases associated with CD3G include Immunodeficiency 17 and Immunodeficiency 19. Among its related pathways are Nur77 Signaling in T-Cell and Clathrin-mediated endocytosis. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and receptor signaling complex scaffold activity. An important paralog of this gene is CD3D.
UniProtKB/Swiss-Prot Summary for CD3G 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 to this role of signal transduction in T-cell activation, CD3G plays an essential role in the dynamic regulation of TCR expression at the cell surface (PubMed:8187769). Indeed, constitutive TCR cycling is dependent on the di-leucine-based (diL) receptor-sorting motif present in CD3G.
Additional gene information for CD3G Gene
- HGNC(1675)
- Entrez Gene(917)
- Ensembl(ENSG00000160654)
- OMIM(186740)
- UniProtKB(P09693)
- Open Targets Platform(ENSG00000160654)
- Monarch Initiative
- Search for CD3G at DataMed
- Search for CD3G at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CD3G Gene
Genomics for CD3G Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for CD3G Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around CD3G on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CD3G
- Top Transcription factor binding sites by QIAGEN in the CD3G gene promoter:
-
- En-1
- HSF2
- POU3F2
- RP58
- TBP
- TFIID
- YY1
Genomic Locations for CD3G Gene
Genomic Locations for CD3G Gene
- chr11:118,344,344-118,355,161
- (GRCh38/hg38)
- Size:
- 10,818 bases
- Orientation:
- Plus strand
- chr11:118,215,059-118,225,876
- (GRCh37/hg19)
- Size:
- 10,818 bases
- Orientation:
- Plus strand
Genomic View for CD3G Gene
Genes around CD3G on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 11q23.3 by HGNC
- 11q23.3 by Entrez Gene
- 11q23.3 by Ensembl
CD3G Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for CD3G Gene
Proteins for CD3G Gene
-
Protein details for CD3G Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P09693-CD3G_HUMAN
- Recommended name:
- T-cell surface glycoprotein CD3 gamma chain
- Protein Accession:
- P09693
- Q2HIZ6
Protein attributes for CD3G Gene
- Size:
- 182 amino acids
- Molecular mass:
- 20469 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.
Protein Expression for CD3G Gene
Post-translational modifications for CD3G Gene
- Phosphorylated on Tyr residues after T-cell receptor triggering by LCK in association with CD4/CD8 (PubMed:2470098). Phosphorylated also by PKC; leading to the TCR complex down-regulation (PubMed:8187769).
- Phosphorylated on Tyr residues after T-cell receptor triggering by LCK in association with CD4/CD8.
-
Glycosylation at Asn52 and Asn92
- NX_P09693 (NX_P09693-1)
-
Ubiquitination at Lys32, Lys79, Lys93, Lys95, Lys150, and Lys164
- NX_P09693 (NX_P09693-1)
- Modification sites at PhosphoSitePlus
Other Protein References for CD3G Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences CD3G Monoclonal Antibody
- G Biosciences Immunotag™ CD3G Antibody
- Creative Diagnostics Anti-CD3G monoclonal antibody, clone 3B7
- Creative Biolabs Recombinant Anti-Human CD3G Antibody and Mouse Anti-CD3G Recombinant Antibody (BW264/56)
-
Custom Antibody ServicesOriGene Antibodies for CD3G
- Novus Biologicals Antibodies for CD3G
- Invitrogen Antibodies for CD3G (AFLGC-CD3G)
-
Santa Cruz Biotechnology (SCBT) Antibodies for CD3G
- Sino Biological Antibodies for CD3G
Protein Products
- Creative Biomart Recombinant Human CD3G
-
OriGene Purified Proteins for CD3G
- Search Origene for MassSpec and Protein Over-expression Lysates for CD3G
- Origene Custom Protein Services for CD3G
- ProSpec Recombinant Proteins for CD3G
-
Abcam proteins for CD3G
Assay Products
- Novus Biologicals ELISA Kits for CD3G
- antibodies-online: Show 11 available CD3G Elisa Kits ranked by validation data
- Compare Top CD3G Elisa Kits
-
Quality Products:
-
Signalway ELISA kits for CD3G
No data available for DME Specific Peptides for CD3G Gene
Domains & Families for CD3G Gene
Gene Families for CD3G Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- CD markers
- Disease related genes
- FDA approved drug targets
- Plasma proteins
- Predicted intracellular proteins
- Predicted membrane proteins
Protein Domains for CD3G Gene
- InterPro:
- Blocks:
-
- Immunoglobulin C-2 type
- Phosphorylated immunoreceptor signaling ITAM
- ProtoNet:
Suggested Antigen Peptide Sequences for CD3G Gene
- GenScript: Design optimal peptide antigens:
-
- TCR Ti gamma-chain V8-J2 region (A2N8H4_HUMAN)
- TCR Ti gamma-chain V9-J2 region (A2N8H5_HUMAN)
- cDNA, FLJ94613, Homo sapiens CD3G antigen, gamma polypeptide (TiT3 complex) (CD3G),mRNA (B0YIY5_HUMAN)
- T-cell receptor T3 gamma chain (CD3G_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P09693UniProtKB/Swiss-Prot:
CD3G_HUMAN :- A di-leucine motif and a tyrosine-based motif are individually sufficient to induce both endocytosis and delivery to lysosomes.
- Domain:
-
- A di-leucine motif and a tyrosine-based motif are individually sufficient to induce both endocytosis and delivery to lysosomes.
Function for CD3G Gene
Molecular function for CD3G 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 to this role of signal transduction in T-cell activation, CD3G plays an essential role in the dynamic regulation of TCR expression at the cell surface (PubMed:8187769). Indeed, constitutive TCR cycling is dependent on the di-leucine-based (diL) receptor-sorting motif present in CD3G.
- GENATLAS Biochemistry:
- cell differentiation antigen CD3G (gp26),,gamma polypeptide (see CD3@),including an alternative splicing product pTAC12,component of the pre-T cell antigen receptor complex
Phenotypes From GWAS Catalog for CD3G Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004888 | transmembrane signaling receptor activity | IEA,IMP | 12794121 |
| GO:0030159 | receptor signaling complex scaffold activity | NAS | 12794121 |
| GO:0042608 | T cell receptor binding | NAS | 11186279 |
| GO:0042802 | identical protein binding | IDA | 14967045 |
| GO:0046982 | protein heterodimerization activity | IPI | 9485181 |
Phenotypes for CD3G Gene
- MGI mutant phenotypes for CD3G:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for CD3G:
-
- Decreased hepcidin::fluc mRNA expression
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased vaccinia virus (VACV) infection
- Increased viability with neratinib
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Decreased viability after Maraba virus infection
- Decreased shRNA abundance (Z-score < -2)
- Weakly decreased NFAT1-GFP nuclear translocation
- Increased shRNA abundance (Z-score > 2)
- Increased viability with MLN4924 (a NAE inhibitor)
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CD3G - Select products 50% OFF >
- * CD3G CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for CD3G
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CD3G
-
Santa Cruz Biotechnology (SCBT) CRISPR for CD3G
miRNA for CD3G Gene
- miRTarBase miRNAs that target CD3G
-
- hsa-miR-1227-3p (MIRT736144)
- hsa-miR-1273e (MIRT736768)
- hsa-miR-1273f (MIRT736790)
- hsa-miR-1827 (MIRT738088)
- hsa-miR-1910-3p (MIRT738393)
- hsa-miR-2467-3p (MIRT739251)
- hsa-miR-3612 (MIRT741553)
- hsa-miR-377-5p (MIRT742675)
- hsa-miR-4252 (MIRT743325)
- hsa-miR-4257 (MIRT743389)
- hsa-miR-4459 (MIRT744786)
- hsa-miR-4537 (MIRT746080)
- hsa-miR-455-3p (MIRT746166)
- hsa-miR-4695-5p (MIRT747167)
- hsa-miR-6086 (MIRT751829)
- hsa-miR-6499-3p (MIRT752783)
- hsa-miR-650 (MIRT753001)
- hsa-miR-6511a-5p (MIRT753118)
- hsa-miR-6516-5p (MIRT753330)
- hsa-miR-665 (MIRT753622)
- hsa-miR-6840-3p (MIRT757305)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CD3G
- Browse OriGene Inhibitory RNA Products For CD3G
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CD3G
Clone Products
- Applied Biological Materials (abm): Clones for CD3G - Select products 50% OFF >
- * CD3G as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for CD3G
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CD3G
Cell Line Products
-
Horizon Cell Lines for CD3G
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CD3G Gene
Localization for CD3G Gene
Subcellular locations from UniProtKB/Swiss-Prot for CD3G Gene
- Cell membrane. Single-pass type I membrane protein.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| cytosol | 4 |
| extracellular | 3 |
| mitochondrion | 2 |
| nucleus | 2 |
| endoplasmic reticulum | 2 |
| lysosome | 2 |
| golgi apparatus | 2 |
| cytoskeleton | 1 |
| endosome | 1 |
- Plasma membrane (3)
- Cytosol (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005829 | cytosol | IDA | -- |
| GO:0005886 | plasma membrane | IDA,TAS | -- |
| GO:0005887 | integral component of plasma membrane | NAS | 9485181 |
| GO:0009897 | external side of plasma membrane | IBA | 21873635 |
| GO:0016020 | membrane | IEA | -- |
Pathways & Interactions for CD3G Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Translocation of ZAP-70 to Immunological synapse |
.71
|
|
| 2 | Immune response NFAT in immune response |
Immune response ICOS pathway in T-helper cell
.56
Immune response NFAT in immune response
.56
|
Immune response T cell receptor signaling pathway
.52
Immune response CD28 signaling
.52
|
| 3 | T cell receptor signaling pathway | ||
| 4 | ICos-ICosL Pathway in T-Helper Cell |
CD28 Signaling in T-Helper Cell
.66
ICos-ICosL Pathway in T-Helper Cell
.66
|
Calcium Mediated T-Cell Apoptosis
.31
|
| 5 | TCR Signaling (Qiagen) |
PKC-Theta Pathway
.68
TCR Signaling
.68
|
ITK and TCR Signaling
.54
|
Pathways by source for CD3G Gene
2 Sino Biological pathways for CD3G Gene
7 BioSystems pathways for CD3G Gene
10 KEGG pathways for CD3G Gene
13 GeneGo (Thomson Reuters) pathways for CD3G 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 CD3G Gene
- Calcium Mediated T-Cell Apoptosis
- CCR5 Pathway in Macrophages
- CD28 Signaling in T-Helper Cell
- CDC42 Pathway
- CTL Mediated Apoptosis
Interacting Proteins for CD3G Gene
Selected Interacting proteins:
P09693-CD3G_HUMAN
ENSP00000431445
for CD3G Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for CD3G
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002250 | adaptive immune response | IEA | -- |
| GO:0002376 | immune system process | IEA | -- |
| GO:0007163 | establishment or maintenance of cell polarity | IMP | 12407027 |
| GO:0007166 | cell surface receptor signaling pathway | IEA,IMP | 12407027 |
| GO:0009967 | positive regulation of signal transduction | IEA | -- |
Drugs & Compounds for CD3G Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Muromonab | Approved, Investigational | Pharma | Target, binder | 0 | ||
| Catumaxomab | Approved, Investigational, Withdrawn | Pharma | Antibody | Others | 15 | |
| Otelixizumab | Investigational | Pharma | antibody | 0 | ||
| Visilizumab | Investigational | Pharma | 13 | |||
| ANTI-CD3 MONOCLONAL ANTIBODY | Pharma | 0 |
Drug Products
- Creative Biomart Recombinant Human CD3G
Transcripts for CD3G Gene
mRNA/cDNA for CD3G Gene
- 1 REFSEQ mRNAs :
- 12 NCBI additional mRNA sequence :
- 7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000533462 1307 nts (view in UCSC)
- ENST00000527777 745 nts (view in UCSC)
- ENST00000532917 2690 nts (view in UCSC)
- ENST00000292144 1525 nts (view in UCSC)
- ENST00000528540 234 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CD3G - Select products 50% OFF >
- * CD3G CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for CD3G
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CD3G
-
Santa Cruz Biotechnology (SCBT) CRISPR for CD3G
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CD3G
- Browse OriGene Inhibitory RNA Products For CD3G
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CD3G
Clone Products
- Applied Biological Materials (abm): Clones for CD3G - Select products 50% OFF >
- * CD3G as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for CD3G
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CD3G
Relevant External Links for CD3G Gene
- GeneLoc Exon Structure for
- CD3G
Expression for CD3G Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Blood (Hematopoietic System)
-
Hair (Integumentary System)
- Bulge Stem Cells Bulge
- Adipose (Muscoskeletal System)
-
Thymus (Hematopoietic System)
mRNA differential expression in normal tissues according to GTEx for CD3G Gene
This gene is overexpressed in Whole Blood (x22.0), Spleen (x7.1), and Small Intestine - Terminal Ileum (x5.8).
This gene is overexpressed in CD4 Tcells (26.1), CD8 Tcells (21.0), Peripheral blood mononuclear cells (9.8), and Lymph node (6.6).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CD3G Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CD3G
SOURCE GeneReport for Unigene cluster for CD3G Gene:
Hs.2259Evidence on tissue expression from TISSUES for CD3G Gene
- Blood(2.9)
- Intestine(2.8)
- Lymph node(2.7)
- Spleen(2.6)
- Bone marrow(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for CD3G Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- immune
- integumentary
- lymphatic
- nervous
- respiratory
Regions:
Head and neck:
- brain
- head
General:
- blood
- bone marrow
- skin
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for CD3G
-
OriGene qPCR primer pairs and template standards for CD3G
Gene Expression Assay Products
No data available for mRNA Expression by UniProt/SwissProt for CD3G Gene
Orthologs for CD3G Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | CD3G 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | CD3G 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | CD3G 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Cd3g 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Cd3g 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | CD3G 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | CD3G 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | CD3D 31 |
|
OneToMany | |
| Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany |
- Species where no ortholog for CD3G 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)
- Tropical Clawed Frog (Silurana tropicalis)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
- Zebrafish (Danio rerio)
Evolution for CD3G Gene
- ENSEMBL:
- Gene Tree for CD3G (if available)
- TreeFam:
- Gene Tree for CD3G (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for CD3G: view image
Paralogs for CD3G Gene
Variants for CD3G Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CD3G Gene
| SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 640654 | Uncertain Significance: Immunodeficiency 17 | 118,349,936(+) | G/C | MISSENSE_VARIANT | |
| 643291 | Uncertain Significance: Immunodeficiency 17 | 118,344,463(+) | A/G | MISSENSE_VARIANT | |
| 644192 | Uncertain Significance: Immunodeficiency 17 | 118,350,570(+) | A/G | MISSENSE_VARIANT | |
| 648713 | Uncertain Significance: Immunodeficiency 17 | 118,349,791(+) | T/C | MISSENSE_VARIANT | |
| 649896 | Uncertain Significance: Immunodeficiency 17 | 118,344,459(+) | G/A | SYNONYMOUS_VARIANT |
Residual Variation Intolerance Score:
70.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
10.80;
91.69% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for CD3G Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CD3G Gene
Disorders for CD3G Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| immunodeficiency 17 |
|
|
| immunodeficiency 19 |
|
|
| immunodeficiency 18 |
|
|
| enteropathy-associated t-cell lymphoma |
|
|
| cd3zeta deficiency |
|
|
Search CD3G in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
CD3G_HUMAN- Immunodeficiency 17 (IMD17) [MIM:615607]: An autosomal recessive primary immunodeficiency characterized by highly variable clinical severity. Some patients have onset of severe recurrent infections in early infancy that may be lethal, whereas others may be only mildly affected or essentially asymptomatic into young adulthood. More severely affected patients may have evidence of autoimmune disease or enteropathy. The immunologic pattern is similar among patients, showing partial T-cell lymphopenia, decreased amounts of the CD3 complex, and impaired proliferative responses to T-cell receptor dependent stimuli. The phenotype in some patients is reminiscent of severe combined immunodeficiency. {ECO:0000269 PubMed:1635567, ECO:0000269 PubMed:17277165}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Genatlas disease for CD3G Gene
immunodeficiency,severe,combined,defect in surface expression of T-cell receptor-CD3 complex and defective signal transduction,through the TCR
Additional Disease Information for CD3G
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
Publications for CD3G Gene
- 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 41
- Genetic variants at CD28, PRDM1 and CD2/CD58 are associated with rheumatoid arthritis risk. (PMID: 19898481) Raychaudhuri S … Plenge RM (Nature genetics 2009) 3 41
- Progressive loss of CD3 expression after HTLV-I infection results from chromatin remodeling affecting all the CD3 genes and persists despite early viral genes silencing. (PMID: 17822534) Akl H … Willard-Gallo KE (Virology journal 2007) 3 23
- Transcriptional regulation of the human CD3 gamma gene: the TATA-less CD3 gamma promoter functions via an initiator and contiguous Sp-binding elements. (PMID: 15879122) Badran BM … Willard-Gallo KE (Journal of immunology (Baltimore, Md. : 1950) 2005) 3 23
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
ExternalLinks
Products for CD3G Gene
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Sources for CD3G Gene
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