Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	917
Gene name	CD3 gamma subunit of T-cell receptor complex
Gene symbol	CD3G
Synonyms (NCBI Gene)	CD3-GAMMACD3GAMMAIMD17T3G
Chromosome	11
Chromosome location	11q23.3
Summary	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

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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

142

Show/Hide all (142)

miRTarBase ID	miRNA	Experiments
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
MIRT875317	hsa-miR-3132	CLIP-seq
MIRT875318	hsa-miR-3187-3p	CLIP-seq
MIRT875319	hsa-miR-339-5p	CLIP-seq
MIRT875320	hsa-miR-3926	CLIP-seq
MIRT875321	hsa-miR-3929	CLIP-seq
MIRT875322	hsa-miR-3934	CLIP-seq
MIRT875323	hsa-miR-4419b	CLIP-seq
MIRT875324	hsa-miR-4421	CLIP-seq
MIRT875325	hsa-miR-4433	CLIP-seq
MIRT875326	hsa-miR-4435	CLIP-seq
MIRT875327	hsa-miR-4453	CLIP-seq
MIRT875328	hsa-miR-4478	CLIP-seq
MIRT875329	hsa-miR-4536	CLIP-seq
MIRT875330	hsa-miR-4538	CLIP-seq
MIRT875331	hsa-miR-4649-3p	CLIP-seq
MIRT875332	hsa-miR-4662a-5p	CLIP-seq
MIRT875333	hsa-miR-4676-5p	CLIP-seq
MIRT875334	hsa-miR-4684-5p	CLIP-seq
MIRT875335	hsa-miR-4690-5p	CLIP-seq
MIRT875336	hsa-miR-4701-5p	CLIP-seq
MIRT875337	hsa-miR-4722-5p	CLIP-seq
MIRT875338	hsa-miR-4768-3p	CLIP-seq
MIRT875339	hsa-miR-4786-5p	CLIP-seq
MIRT875340	hsa-miR-485-5p	CLIP-seq
MIRT875341	hsa-miR-548p	CLIP-seq
MIRT875342	hsa-miR-548s	CLIP-seq
MIRT875343	hsa-miR-550a	CLIP-seq
MIRT875344	hsa-miR-575	CLIP-seq
MIRT875345	hsa-miR-588	CLIP-seq
MIRT875346	hsa-miR-593	CLIP-seq
MIRT875347	hsa-miR-648	CLIP-seq
MIRT875348	hsa-miR-940	CLIP-seq
MIRT875315	hsa-miR-142-3p	CLIP-seq
MIRT875316	hsa-miR-1909	CLIP-seq
MIRT875318	hsa-miR-3187-3p	CLIP-seq
MIRT1959519	hsa-miR-3614-5p	CLIP-seq
MIRT875320	hsa-miR-3926	CLIP-seq
MIRT875321	hsa-miR-3929	CLIP-seq
MIRT875322	hsa-miR-3934	CLIP-seq
MIRT875323	hsa-miR-4419b	CLIP-seq
MIRT875325	hsa-miR-4433	CLIP-seq
MIRT875326	hsa-miR-4435	CLIP-seq
MIRT875327	hsa-miR-4453	CLIP-seq
MIRT875328	hsa-miR-4478	CLIP-seq
MIRT875329	hsa-miR-4536	CLIP-seq
MIRT875330	hsa-miR-4538	CLIP-seq
MIRT875331	hsa-miR-4649-3p	CLIP-seq
MIRT875332	hsa-miR-4662a-5p	CLIP-seq
MIRT875333	hsa-miR-4676-5p	CLIP-seq
MIRT875335	hsa-miR-4690-5p	CLIP-seq
MIRT875336	hsa-miR-4701-5p	CLIP-seq
MIRT875337	hsa-miR-4722-5p	CLIP-seq
MIRT1959520	hsa-miR-4767	CLIP-seq
MIRT875338	hsa-miR-4768-3p	CLIP-seq
MIRT875339	hsa-miR-4786-5p	CLIP-seq
MIRT875340	hsa-miR-485-5p	CLIP-seq
MIRT875342	hsa-miR-548s	CLIP-seq
MIRT875343	hsa-miR-550a	CLIP-seq
MIRT875344	hsa-miR-575	CLIP-seq
MIRT875345	hsa-miR-588	CLIP-seq
MIRT875347	hsa-miR-648	CLIP-seq
MIRT875348	hsa-miR-940	CLIP-seq
MIRT2196499	hsa-miR-22	CLIP-seq
MIRT875318	hsa-miR-3187-3p	CLIP-seq
MIRT1959519	hsa-miR-3614-5p	CLIP-seq
MIRT2196500	hsa-miR-3921	CLIP-seq
MIRT875320	hsa-miR-3926	CLIP-seq
MIRT875321	hsa-miR-3929	CLIP-seq
MIRT875323	hsa-miR-4419b	CLIP-seq
MIRT875325	hsa-miR-4433	CLIP-seq
MIRT875326	hsa-miR-4435	CLIP-seq
MIRT875327	hsa-miR-4453	CLIP-seq
MIRT875328	hsa-miR-4478	CLIP-seq
MIRT875330	hsa-miR-4538	CLIP-seq
MIRT875331	hsa-miR-4649-3p	CLIP-seq
MIRT2196501	hsa-miR-4653-5p	CLIP-seq
MIRT875336	hsa-miR-4701-5p	CLIP-seq
MIRT875337	hsa-miR-4722-5p	CLIP-seq
MIRT1959520	hsa-miR-4767	CLIP-seq
MIRT875338	hsa-miR-4768-3p	CLIP-seq
MIRT875339	hsa-miR-4786-5p	CLIP-seq
MIRT875340	hsa-miR-485-5p	CLIP-seq
MIRT875342	hsa-miR-548s	CLIP-seq
MIRT875345	hsa-miR-588	CLIP-seq
MIRT875348	hsa-miR-940	CLIP-seq
MIRT875316	hsa-miR-1909	CLIP-seq
MIRT875317	hsa-miR-3132	CLIP-seq
MIRT875335	hsa-miR-4690-5p	CLIP-seq
MIRT875312	hsa-miR-10a	CLIP-seq
MIRT875313	hsa-miR-10b	CLIP-seq
MIRT875319	hsa-miR-339-5p	CLIP-seq
MIRT875322	hsa-miR-3934	CLIP-seq
MIRT875324	hsa-miR-4421	CLIP-seq
MIRT875329	hsa-miR-4536	CLIP-seq
MIRT875332	hsa-miR-4662a-5p	CLIP-seq
MIRT875333	hsa-miR-4676-5p	CLIP-seq
MIRT875334	hsa-miR-4684-5p	CLIP-seq
MIRT875337	hsa-miR-4722-5p	CLIP-seq
MIRT875338	hsa-miR-4768-3p	CLIP-seq
MIRT2446600	hsa-miR-548c-3p	CLIP-seq
MIRT875344	hsa-miR-575	CLIP-seq
MIRT875346	hsa-miR-593	CLIP-seq
MIRT875348	hsa-miR-940	CLIP-seq
MIRT875312	hsa-miR-10a	CLIP-seq
MIRT875313	hsa-miR-10b	CLIP-seq
MIRT875315	hsa-miR-142-3p	CLIP-seq
MIRT875319	hsa-miR-339-5p	CLIP-seq
MIRT875322	hsa-miR-3934	CLIP-seq
MIRT875324	hsa-miR-4421	CLIP-seq
MIRT875329	hsa-miR-4536	CLIP-seq
MIRT875332	hsa-miR-4662a-5p	CLIP-seq
MIRT875333	hsa-miR-4676-5p	CLIP-seq
MIRT875334	hsa-miR-4684-5p	CLIP-seq
MIRT875337	hsa-miR-4722-5p	CLIP-seq
MIRT875338	hsa-miR-4768-3p	CLIP-seq
MIRT2446600	hsa-miR-548c-3p	CLIP-seq
MIRT875341	hsa-miR-548p	CLIP-seq
MIRT875344	hsa-miR-575	CLIP-seq
MIRT875346	hsa-miR-593	CLIP-seq
MIRT875347	hsa-miR-648	CLIP-seq
MIRT875348	hsa-miR-940	CLIP-seq
MIRT875312	hsa-miR-10a	CLIP-seq
MIRT875313	hsa-miR-10b	CLIP-seq
MIRT875319	hsa-miR-339-5p	CLIP-seq
MIRT875322	hsa-miR-3934	CLIP-seq
MIRT875324	hsa-miR-4421	CLIP-seq
MIRT875329	hsa-miR-4536	CLIP-seq
MIRT875332	hsa-miR-4662a-5p	CLIP-seq
MIRT875333	hsa-miR-4676-5p	CLIP-seq
MIRT875334	hsa-miR-4684-5p	CLIP-seq
MIRT875337	hsa-miR-4722-5p	CLIP-seq
MIRT875338	hsa-miR-4768-3p	CLIP-seq
MIRT2446600	hsa-miR-548c-3p	CLIP-seq
MIRT875341	hsa-miR-548p	CLIP-seq
MIRT875344	hsa-miR-575	CLIP-seq
MIRT875346	hsa-miR-593	CLIP-seq
MIRT875348	hsa-miR-940	CLIP-seq

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Transcription factor	Regulation	Reference
NFATC1	Activation	15879122;16219537
NFATC1	Repression	15879122
NFATC2	Repression	15879122;16219537
NFKB1	Activation	16219537

Show/Hide all (39)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002250	Process	Adaptive immune response	IEA
GO:0002250	Process	Adaptive immune response	NAS	29789755, 30976362
GO:0002376	Process	Immune system process	IEA
GO:0004888	Function	Transmembrane signaling receptor activity	IBA
GO:0004888	Function	Transmembrane signaling receptor activity	IC	9485181
GO:0004888	Function	Transmembrane signaling receptor activity	IEA
GO:0004888	Function	Transmembrane signaling receptor activity	IMP	12794121
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA	31461748
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	NAS	9485181, 30976362
GO:0005886	Component	Plasma membrane	TAS
GO:0007163	Process	Establishment or maintenance of cell polarity	IMP	12407027
GO:0007166	Process	Cell surface receptor signaling pathway	IBA
GO:0007166	Process	Cell surface receptor signaling pathway	IC	9485181
GO:0007166	Process	Cell surface receptor signaling pathway	IEA
GO:0007166	Process	Cell surface receptor signaling pathway	IMP	12407027
GO:0009897	Component	External side of plasma membrane	IBA
GO:0015031	Process	Protein transport	IMP	12794121
GO:0016020	Component	Membrane	IEA
GO:0030159	Function	Signaling receptor complex adaptor activity	NAS	12794121
GO:0030669	Component	Clathrin-coated endocytic vesicle membrane	TAS
GO:0042105	Component	Alpha-beta T cell receptor complex	IBA
GO:0042105	Component	Alpha-beta T cell receptor complex	IDA	9485181
GO:0042105	Component	Alpha-beta T cell receptor complex	IEA
GO:0042105	Component	Alpha-beta T cell receptor complex	IPI	31461748
GO:0042105	Component	Alpha-beta T cell receptor complex	ISS
GO:0042106	Component	Gamma-delta T cell receptor complex	NAS	16418397
GO:0042110	Process	T cell activation	NAS	12407027
GO:0042608	Function	T cell receptor binding	NAS	11186279
GO:0042802	Function	Identical protein binding	IDA	14967045
GO:0045059	Process	Positive thymic T cell selection	IBA
GO:0046629	Process	Gamma-delta T cell activation	NAS	30976362
GO:0046631	Process	Alpha-beta T cell activation	NAS	29789755
GO:0050852	Process	T cell receptor signaling pathway	NAS	29789755, 30976362
GO:0065003	Process	Protein-containing complex assembly	NAS	12794121
GO:0070228	Process	Regulation of lymphocyte apoptotic process	IMP	12407027

MIM	HGNC	e!Ensembl
186740	1675	ENSG00000160654

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
MIGFLTEDKKKWNLGSNAKDPRGMYQCKGSQNKSKPLQVYYRMCQNCIELNAATISGFLF
AEIVSIFVLAVGVYFIAGQDGVRQSRASDKQTLLPNDQLYQPLKDREDDQYSHLQGNQLR
RN

Sequence length

182

Interactions

View interactions

	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

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)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Combined immunodeficiency due to CD3gamma deficiency	Pathogenic; Likely pathogenic	rs2134069699, rs199676861, rs2134068305, rs201529449, rs1440888766, rs2496901413, rs2496908575, rs104894199, rs483352927, rs1948388503, rs570768621, rs1948335884	RCV001382623 RCV000087023 RCV001994521 RCV001956130 RCV002721314 View all (8 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Severe combined immunodeficiency disease	Likely pathogenic; Pathogenic	rs1948391148, rs1948418139, rs570768621	RCV002266218 RCV002281890 RCV002282292 RCV002271572	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CD3G-related disorder	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 17	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Immunodeficiency due to defect in CD3-gamma	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE COMBINED IMMUNODEFICIENCY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

CD3G (CD3 gamma subunit of T-cell receptor complex)