Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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5336
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Phospholipase C gamma 2 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
PLCG2 |
Synonyms (NCBI Gene)
Gene synonyms aliases
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APLAID, FCAS3, PLC-IV, PLC-gamma-2 |
Disease Acronyms (UniProt)
Disease acronyms from UniProt database
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APLAID, FCAS3 |
Chromosome
Chromosome number
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16 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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16q23.3 |
Summary
Summary of gene provided in NCBI Entrez Gene.
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The protein encoded by this gene is a transmembrane signaling enzyme that catalyzes the conversion of 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate to 1D-myo-inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) using calcium as a cofactor. IP3 an |
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Alzheimer disease |
Familial Alzheimer Disease (FAD), Alzheimer Disease, Late Onset, Alzheimer Disease, Early Onset, Alzheimer`s Disease, Alzheimer`s Disease, Focal Onset |
rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039, rs63750973, rs63749810, rs63750643, rs193922916, rs63750306, rs63750590, rs63750526, rs63751235, rs661, rs63751037, rs63749885, rs63750231, rs63751229, rs63751272, rs63751223, rs63750391, rs63751163, rs281875357, rs63751141, rs63750082, rs121917807, rs63751399, rs63750265, rs63751144, rs63750886, rs63751068, rs121917808, rs63749891, rs63750083, rs63749824, rs63750577, rs267606983, rs63750218, rs63751287, rs63750900, rs63751475, rs63750450, rs63749805, rs63751278, rs63751106, rs63750004, rs63749806, rs63751024, rs63750248, rs63750779, rs63751139, rs63750219, rs63750298, rs63750687, rs63750851, rs1553268799, rs1561901881, rs1561905293, rs866101707, rs1566638673, rs63750009, rs1566656702, rs1566657804, rs1567885728, rs1568339995, rs1566630791, rs1555358260, rs63750964, rs1594998354, rs63751316 View all (65 more) |
28714976 |
Autoinflammation, antibody deficiency, and immune dysregulation |
AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation |
rs397514562 |
23000145, 22236196, 29538758 |
Autoinflammatory disease |
Autoinflammatory disorder |
rs777759523, rs121434352, rs28940578, rs28940580, rs121908146, rs121908148, rs121908150, rs80338807, rs121908679, rs104895319, rs104894176, rs28933973, rs28933376, rs137854447, rs61736587, rs148755083, rs104895093, rs104895311, rs104895364, rs104895352, rs104895271, rs104895238, rs151344629, rs180177431, rs376785840, rs587777241, rs77563738, rs202134424, rs864321625, rs864321682, rs864321626, rs864321684, rs864321685, rs869312838, rs869312953, rs766657895, rs140148806, rs753966933, rs764196809, rs200956636, rs147035858, rs1274685768, rs1600700389, rs1776278098, rs754904956, rs1760720617, rs1760720924 View all (32 more) |
29538758 |
Cold autoinflammatory syndrome |
FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, Familial Cold Autoinflammatory Syndrome 1 |
rs121908146, rs121908148, rs121908149, rs121908150, rs121908151, rs121908152, rs121908153, rs121908154, rs28937896, rs151344629, rs180177503, rs180177437, rs180177445, rs180177433, rs180177430, rs180177478, rs180177458, rs104895389, rs180177491, rs180177438, rs180177435, rs180177469, rs180177473, rs180177452, rs180177449, rs104895392, rs180177476, rs180177441, rs180177447, rs180177484, rs180177431, rs180177468, rs180177470, rs180177456, rs606231460, rs147080557, rs1404302953, rs1302931500, rs1599842537 View all (24 more) |
22236196, 29538758, 23000145 |
Coronary artery disease |
Coronary Artery Disease |
rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs1555800701, rs1215189537 |
29212778 |
Inflammatory bowel disease |
Inflammatory Bowel Diseases |
rs137853579, rs137853580, rs121909601, rs149491038, rs368287711, rs387907326, rs587777338, rs758439420, rs1329427406, rs1264862631, rs1192830343, rs1373354533, rs1419560997, rs1591263883, rs1989014468 |
28067908 |
Leukemia |
Leukemia, Myelocytic, Acute |
rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297 |
27903959 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Breast cancer |
Breast cancer |
Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients |
|
GWAS, CBGDA |
Takayasu Arteritis |
Takayasu Arteritis |
|
|
GWAS |
Myocardial Infarction |
Myocardial Infarction |
|
|
GWAS |
Ulcerative colitis |
Ulcerative colitis |
|
|
GWAS |
Inflammatory Bowel Disease |
Inflammatory Bowel Disease |
|
|
GWAS |
Colorectal Cancer |
Colorectal Cancer |
In summary, our data strongly demonstrated that upregulation of GRB7 conferred MEKi resistance in CRC cells with KRAS mutations by mediating RTK signaling through the recruitment of PLK1. |
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GWAS, CBGDA |
Ischemic Stroke |
Ischemic Stroke |
|
|
GWAS |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
AA amyloidosis |
Associate
|
32166339, 32894242 |
Achondroplasia and Swiss type agammaglobulinemia |
Inhibit
|
9778529 |
Adenocarcinoma |
Associate
|
32509861 |
Adjustment Disorders |
Associate
|
31853824 |
Agammaglobulinemia |
Associate
|
32671674 |
Alzheimer Disease |
Associate
|
28714976, 30258121, 30326945, 31131421, 32166339, 32894242, 33092647, 33239300, 34099642, 34615897, 35895133, 36530083, 36933698, 40528303 |
Alzheimer Disease |
Inhibit
|
33092647 |
Amyotrophic Lateral Sclerosis |
Associate
|
31131421 |
Anovulation |
Associate
|
40287692 |
Aortic Aneurysm Abdominal |
Associate
|
25993291 |
Arthritis Psoriatic |
Associate
|
36113963 |
Asthma |
Associate
|
32186396 |
Autism Spectrum Disorder |
Associate
|
35773312 |
Autoimmune Diseases |
Associate
|
22236196, 36933698 |
Blood Platelet Disorders |
Associate
|
20525309, 29436605, 31163690, 31889510 |
Breast Neoplasms |
Associate
|
24080446 |
Burkitt Lymphoma |
Associate
|
28465297 |
Carcinoma Basal Cell |
Stimulate
|
36253891 |
Carcinoma Non Small Cell Lung |
Associate
|
32965722, 37074454 |
Carcinoma Non Small Cell Lung |
Stimulate
|
37031207 |
Carcinoma Renal Cell |
Associate
|
35276058, 36530957 |
Clinical Deterioration |
Associate
|
37314786 |
Cognition Disorders |
Associate
|
32166339, 36530083, 36933698 |
Common Variable Immunodeficiency |
Associate
|
31853824, 32047491, 33859323 |
Cryopyrin Associated Periodic Syndromes |
Associate
|
22236196, 25760457, 30619256 |
Cutis Laxa |
Associate
|
30619256 |
Dementia |
Associate
|
31131421 |
Diabetes Mellitus Type 1 |
Associate
|
22344559 |
Disease Progression |
Associate
|
37314786, 37955424 |
Frontotemporal Dementia |
Associate
|
31131421 |
Gastrointestinal Stromal Tumors |
Associate
|
37616163 |
Genetic Diseases Inborn |
Associate
|
36113963 |
Genetic Predisposition to Disease |
Associate
|
30508305 |
Graves Ophthalmopathy |
Stimulate
|
37989267 |
Hemolytic Uremic Syndrome |
Associate
|
36033826 |
Hereditary Autoinflammatory Diseases |
Associate
|
23000145, 25418813, 32671674, 33042144, 36113963 |
Hodgkin Disease |
Associate
|
12881301, 28791394 |
Humoral Hypercalcemia Of Malignancy |
Associate
|
32671674 |
Immunologic Deficiency Syndromes |
Associate
|
22236196, 23000145, 32671674 |
Inflammation |
Associate
|
23000145, 31853824, 31889510, 36070248, 38061598 |
Inflammatory Bowel Diseases |
Associate
|
36113963 |
Laryngeal Neoplasms |
Associate
|
36033826 |
Leukemia Lymphocytic Chronic B Cell |
Associate
|
15728130, 24489640, 24869598, 28049639, 28212557, 28418267, 29122990, 29259203, 30508305, 31243043, 34778802, 36567979, 36696464, 37227160, 37314786, 37523714, 38055246 View all (2 more) |
Leukemia Myelogenous Chronic BCR ABL Positive |
Associate
|
23719297 |
Leukemia Prolymphocytic |
Associate
|
28049639 |
Lewy Body Disease |
Associate
|
30326945, 31131421, 33092647 |
Lung Neoplasms |
Associate
|
37031207 |
Lupus Erythematosus Systemic |
Associate
|
36180106 |
Lymphoma Follicular |
Associate
|
36994552 |
Lymphoma T Cell |
Associate
|
36567979 |
Macular Degeneration |
Associate
|
31560769, 32631374 |
Meningococcal Infections |
Associate
|
36033826 |
Mental Disorders |
Associate
|
35773312 |
Multiple System Atrophy |
Associate
|
30326945 |
Myelodysplastic Syndromes |
Associate
|
30787430 |
Myoclonic dystonia |
Associate
|
35773312 |
Neoplasm Metastasis |
Associate
|
37031207 |
Neoplasms |
Associate
|
12881301, 31889510, 32047491, 33725976, 36933698 |
Nephrotic Syndrome |
Associate
|
25349203 |
Neurodegenerative Diseases |
Associate
|
30326945, 31131421, 38061598 |
Obesity |
Associate
|
30658193 |
Ovarian Neoplasms |
Associate
|
35120576 |
Pediatric acute onset neuropsychiatric syndrome |
Associate
|
35773312 |
Polycystic Ovary Syndrome |
Associate
|
33224973, 37226082, 40287692 |
Sarcoma |
Associate
|
33725976 |
Skin Manifestations |
Associate
|
25760457 |
Small Cell Lung Carcinoma |
Associate
|
34653364 |
Spondylitis Ankylosing |
Associate
|
38223749 |
Stomach Neoplasms |
Associate
|
14606067 |
Supranuclear Palsy Progressive |
Associate
|
30326945, 33092647 |
Tauopathies |
Associate
|
30326945 |
Thyroiditis Autoimmune |
Associate
|
22236196 |
Urticaria |
Associate
|
23000145 |
Venous Thromboembolism |
Associate
|
31420334, 37537391 |
Waldenstrom Macroglobulinemia |
Associate
|
30402490 |
|