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

Gene

• Entrez ID: 917
• Gene name: CD3 gamma subunit of T-cell receptor complex
• Gene symbol: CD3G
• Synonyms: CD3-GAMMA, CD3GAMMA, IMD17, T3G
• 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

SNPs

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

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
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

Transcription factors

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

Gene ontology (GO)

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
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	NAS	9485181
GO:0007163	Process	Establishment or maintenance of cell polarity	IMP	12407027
GO:0007166	Process	Cell surface receptor signaling pathway	IBA	21873635
GO:0007166	Process	Cell surface receptor signaling pathway	IMP	12407027
GO:0009897	Component	External side of plasma membrane	IBA	21873635
GO:0015031	Process	Protein transport	IMP	12794121
GO:0030159	Function	Signaling receptor complex adaptor activity	NAS	12794121
GO:0030665	Component	Clathrin-coated vesicle membrane	TAS
GO:0038096	Process	Fc-gamma receptor signaling pathway involved in phagocytosis	TAS
GO:0042101	Component	T cell receptor complex	NAS	9485181
GO:0042105	Component	Alpha-beta T cell receptor complex	IBA	21873635
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	21873635
GO:0046982	Function	Protein heterodimerization activity	IPI	9485181
GO:0050776	Process	Regulation of immune response	TAS
GO:0050852	Process	T cell receptor signaling pathway	TAS
GO:0061024	Process	Membrane organization	TAS
GO:0065003	Process	Protein-containing complex assembly	NAS	12794121
GO:0070228	Process	Regulation of lymphocyte apoptotic process	IMP	12407027

Other IDs

• MIM: 186740
• HGNC: 1675
• e!Ensembl: 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
  MIGFLTEDKKKWNLGSNAKDPRGMYQCKGSQNKSKPLQVYYRMCQNCIELNAATISGFLF
  AEIVSIFVLAVGVYFIAGQDGVRQSRASDKQTLLPNDQLYQPLKDREDDQYSHLQGNQLR
  RN

• Sequence length: 182

Pathways

KEGG:

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

Reactome:

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

Causal
Disease name	Disease term	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, rs483352928, rs121918659, rs111033580, rs111033581, rs74315290, rs193922740, rs193922741, rs104894199, rs483352927, rs104894286, rs1571865049, rs886041032, rs2069709, rs587776822, rs74315444, rs587776823, rs1315265916, rs104893893, rs104893894, rs121434560, rs387906572, rs587776853, rs104893973, rs587776854, rs587776855, rs587776857, rs104893974, rs121912715, rs1393707607, rs113994136, rs387906593, rs587776870, rs387906763, rs387906913, rs199469663, rs199469662, rs199469664, rs193922640, rs193922641, rs193922645, rs398122890, rs387907316, rs397514710, rs398122383, rs397515453, rs397514332, rs398123058, rs397518423, rs587777075, rs199676861, rs77563738, rs587777337, rs28730670, rs587777389, rs587777390, rs587777413, rs587777414, rs587777415, rs587777416, rs267608260, rs267608261, rs587778405, rs587777446, rs587777562, rs587777564, rs587777565, rs869320745, rs587777709, rs606231305, rs672601318, rs727503779, rs727503780, rs730880296, rs786200953, rs375323253, rs794729666, rs886041037, rs886041038, rs796051887, rs796051888, rs749956849, rs199641706, rs775739391, rs869312886, rs869312857, rs879253731, rs879253732, rs201025290, rs770927552, rs878853275, rs878853276, rs878853277, rs878853278, rs1567506566, rs886037920, rs886037921, rs750610248, rs200044623, rs886043118, rs886060531, rs1057519074, rs1057519075, rs1057518744, rs1057519079, rs1057518745, rs1057518746, rs1057518747, rs782178147, rs55729925, rs1064795762, rs1064794957, rs1085307649, rs745463649, rs773694113, rs1192554889, rs779575307, rs1554051075, rs1554051067, rs1554051033, rs1554067182, rs1555167566, rs1555169270, rs1555908409, rs1555719963, rs1554064929, rs768091235, rs1404084330, rs144104577, rs1553238837, rs1553243550, rs1554020278, rs1554066684, rs762678772, rs570768621, rs1443126481, rs1553721236, rs121434258, rs888230251, rs1759915032, rs1759514836, rs138156467, rs1560914625, rs755373718, rs1561423197, rs1560938296, rs200803157, rs766555082, rs201543770, rs114951157, rs775578531, rs201128237, rs778624945, rs1563340753, rs1561772403, rs1484948342, rs777878144, rs1562364898, rs1561254290, rs1569296295, rs1568815169, rs1568822574, rs1571880832, rs934523851, rs1922072844, rs1266114717, rs137869655, rs869320689, rs1571880941, rs1580875488, rs1581303476, rs1448018291, rs1390410878, rs774803573, rs1591278347, rs1602300615, rs1601340933, rs757598952, rs1181595292, rs1408683294, rs1595843113, rs1595848141, rs779560450, rs1595816926, rs1601861196, rs1601861199, rs756541321, rs1594389703, rs1594390415, rs1581401865, rs1236009877, rs753213766, rs778993919, rs1602878106, rs141698985, rs1264504989, rs1580974401, rs2093571190, rs530286781, rs2086875746, rs2089298923, rs1206185362, rs1581573705, rs1596718225, rs1004337827, rs1573613529, rs1574636674, rs1574657735, rs1574657762, rs1574672718, rs1581573640, rs1553657429, rs200666300, rs1578735747, rs1578771211, rs1578793312, rs1578795536, rs1578809101, rs1578811073, rs1578811245, rs1171694504, rs1578971328, rs140800288, rs374333820, rs1584926133, rs1585040113, rs1584409386, rs1379376784, rs1586940273, rs1587143342, rs748910652, rs1592117677, rs758555433, rs1596712783, rs34019455, rs147766868, rs751386365, rs1600631294, rs1489114116, rs1057520578, rs1603007888, rs1603008329, rs1574450161, rs1578735709, rs1403833564, rs1580262965, rs570910902, rs1589866171, rs1578999313, rs1582635229, rs1582637044, rs1580851910, rs1750760771, rs745453685, rs1249197356, rs201840561, rs1940921909, rs1941410085, rs1941465194, rs1321690789, rs1302362911, rs1730552437, rs2052705192, rs1941856970	24910257, 17277165
Severe combined immunodeficiency disease	Combined immunodeficiency	rs886037607, rs118203993, rs121908714, rs121908739, rs121908740, rs121908735, rs121908721, rs121908722, rs121908156, rs1564414523, rs1564418254, rs1564446526, rs786205074, rs121908157, rs121908159, rs786200884, rs397515357, rs104894562, rs137852624, rs137852625, rs137852626, rs137852627, rs137852507, rs137852509, rs111033619, rs111033620, rs1569480018, rs111033621, rs137852510, rs587776729, rs111033622, rs111033617, rs111033618, rs121917894, rs121917896, rs2133313409, rs121917897, rs28933392, rs104894282, rs104894283, rs104894285, rs121918570, rs121918572, rs730880318, rs104893674, rs730880319, rs104894453, rs104894454, rs104894451, rs137853206, rs777503956, rs267606645, rs267606648, rs397515390, rs193922346, rs193922347, rs193922348, rs193922349, rs193922350, rs137852508, rs193922640, rs193922641, rs193922643, rs193922645, rs193922361, rs193922364, rs193922464, rs148508754, rs193922574, rs113994174, rs606231246, rs397514671, rs397514686, rs397514755, rs199474679, rs199474685, rs199474686, rs199474681, rs150739647, rs267605358, rs886041036, rs587777335, rs587778405, rs145092287, rs587777562, rs606231256, rs200296680, rs786205456, rs786205517, rs774202259, rs786205615, rs878853261, rs786205890, rs782753385, rs746052951, rs869025224, rs869312857, rs869320660, rs869320659, rs869320658, rs879253742, rs886037924, rs886037925, rs750610248, rs886039394, rs761242509, rs886039387, rs886041043, rs886041044, rs886042051, rs886041333, rs749481781, rs1057517747, rs1057519506, rs1057523762, rs1057521062, rs1057520644, rs761583890, rs751635016, rs55729925, rs1064793248, rs1064793347, rs1064794027, rs781410769, rs1555524788, rs1486760100, rs769633203, rs1556330713, rs1555322558, rs1556330234, rs1556330755, rs1556329779, rs1556330552, rs1556329822, rs1556330286, rs1556331272, rs2146178281, rs376610445, rs757797994, rs775704953, rs1555743321, rs1564995660, rs1564995662, rs1556330249, rs144104577, rs886041796, rs1026474882, rs570768621, rs1556330562, rs1556330568, rs780014431, rs778343059, rs1555844617, rs1567629968, rs1567628757, rs1567629943, rs1567632864, rs1567632829, rs1567626023, rs1559328006, rs1561423197, rs1452483770, rs1568400897, rs1569479913, rs1568404443, rs1569480047, rs1563340753, rs368303189, rs1568431262, rs1568431102, rs1561424886, rs1602289943, rs1241698978, rs1569479994, rs1569480082, rs1602289649, rs1573261820, rs770985198, rs1589050343, rs1340132582, rs1589064324, rs1589070600, rs1213680890, rs149316157, rs1599873591, rs755706305, rs1602288051, rs1602289411, rs1602289183, rs1583513256, rs1589136659, rs1380154594, rs1011307501, rs1599876167, rs1569967422, rs1602289631, rs1573262398, rs760191638, rs1592117677, rs1640406042, rs372597855, rs1839558393, rs1839622622, rs1839957089, rs777008519, rs1233957241, rs2092261618, rs1839255008, rs1677695565, rs936493226, rs1162344514, rs991089005	17277165

Unknown
Disease name	Disease term	dbSNP ID	References
Eczema	Eczema
Immunologic deficiency syndromes	Immunologic Deficiency Syndromes
Otitis media	Recurrent otitis media	rs601338, rs1047781, rs1800028