PLCG2 Chromosome 16
Phospholipase C gamma 2
Upload your DNA to see your personal genotypes for variants in PLCG2.
What This Gene Does
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 and DAG are second messenger molecules important for transmitting signals from growth factor receptors and immune system receptors across the cell membrane. Mutations in this gene have been found in autoinflammation, antibody deficiency, and immune dysregulation syndrome and familial cold autoinflammatory syndrome 3. [provided by RefSeq, Mar 2014]
Gene Info
Gene Group
"Phospholipases|SH2 domain containing|C2 domain containing phospholipases"
Locus Type
gene with protein product
Location
16q24.1
Ensembl
ENSG00000197943
Associated Conditions (5)
Familial cold autoinflammatory syndrome 3
PLCG2-related disorder
Inborn genetic diseases
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
Acute myeloid leukemia
Key Variants
RS1032603937
Conflicting classifications of pathogenicity
Familial cold autoinflammatory syndrome 3, PLCG2-related disorder, Familial cold autoinflammatory syndrome 3
Health Risk
RS151013036
Conflicting classifications of pathogenicity
Familial cold autoinflammatory syndrome 3, Inborn genetic diseases, PLCG2-related disorder
Health Risk
RS186829827
Conflicting classifications of pathogenicity
Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3
Health Risk
RS187956469
Conflicting classifications of pathogenicity
Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3
Health Risk
RS189301790
Conflicting classifications of pathogenicity
Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3
Health Risk
RS199636472
Conflicting classifications of pathogenicity
Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3
Health Risk
RS199840870
Conflicting classifications of pathogenicity
Familial cold autoinflammatory syndrome 3, PLCG2-related disorder, Familial cold autoinflammatory syndrome 3
Health Risk
RS200149635
Conflicting classifications of pathogenicity
Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3
Health Risk
RS200981336
Conflicting classifications of pathogenicity
Familial cold autoinflammatory syndrome 3, PLCG2-related disorder, Familial cold autoinflammatory syndrome 3
Health Risk
RS202108152
Conflicting classifications of pathogenicity
Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3
Health Risk
RS367678289
Conflicting classifications of pathogenicity
Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3
Health Risk
RS367866295
Conflicting classifications of pathogenicity
Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, PLCG2-related disorder
Health Risk
All Variants (40)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1032603937 | Health Risk | Conflicting classifications of pathogenicity | Familial cold autoinflammatory syndrome 3, PLCG2-related disorder, Familial cold autoinflammatory syndrome 3 |
| RS151013036 | Health Risk | Conflicting classifications of pathogenicity | Familial cold autoinflammatory syndrome 3, Inborn genetic diseases, PLCG2-related disorder |
| RS186829827 | Health Risk | Conflicting classifications of pathogenicity | Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3 |
| RS187956469 | Health Risk | Conflicting classifications of pathogenicity | Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3 |
| RS189301790 | Health Risk | Conflicting classifications of pathogenicity | Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3 |
| RS199636472 | Health Risk | Conflicting classifications of pathogenicity | Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3 |
| RS199840870 | Health Risk | Conflicting classifications of pathogenicity | Familial cold autoinflammatory syndrome 3, PLCG2-related disorder, Familial cold autoinflammatory syndrome 3 |
| RS200149635 | Health Risk | Conflicting classifications of pathogenicity | Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3 |
| RS200981336 | Health Risk | Conflicting classifications of pathogenicity | Familial cold autoinflammatory syndrome 3, PLCG2-related disorder, Familial cold autoinflammatory syndrome 3 |
| RS202108152 | Health Risk | Conflicting classifications of pathogenicity | Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3 |
| RS367678289 | Health Risk | Conflicting classifications of pathogenicity | Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3 |
| RS367866295 | Health Risk | Conflicting classifications of pathogenicity | Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, PLCG2-related disorder |
| RS368933697 | Health Risk | Conflicting classifications of pathogenicity | Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3 |
| RS370532346 | Health Risk | Conflicting classifications of pathogenicity | Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3 |
| RS372502550 | Health Risk | Conflicting classifications of pathogenicity | Familial cold autoinflammatory syndrome 3, Inborn genetic diseases, Familial cold autoinflammatory syndrome 3 |
| RS372557475 | Health Risk | Conflicting classifications of pathogenicity | Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation |
| RS372606303 | Health Risk | Conflicting classifications of pathogenicity | Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Inborn genetic diseases |
| RS374768937 | Health Risk | Conflicting classifications of pathogenicity | Familial cold autoinflammatory syndrome 3, Inborn genetic diseases, Familial cold autoinflammatory syndrome 3 |
| RS554363067 | Health Risk | Conflicting classifications of pathogenicity | Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Inborn genetic diseases |
| RS564767670 | Health Risk | Conflicting classifications of pathogenicity | Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation |
| RS61755444 | Health Risk | Conflicting classifications of pathogenicity | Familial cold autoinflammatory syndrome 3, Acute myeloid leukemia, Familial cold autoinflammatory syndrome 3 |
| RS752647511 | Health Risk | Conflicting classifications of pathogenicity | Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3 |
| RS753974933 | Health Risk | Conflicting classifications of pathogenicity | Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3 |
| RS754914807 | Health Risk | Conflicting classifications of pathogenicity | Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Inborn genetic diseases |
| RS759929786 | Health Risk | Conflicting classifications of pathogenicity | Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3 |
| RS761797236 | Health Risk | Conflicting classifications of pathogenicity | Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3 |
| RS763166039 | Health Risk | Conflicting classifications of pathogenicity | Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3 |
| RS764040645 | Health Risk | Conflicting classifications of pathogenicity | Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3 |
| RS767593863 | Health Risk | Conflicting classifications of pathogenicity | Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3 |
| RS773040139 | Health Risk | Conflicting classifications of pathogenicity | Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3 |
| RS773778524 | Health Risk | Conflicting classifications of pathogenicity | Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3 |
| RS776050949 | Health Risk | Conflicting classifications of pathogenicity | Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3 |
| RS776770937 | Health Risk | Conflicting classifications of pathogenicity | Familial cold autoinflammatory syndrome 3, PLCG2-related disorder, Familial cold autoinflammatory syndrome 3 |
| RS2143682648 | Health Risk | Likely pathogenic | Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation |
| RS2143705605 | Health Risk | Likely pathogenic | Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation |
| RS746749620 | Health Risk | Likely pathogenic | Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3 |
| RS753618006 | Health Risk | Likely pathogenic | Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3 |
| RS769393894 | Health Risk | Likely pathogenic | — |
| RS1381167403 | Health Risk | Pathogenic | Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3 |
| RS397514562 | Health Risk | Pathogenic | Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation |