Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
917
Gene name Gene Name - the full gene name approved by the HGNC.
CD3 gamma subunit of T-cell receptor complex
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CD3G
Synonyms (NCBI Gene) Gene synonyms aliases
CD3-GAMMA, CD3GAMMA, IMD17, T3G
Disease Acronyms (UniProt) Disease acronyms from UniProt database
IMD17
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q23.3
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs199676861 A>T Pathogenic Stop gained, coding sequence variant
rs483352927 AAACCACTTGGTTAAGG>- Pathogenic Splice acceptor variant, coding sequence variant
rs570768621 A>-,AA Pathogenic, conflicting-interpretations-of-pathogenicity Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT875312 hsa-miR-10a CLIP-seq
MIRT875313 hsa-miR-10b CLIP-seq
MIRT875314 hsa-miR-1227 CLIP-seq
MIRT875315 hsa-miR-142-3p CLIP-seq
MIRT875316 hsa-miR-1909 CLIP-seq
Transcription factors
Transcription factor Regulation Reference
NFATC1 Activation 15879122;16219537
NFATC1 Repression 15879122
NFATC2 Repression 15879122;16219537
NFKB1 Activation 16219537
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0002250 Process Adaptive immune response IEA
GO:0004888 Function Transmembrane signaling receptor activity IBA 21873635
GO:0004888 Function Transmembrane signaling receptor activity IMP 12794121
GO:0005515 Function Protein binding IPI 32296183
GO:0005829 Component Cytosol IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
186740 1675 ENSG00000160654
Protein
UniProt ID P09693
Protein name T-cell surface glycoprotein CD3 gamma chain (T-cell receptor T3 gamma chain) (CD antigen CD3g)
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 1SY6 , 6JXR , 7FJD , 7FJE , 7FJF , 7PHR , 7Q5U , 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 39 115 T-cell surface glycoprotein CD3 delta chain Domain
PF02189 ITAM 157 176 Immunoreceptor tyrosine-based activation motif Motif
Sequence
MEQGKGLAVLILAIILLQGTLAQSIKGNHLVKVYDYQEDGSVLLTCDAEAKNITWFKDGK
MIGFLTEDKKKWNLGSNAKDPRGMYQCKGSQNKSKPLQVYYRMCQNCIELNAATI
SGFLF
AEIVSIFVLAVGVYFIAGQDGVRQSRASDKQTLLPNDQLYQPLKDREDDQYSHLQGNQLR
RN
Sequence length 182
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
  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
FCGR activation
Regulation of actin dynamics for phagocytic cup formation
Role of phospholipids in phagocytosis
PD-1 signaling
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
FCGR3A-mediated IL10 synthesis
FCGR3A-mediated phagocytosis
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Immunodeficiency IMMUNODEFICIENCY 17, Combined immunodeficiency due to CD3gamma deficiency rs1565678077, rs121908002, rs1421444086, rs1565688667, rs944235493, rs121918314, rs587776713, rs137852678, rs587776714, rs128620188, rs2147483647, rs1569556522, rs137853331, rs137853332, rs179363866
View all (256 more)
24910257, 17277165
Severe combined immunodeficiency disease Combined immunodeficiency rs886037607, rs118203993, rs121908714, rs121908739, rs121908740, rs121908735, rs121908721, rs121908722, rs121908156, rs1564414523, rs1564418254, rs1564446526, rs786205074, rs121908157, rs121908159
View all (197 more)
17277165
Unknown
Disease term Disease name Evidence References Source
Otitis media Recurrent otitis media ClinVar
Associations from Text Mining
Disease Name Relationship Type References
Adenomatous Polyposis Coli Associate 38073344
Anemia Aplastic Stimulate 22401598
Autoimmune Diseases Associate 24910257, 31921117
Breast Neoplasms Associate 34572592
Carcinoma Hepatocellular Associate 22731821
Carcinoma Renal Cell Associate 39465721
Cerebral Infarction Inhibit 40702735
Colorectal Neoplasms Associate 34975867
Common Variable Immunodeficiency Associate 31921117
Dermatitis Atopic Associate 24910257