CD3G Gene (Protein Coding)

CD3g Molecule

GC11P118344
GIFtS:
48
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

  • CD3g Molecule 2 3 5
  • CD3g Antigen, Gamma Polypeptide (TiT3 Complex) 2 3
  • T-Cell Surface Glycoprotein CD3 Gamma Chain 3 4
  • CD3g Molecule, Gamma (CD3-TCR Complex) 2 3
  • T-Cell Receptor T3 Gamma Chain 3 4
  • T3G 3 4
  • T-Cell Antigen Receptor Complex, Gamma Subunit Of T3 3
  • CD3g Molecule, Epsilon (CD3-TCR Complex) 3
  • CD3g Antigen 4
  • CD3-GAMMA 3
  • IMD17 3
  • CD3G 5

External Ids for CD3G Gene

Previous GeneCards Identifiers for CD3G Gene

  • GC11P120571
  • GC11P119726
  • GC11P118248
  • GC11P117752
  • GC11P117720
  • GC11P114148

Summaries for CD3G Gene

Entrez Gene Summary 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 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 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.

Gene Wiki entry for CD3G Gene

Additional gene information for CD3G Gene

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

Download GeneHancer 2017 data
Promoters and enhancers for CD3G 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 -2.1 -2091 10.7 NCOR1 ZNF592 ATF2 CEBPA NFIC SMAD5 BHLHE40 MNT ARNT NFATC3 CD3D CD3G HSALNG0087525 lnc-CD3D-2 LOC105369519 UBE4A MPZL3 CD3E TREHP1 IFT46
GH11J118309 Promoter/Enhancer 1.9 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 17.6 -29.2 -29243 11 BCLAF1 SP1 MYC ZNF600 IKZF1 JUND ZIC2 NFIC BCL11A REST HSALNG0087519 lnc-CD3D-1 UBE4A CD3G CD3D ARCN1 MPZL3 ENSG00000254909 KMT2A RPL23AP64
GH11J118146 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 11.4 -198.5 -198460 1.4 ZNF207 ZNF654 ZNF600 ZNF10 NFIC ZIC2 CTCF REST SIN3A TRIM22 HSALNG0087505 lnc-SCN4B-2 SCN4B CD3D SCN2B CD3G CD3E TMPRSS4 TMPRSS13 SMIM35
GH11J118210 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 12 -130.4 -130372 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 -168.8 -168800 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 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

Latest Assembly
chr11:118,344,344-118,355,161
(GRCh38/hg38)
Size:
10,818 bases
Orientation:
Plus strand

Previous Assembly
chr11:118,215,059-118,225,876
(GRCh37/hg19 by Entrez Gene)
Size:
10,818 bases
Orientation:
Plus strand

chr11:118,215,059-118,225,876
(GRCh37/hg19 by Ensembl)
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:
CD3G Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CD3G Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CD3G Gene

Proteins for CD3G Gene

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  • 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
    Secondary Accessions:
    • 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.

    Three dimensional structures from OCA and Proteopedia for CD3G Gene

neXtProt entry for CD3G Gene

Protein Expression for CD3G Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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
  • Ubiquitination at Lys32, Lys79, Lys93, Lys95, Lys150, and Lys164
  • Modification sites at PhosphoSitePlus

Other Protein References for CD3G Gene

ENSEMBL proteins:
REFSEQ proteins:

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

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

P09693

UniProtKB/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.
genes like me logo Genes that share domains with CD3G: view

Function for CD3G Gene

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  6. Cell Lines for research

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

Gene Ontology (GO) - Molecular Function for CD3G Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity IMP 12794121
GO:0005515 protein binding IPI 32296183
GO:0030159 receptor signaling complex scaffold activity NAS 12794121
GO:0042608 T cell receptor binding NAS 11186279
GO:0042802 identical protein binding IDA 14967045
genes like me logo Genes that share ontologies with CD3G: view
genes like me logo Genes that share phenotypes with CD3G: view

Human Phenotype Ontology for CD3G Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CD3G Gene

MGI Knock Outs for CD3G:

Animal Models for research

Inhibitory RNAs for research

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

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 CD3G gene
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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CD3G Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane NAS 9485181
GO:0009897 external side of plasma membrane IBA 21873635
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with CD3G: view

Pathways & Interactions for CD3G Gene

PathCards logo

SuperPathways for CD3G Gene

SuperPathway Contained pathways
1 Translocation of ZAP-70 to Immunological synapse
Phosphorylation of CD3 and TCR zeta chains
.81
Translocation of ZAP-70 to Immunological synapse
.81
PD-1 signaling
.71
Generation of second messenger molecules
.57
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
T cell receptor signaling pathway
.50
PD-L1 expression and PD-1 checkpoint pathway in cancer
.39
T-Cell antigen Receptor (TCR) Signaling Pathway
.37
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
genes like me logo Genes that share pathways with CD3G: view

Pathways by source for CD3G Gene

1 Sino Biological pathway 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

SIGNOR curated interactions for CD3G Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for CD3G Gene

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 IMP 12407027
GO:0015031 protein transport IMP 12794121
genes like me logo Genes that share ontologies with CD3G: view

Drugs & Compounds for CD3G Gene

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(9) Drugs for CD3G Gene - From: DrugBank, DGIdb, and Novoseek

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 17
Otelixizumab Investigational Pharma antibody 0
Visilizumab Investigational Pharma 14
ANTI-CD3 MONOCLONAL ANTIBODY Pharma 0
genes like me logo Genes that share compounds with CD3G: view

Transcripts for CD3G Gene

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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 :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CD3G

Alternative Splicing Database (ASD) splice patterns (SP) for CD3G Gene

No ASD Table

Relevant External Links for CD3G Gene

GeneLoc Exon Structure for
CD3G

Expression for CD3G Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CD3G Gene

mRNA expression in normal human tissues for CD3G Gene
mRNA expression by BioGPS for CD3G GenemRNA expression by GTEx for CD3G Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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).

Protein differential expression in normal tissues from HIPED for CD3G Gene

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



Protein tissue co-expression partners 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.2259

Evidence on tissue expression from TISSUES for CD3G Gene

  • Intestine(2.7)
  • Blood(2.7)
  • Lymph node(2.6)
  • Spleen(2.4)

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
genes like me logo Genes that share expression patterns with CD3G: view

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.

Orthologs for CD3G Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia CD3G 29 30
  • 99.45 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia CD3G 29 30
  • 80.77 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia CD3G 29 30
  • 80.15 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Cd3g 29 16 30
  • 79.56 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Cd3g 29
  • 79.19 (n)
Oppossum
(Monodelphis domestica)
 Mammalia CD3G 30
  • 54 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia CD3G 30
  • 53 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves CD3D 30
  • 41 (a)
 OneToMany
Lizard
(Anolis carolinensis)
 Reptilia -- 30
  • 31 (a)
 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
Alliance of Genome Resources:
Additional Orthologs for CD3G

Paralogs for CD3G Gene

Paralogs for CD3G Gene

(1) SIMAP similar genes for CD3G Gene using alignment to 6 proteins:

  • CD3G_HUMAN
  • A2N8H4_HUMAN
  • A2N8H5_HUMAN
  • A8MUH3_HUMAN
  • B0YIY5_HUMAN
  • J3KNA5_HUMAN
genes like me logo Genes that share paralogs with CD3G: view

Variants for CD3G Gene

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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
1010005 Uncertain Significance: Immunodeficiency 17 118,350,681(+) G/C
NM_000073.3(CD3G):c.437G>C (p.Arg146Thr) 		MISSENSE
1020660 Uncertain Significance: Immunodeficiency 17 118,349,053(+) A/G
NM_000073.3(CD3G):c.79+3A>G 		INTRON
845191 Uncertain Significance: Immunodeficiency 17 118,344,460(+) G/A
NM_000073.3(CD3G):c.37G>A (p.Ala13Thr) 		MISSENSE
849416 Uncertain Significance: Immunodeficiency 17 118,350,597(+) T/C
NM_000073.3(CD3G):c.353T>C (p.Phe118Ser) 		MISSENSE
863273 Uncertain Significance: Immunodeficiency 17 118,349,054(+) G/A
NM_000073.3(CD3G):c.79+4G>A 		INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CD3G 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 CD3G Gene

Variant ID Type Subtype PubMed ID
nsv820176 CNV loss 19587683

Variation tolerance for CD3G Gene

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

Human Gene Mutation Database (HGMD)
CD3G
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CD3G
Leiden Open Variation Database (LOVD)
CD3G

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CD3G Gene

Disorders for CD3G Gene

MalaCards: The human disease database

(12) MalaCards diseases for CD3G Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
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 variants 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

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 CD3G: view

Publications for CD3G Gene

  1. Brief report: primary immunodeficiency caused by mutations in the gene encoding the CD3-gamma subunit of the T-lymphocyte receptor. (PMID: 1635567) Arnaiz-Villena A … Regueiro JR (The New England journal of medicine 1992) 3 4 72
  2. 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
  3. Genetic variants at CD28, PRDM1 and CD2/CD58 are associated with rheumatoid arthritis risk. (PMID: 19898481) Raychaudhuri S … Plenge RM (Nature genetics 2009) 3 40
  4. 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 22
  5. 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 22

ExternalLinks

View latest publications for CD3G gene in Mastermind

Products for CD3G Gene

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