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PLCG2 (phospholipase C gamma 2)

Gene

Phospholipase C gamma 2

PLCG2

APLAID, FCAS3, PLC-IV, PLC-gamma-2

16

16q23.3

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]

Show/Hide all(4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs189301790	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs397514562	C>A	Pathogenic	Missense variant, coding sequence variant
rs1057519831	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1057519832	A>C,G,T	Likely-pathogenic	Coding sequence variant, missense variant, synonymous variant

Show/Hide all(254)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019144	hsa-miR-335-5p	Microarray	18185580
MIRT499372	hsa-miR-6819-5p	PAR-CLIP	24398324
MIRT499372	hsa-miR-6819-5p	PAR-CLIP	23446348
MIRT499372	hsa-miR-6819-5p	PAR-CLIP	22012620
MIRT499372	hsa-miR-6819-5p	PAR-CLIP	20371350
MIRT499372	hsa-miR-6819-5p	HITS-CLIP	24906430
MIRT499372	hsa-miR-6819-5p	PAR-CLIP	26701625
MIRT499372	hsa-miR-6819-5p	PAR-CLIP	27292025
MIRT499372	hsa-miR-6819-5p	HITS-CLIP	27418678
MIRT499373	hsa-miR-6812-5p	PAR-CLIP	24398324
MIRT499373	hsa-miR-6812-5p	PAR-CLIP	23446348
MIRT499373	hsa-miR-6812-5p	PAR-CLIP	22012620
MIRT499373	hsa-miR-6812-5p	PAR-CLIP	20371350
MIRT499373	hsa-miR-6812-5p	HITS-CLIP	24906430
MIRT499373	hsa-miR-6812-5p	PAR-CLIP	26701625
MIRT499373	hsa-miR-6812-5p	PAR-CLIP	27292025
MIRT499373	hsa-miR-6812-5p	HITS-CLIP	27418678
MIRT499374	hsa-miR-6737-5p	PAR-CLIP	24398324
MIRT499374	hsa-miR-6737-5p	PAR-CLIP	23446348
MIRT499374	hsa-miR-6737-5p	PAR-CLIP	22012620
MIRT499374	hsa-miR-6737-5p	PAR-CLIP	20371350
MIRT499374	hsa-miR-6737-5p	HITS-CLIP	24906430
MIRT499374	hsa-miR-6737-5p	PAR-CLIP	26701625
MIRT499374	hsa-miR-6737-5p	PAR-CLIP	27292025
MIRT499374	hsa-miR-6737-5p	HITS-CLIP	27418678
MIRT499375	hsa-miR-6771-5p	PAR-CLIP	24398324
MIRT499375	hsa-miR-6771-5p	PAR-CLIP	23446348
MIRT499376	hsa-miR-425-3p	PAR-CLIP	24398324
MIRT499376	hsa-miR-425-3p	PAR-CLIP	23446348
MIRT499377	hsa-miR-6726-3p	PAR-CLIP	24398324
MIRT499377	hsa-miR-6726-3p	PAR-CLIP	23446348
MIRT499377	hsa-miR-6726-3p	PAR-CLIP	22012620
MIRT499377	hsa-miR-6726-3p	PAR-CLIP	20371350
MIRT499377	hsa-miR-6726-3p	HITS-CLIP	24906430
MIRT499377	hsa-miR-6726-3p	PAR-CLIP	26701625
MIRT499377	hsa-miR-6726-3p	PAR-CLIP	27292025
MIRT499377	hsa-miR-6726-3p	HITS-CLIP	27418678
MIRT499378	hsa-miR-1294	PAR-CLIP	24398324
MIRT499378	hsa-miR-1294	PAR-CLIP	23446348
MIRT499379	hsa-miR-542-3p	PAR-CLIP	24398324
MIRT499379	hsa-miR-542-3p	PAR-CLIP	23446348
MIRT499379	hsa-miR-542-3p	PAR-CLIP	22012620
MIRT499379	hsa-miR-542-3p	PAR-CLIP	20371350
MIRT499379	hsa-miR-542-3p	HITS-CLIP	24906430
MIRT499379	hsa-miR-542-3p	PAR-CLIP	26701625
MIRT499379	hsa-miR-542-3p	PAR-CLIP	27292025
MIRT499379	hsa-miR-542-3p	HITS-CLIP	27418678
MIRT499380	hsa-miR-8065	PAR-CLIP	24398324
MIRT499380	hsa-miR-8065	PAR-CLIP	23446348
MIRT499381	hsa-miR-4710	PAR-CLIP	24398324
MIRT499381	hsa-miR-4710	PAR-CLIP	23446348
MIRT499382	hsa-miR-6747-5p	PAR-CLIP	24398324
MIRT499382	hsa-miR-6747-5p	PAR-CLIP	23446348
MIRT499382	hsa-miR-6747-5p	PAR-CLIP	22012620
MIRT499382	hsa-miR-6747-5p	PAR-CLIP	20371350
MIRT499382	hsa-miR-6747-5p	HITS-CLIP	24906430
MIRT499382	hsa-miR-6747-5p	PAR-CLIP	26701625
MIRT499382	hsa-miR-6747-5p	PAR-CLIP	27292025
MIRT499382	hsa-miR-6747-5p	HITS-CLIP	27418678
MIRT499383	hsa-miR-608	PAR-CLIP	24398324
MIRT499383	hsa-miR-608	PAR-CLIP	23446348
MIRT499383	hsa-miR-608	PAR-CLIP	22012620
MIRT499383	hsa-miR-608	PAR-CLIP	20371350
MIRT499383	hsa-miR-608	HITS-CLIP	24906430
MIRT499383	hsa-miR-608	PAR-CLIP	26701625
MIRT499383	hsa-miR-608	PAR-CLIP	27292025
MIRT499383	hsa-miR-608	HITS-CLIP	27418678
MIRT499384	hsa-miR-4651	PAR-CLIP	24398324
MIRT499384	hsa-miR-4651	PAR-CLIP	23446348
MIRT499384	hsa-miR-4651	PAR-CLIP	22012620
MIRT499384	hsa-miR-4651	PAR-CLIP	20371350
MIRT499384	hsa-miR-4651	HITS-CLIP	24906430
MIRT499384	hsa-miR-4651	PAR-CLIP	26701625
MIRT499384	hsa-miR-4651	PAR-CLIP	27292025
MIRT499384	hsa-miR-4651	HITS-CLIP	27418678
MIRT499385	hsa-miR-4664-5p	PAR-CLIP	24398324
MIRT499385	hsa-miR-4664-5p	PAR-CLIP	23446348
MIRT499385	hsa-miR-4664-5p	PAR-CLIP	22012620
MIRT499385	hsa-miR-4664-5p	PAR-CLIP	20371350
MIRT499385	hsa-miR-4664-5p	HITS-CLIP	24906430
MIRT499385	hsa-miR-4664-5p	PAR-CLIP	26701625
MIRT499385	hsa-miR-4664-5p	PAR-CLIP	27292025
MIRT499385	hsa-miR-4664-5p	HITS-CLIP	27418678
MIRT499386	hsa-miR-342-5p	PAR-CLIP	24398324
MIRT499386	hsa-miR-342-5p	PAR-CLIP	23446348
MIRT499386	hsa-miR-342-5p	PAR-CLIP	22012620
MIRT499386	hsa-miR-342-5p	PAR-CLIP	20371350
MIRT499386	hsa-miR-342-5p	HITS-CLIP	24906430
MIRT499386	hsa-miR-342-5p	PAR-CLIP	26701625
MIRT499386	hsa-miR-342-5p	PAR-CLIP	27292025
MIRT499386	hsa-miR-342-5p	HITS-CLIP	27418678
MIRT499387	hsa-miR-6883-5p	PAR-CLIP	24398324
MIRT499387	hsa-miR-6883-5p	PAR-CLIP	23446348
MIRT499388	hsa-miR-6785-5p	PAR-CLIP	24398324
MIRT499388	hsa-miR-6785-5p	PAR-CLIP	23446348
MIRT499389	hsa-miR-4728-5p	PAR-CLIP	24398324
MIRT499389	hsa-miR-4728-5p	PAR-CLIP	23446348
MIRT499390	hsa-miR-149-3p	PAR-CLIP	24398324
MIRT499390	hsa-miR-149-3p	PAR-CLIP	23446348
MIRT499391	hsa-miR-8053	PAR-CLIP	24398324
MIRT499391	hsa-miR-8053	PAR-CLIP	23446348
MIRT499391	hsa-miR-8053	PAR-CLIP	22012620
MIRT499391	hsa-miR-8053	PAR-CLIP	20371350
MIRT499391	hsa-miR-8053	HITS-CLIP	24906430
MIRT499391	hsa-miR-8053	PAR-CLIP	26701625
MIRT499391	hsa-miR-8053	PAR-CLIP	27292025
MIRT499391	hsa-miR-8053	HITS-CLIP	27418678
MIRT499392	hsa-miR-6717-5p	PAR-CLIP	24398324
MIRT499392	hsa-miR-6717-5p	PAR-CLIP	23446348
MIRT499392	hsa-miR-6717-5p	PAR-CLIP	22012620
MIRT499392	hsa-miR-6717-5p	PAR-CLIP	20371350
MIRT499392	hsa-miR-6717-5p	HITS-CLIP	24906430
MIRT499392	hsa-miR-6717-5p	PAR-CLIP	26701625
MIRT499392	hsa-miR-6717-5p	PAR-CLIP	27292025
MIRT499392	hsa-miR-6717-5p	HITS-CLIP	27418678
MIRT499393	hsa-miR-6797-5p	PAR-CLIP	24398324
MIRT499393	hsa-miR-6797-5p	PAR-CLIP	23446348
MIRT499394	hsa-miR-1249-5p	PAR-CLIP	24398324
MIRT499394	hsa-miR-1249-5p	PAR-CLIP	23446348
MIRT499395	hsa-miR-3202	PAR-CLIP	24398324
MIRT499395	hsa-miR-3202	PAR-CLIP	23446348
MIRT499396	hsa-miR-3194-5p	PAR-CLIP	24398324
MIRT499396	hsa-miR-3194-5p	PAR-CLIP	20371350
MIRT499396	hsa-miR-3194-5p	HITS-CLIP	24906430
MIRT499396	hsa-miR-3194-5p	PAR-CLIP	26701625
MIRT499396	hsa-miR-3194-5p	PAR-CLIP	27292025
MIRT499396	hsa-miR-3194-5p	HITS-CLIP	27418678
MIRT499397	hsa-miR-5589-3p	PAR-CLIP	24398324
MIRT499397	hsa-miR-5589-3p	PAR-CLIP	23446348
MIRT499398	hsa-miR-202-3p	PAR-CLIP	24398324
MIRT499398	hsa-miR-202-3p	PAR-CLIP	23446348
MIRT499399	hsa-miR-98-5p	PAR-CLIP	24398324
MIRT499399	hsa-miR-98-5p	PAR-CLIP	23446348
MIRT499400	hsa-miR-4500	PAR-CLIP	24398324
MIRT499400	hsa-miR-4500	PAR-CLIP	23446348
MIRT499401	hsa-miR-4458	PAR-CLIP	24398324
MIRT499401	hsa-miR-4458	PAR-CLIP	23446348
MIRT499402	hsa-let-7i-5p	PAR-CLIP	24398324
MIRT499402	hsa-let-7i-5p	PAR-CLIP	23446348
MIRT499403	hsa-let-7g-5p	PAR-CLIP	24398324
MIRT499403	hsa-let-7g-5p	PAR-CLIP	23446348
MIRT499404	hsa-let-7f-5p	PAR-CLIP	24398324
MIRT499404	hsa-let-7f-5p	PAR-CLIP	23446348
MIRT499405	hsa-let-7e-5p	PAR-CLIP	24398324
MIRT499405	hsa-let-7e-5p	PAR-CLIP	23446348
MIRT499406	hsa-let-7d-5p	PAR-CLIP	24398324
MIRT499406	hsa-let-7d-5p	PAR-CLIP	23446348
MIRT499407	hsa-let-7c-5p	PAR-CLIP	24398324
MIRT499407	hsa-let-7c-5p	PAR-CLIP	23446348
MIRT499408	hsa-let-7b-5p	PAR-CLIP	24398324
MIRT499408	hsa-let-7b-5p	PAR-CLIP	23446348
MIRT499409	hsa-let-7a-5p	PAR-CLIP	24398324
MIRT499409	hsa-let-7a-5p	PAR-CLIP	23446348
MIRT499410	hsa-miR-6875-5p	PAR-CLIP	24398324
MIRT499410	hsa-miR-6875-5p	PAR-CLIP	23446348
MIRT499411	hsa-miR-3126-5p	PAR-CLIP	24398324
MIRT499411	hsa-miR-3126-5p	PAR-CLIP	23446348
MIRT499412	hsa-miR-3179	PAR-CLIP	24398324
MIRT499412	hsa-miR-3179	PAR-CLIP	23446348
MIRT499413	hsa-miR-6746-5p	PAR-CLIP	24398324
MIRT499413	hsa-miR-6746-5p	PAR-CLIP	23446348
MIRT499414	hsa-miR-1249-3p	PAR-CLIP	24398324
MIRT499414	hsa-miR-1249-3p	PAR-CLIP	23446348
MIRT499414	hsa-miR-1249-3p	PAR-CLIP	22012620
MIRT499414	hsa-miR-1249-3p	PAR-CLIP	20371350
MIRT499414	hsa-miR-1249-3p	HITS-CLIP	24906430
MIRT499414	hsa-miR-1249-3p	PAR-CLIP	26701625
MIRT499414	hsa-miR-1249-3p	PAR-CLIP	27292025
MIRT499414	hsa-miR-1249-3p	HITS-CLIP	27418678
MIRT499415	hsa-miR-1224-3p	PAR-CLIP	24398324
MIRT499415	hsa-miR-1224-3p	PAR-CLIP	20371350
MIRT499415	hsa-miR-1224-3p	HITS-CLIP	24906430
MIRT499415	hsa-miR-1224-3p	PAR-CLIP	26701625
MIRT499415	hsa-miR-1224-3p	HITS-CLIP	27418678
MIRT499416	hsa-miR-1288-5p	PAR-CLIP	24398324
MIRT499416	hsa-miR-1288-5p	PAR-CLIP	22012620
MIRT499416	hsa-miR-1288-5p	PAR-CLIP	20371350
MIRT499416	hsa-miR-1288-5p	HITS-CLIP	24906430
MIRT499416	hsa-miR-1288-5p	PAR-CLIP	26701625
MIRT499416	hsa-miR-1288-5p	PAR-CLIP	27292025
MIRT499416	hsa-miR-1288-5p	HITS-CLIP	27418678
MIRT499417	hsa-miR-4717-3p	PAR-CLIP	24398324
MIRT499417	hsa-miR-4717-3p	PAR-CLIP	23446348
MIRT499418	hsa-miR-6890-5p	PAR-CLIP	24398324
MIRT499418	hsa-miR-6890-5p	PAR-CLIP	23446348
MIRT499418	hsa-miR-6890-5p	PAR-CLIP	22012620
MIRT499418	hsa-miR-6890-5p	PAR-CLIP	20371350
MIRT499418	hsa-miR-6890-5p	HITS-CLIP	24906430
MIRT499418	hsa-miR-6890-5p	PAR-CLIP	26701625
MIRT499418	hsa-miR-6890-5p	PAR-CLIP	27292025
MIRT499418	hsa-miR-6890-5p	HITS-CLIP	27418678
MIRT499419	hsa-miR-6876-5p	PAR-CLIP	24398324
MIRT499419	hsa-miR-6876-5p	PAR-CLIP	23446348
MIRT499420	hsa-miR-4476	PAR-CLIP	24398324
MIRT499420	hsa-miR-4476	PAR-CLIP	23446348
MIRT499421	hsa-miR-575	PAR-CLIP	24398324
MIRT499421	hsa-miR-575	PAR-CLIP	20371350
MIRT499421	hsa-miR-575	HITS-CLIP	24906430
MIRT499421	hsa-miR-575	PAR-CLIP	26701625
MIRT499421	hsa-miR-575	PAR-CLIP	27292025
MIRT499421	hsa-miR-575	HITS-CLIP	27418678
MIRT499422	hsa-miR-4676-5p	PAR-CLIP	24398324
MIRT499422	hsa-miR-4676-5p	PAR-CLIP	20371350
MIRT499422	hsa-miR-4676-5p	HITS-CLIP	24906430
MIRT499422	hsa-miR-4676-5p	PAR-CLIP	26701625
MIRT499422	hsa-miR-4676-5p	PAR-CLIP	27292025
MIRT499422	hsa-miR-4676-5p	HITS-CLIP	27418678
MIRT499423	hsa-miR-6858-3p	PAR-CLIP	24398324
MIRT499423	hsa-miR-6858-3p	PAR-CLIP	20371350
MIRT499423	hsa-miR-6858-3p	HITS-CLIP	24906430
MIRT499423	hsa-miR-6858-3p	PAR-CLIP	26701625
MIRT499423	hsa-miR-6858-3p	PAR-CLIP	27292025
MIRT499423	hsa-miR-6858-3p	HITS-CLIP	27418678
MIRT499424	hsa-miR-383-5p	PAR-CLIP	24398324
MIRT499424	hsa-miR-383-5p	PAR-CLIP	22012620
MIRT499424	hsa-miR-383-5p	PAR-CLIP	20371350
MIRT499424	hsa-miR-383-5p	HITS-CLIP	24906430
MIRT499424	hsa-miR-383-5p	PAR-CLIP	26701625
MIRT499424	hsa-miR-383-5p	PAR-CLIP	27292025
MIRT499424	hsa-miR-383-5p	HITS-CLIP	27418678
MIRT499425	hsa-miR-504-5p	PAR-CLIP	24398324
MIRT499425	hsa-miR-504-5p	PAR-CLIP	23446348
MIRT499425	hsa-miR-504-5p	PAR-CLIP	22012620
MIRT499425	hsa-miR-504-5p	PAR-CLIP	20371350
MIRT499425	hsa-miR-504-5p	HITS-CLIP	24906430
MIRT499425	hsa-miR-504-5p	PAR-CLIP	26701625
MIRT499425	hsa-miR-504-5p	PAR-CLIP	27292025
MIRT499425	hsa-miR-504-5p	HITS-CLIP	27418678
MIRT499426	hsa-miR-4802-3p	PAR-CLIP	24398324
MIRT499426	hsa-miR-4802-3p	PAR-CLIP	23446348
MIRT499427	hsa-miR-5683	PAR-CLIP	24398324
MIRT499427	hsa-miR-5683	PAR-CLIP	23446348
MIRT499427	hsa-miR-5683	PAR-CLIP	22012620
MIRT499427	hsa-miR-5683	PAR-CLIP	20371350
MIRT499427	hsa-miR-5683	HITS-CLIP	24906430
MIRT499427	hsa-miR-5683	PAR-CLIP	26701625
MIRT499427	hsa-miR-5683	PAR-CLIP	27292025
MIRT499427	hsa-miR-5683	HITS-CLIP	27418678
MIRT499428	hsa-miR-6732-3p	PAR-CLIP	24398324
MIRT499428	hsa-miR-6732-3p	PAR-CLIP	23446348
MIRT499428	hsa-miR-6732-3p	PAR-CLIP	22012620
MIRT499428	hsa-miR-6732-3p	PAR-CLIP	20371350
MIRT499428	hsa-miR-6732-3p	HITS-CLIP	24906430
MIRT499428	hsa-miR-6732-3p	PAR-CLIP	26701625
MIRT499428	hsa-miR-6732-3p	PAR-CLIP	27292025
MIRT499428	hsa-miR-6732-3p	HITS-CLIP	27418678
MIRT654981	hsa-miR-3674	HITS-CLIP	23824327
MIRT654983	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT654984	hsa-miR-4452	HITS-CLIP	23824327
MIRT654985	hsa-miR-4420	HITS-CLIP	23824327
MIRT654986	hsa-miR-181b-3p	HITS-CLIP	23824327
MIRT654987	hsa-miR-181b-2-3p	HITS-CLIP	23824327
MIRT654988	hsa-miR-4703-3p	HITS-CLIP	23824327
MIRT654989	hsa-miR-4680-3p	HITS-CLIP	23824327

Show/Hide all(31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001784	Function	Phosphotyrosine residue binding	IPI	20624904
GO:0002092	Process	Positive regulation of receptor internalization	IEA
GO:0002223	Process	Stimulatory C-type lectin receptor signaling pathway	TAS
GO:0002316	Process	Follicular B cell differentiation	IEA
GO:0004435	Function	Phosphatidylinositol phospholipase C activity	IDA	11606584, 12181444
GO:0004435	Function	Phosphatidylinositol phospholipase C activity	TAS
GO:0004629	Function	Phospholipase C activity	TAS
GO:0005515	Function	Protein binding	IPI	15644415, 16273093, 17474147, 24642916, 24658140, 24728074, 25241761, 25814554, 31980649
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA	11606584
GO:0005886	Component	Plasma membrane	TAS
GO:0006661	Process	Phosphatidylinositol biosynthetic process	IDA	11606584, 12181444
GO:0009395	Process	Phospholipid catabolic process	IEA
GO:0010634	Process	Positive regulation of epithelial cell migration	IBA	21873635
GO:0016055	Process	Wnt signaling pathway	TAS	18784435
GO:0019722	Process	Calcium-mediated signaling	NAS	11043765
GO:0030168	Process	Platelet activation	TAS
GO:0030183	Process	B cell differentiation	ISS
GO:0032237	Process	Activation of store-operated calcium channel activity	IEA
GO:0032481	Process	Positive regulation of type I interferon production	IEA
GO:0032496	Process	Response to lipopolysaccharide	IEA
GO:0032959	Process	Inositol trisphosphate biosynthetic process	IEA
GO:0038095	Process	Fc-epsilon receptor signaling pathway	TAS
GO:0038096	Process	Fc-gamma receptor signaling pathway involved in phagocytosis	TAS
GO:0043069	Process	Negative regulation of programmed cell death	IEA
GO:0043647	Process	Inositol phosphate metabolic process	TAS
GO:0050852	Process	T cell receptor signaling pathway	ISS
GO:0050853	Process	B cell receptor signaling pathway	ISS
GO:0051209	Process	Release of sequestered calcium ion into cytosol	IDA	11606584
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0140031	Function	Phosphorylation-dependent protein binding	IEA

MIM	HGNC	e!Ensembl
600220	9066	ENSG00000197943

Protein

UniProt ID

Protein name

1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2 (EC 3.1.4.11) (Phosphoinositide phospholipase C-gamma-2) (Phospholipase C-IV) (PLC-IV) (Phospholipase C-gamma-2) (PLC-gamma-2)

Protein function

The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. It is a crucial enzyme in transmembrane signaling.

PDB

2K2J , 2W2W , 2W2X

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00388	PI-PLC-X	314 → 457	Phosphatidylinositol-specific phospholipase C, X domain	Family
PF00017	SH2	532 → 617	SH2 domain	Domain
PF00017	SH2	646 → 720	SH2 domain	Domain
PF00018	SH3_1	775 → 821	SH3 domain	Domain
PF00387	PI-PLC-Y	930 → 1042	Phosphatidylinositol-specific phospholipase C, Y domain	Family
PF00168	C2	1061 → 1168	C2 domain	Domain

Sequence

MSTTVNVDSLAEYEKSQIKRALELGTVMTVFSFRKSTPERRTVQVIMETRQVAWSKTADK
IEGFLDIMEIKEIRPGKNSKDFERAKAVRQKEDCCFTILYGTQFVLSTLSLAADSKEDAV
NWLSGLKILHQEAMNASTPTIIESWLRKQIYSVDQTRRNSISLRELKTILPLINFKVSSA
KFLKDKFVEIGAHKDELSFEQFHLFYKKLMFEQQKSILDEFKKDSSVFILGNTDRPDASA
VYLHDFQRFLIHEQQEHWAQDLNKVRERMTKFIDDTMRETAEPFLFVDEFLTYLFSRENS
IWDEKYDAVDMQDMNNPLSHYWISSSHNTYLTGDQLRSESSPEAYIRCLRMGCRCIELDC
WDGPDGKPVIYHGWTRTTKIKFDDVVQAIKDHAFVTSSFPVILSIEEHCSVEQQRHMAKA
FKEVFGDLLLTKPTEASADQLPSPSQLREKIIIKHKKLGPRGDVDVNMEDKKDEHKQQGE
LYMWDSIDQKWTRHYCAIADAKLSFSDDIEQTMEEEVPQDIPPTELHFGEKWFHKKVEKR
TSAEKLLQEYCMETGGKDGTFLVRESETFPNDYTLSFWRSGRVQHCRIRSTMEGGTLKYY
LTDNLTFSSIYALIQHYRETHLRCAEFELRLTDPVPNPNPHESKPWYYDSLSRGEAEDML
MRIPRDGAFLIRKREGSDSYAITFRARGKVKHCRINRDGRHFVLGTSAYFESLVELVSYY
EKHSLYRKMRLRYPVTPELLERYNMERDINSLYDVSRMYVDPSEINPSMPQRTVKALYDY
KAKRSDELSFCRGALIHNVSKEPGGWWKGDYGTRIQQYFPSNYVEDISTADFEELEKQII
EDNPLGSLCRGILDLNTYNVVKAPQGKNQKSFVFILEPKQQGDPPVEFATDRVEELFEWF
QSIREITWKIDTKENNMKYWEKNQSIAIELSDLVVYCKPTSKTKDNLENPDFREIRSFVE
TKADSIIRQKPVDLLKYNQKGLTRVYPKGQRVDSSNYDPFRLWLCGSQMVALNFQTADKY
MQMNHALFSLNGRTGYVLQPESMRTEKYDPMPPESQRKILMTLTVKVLGARHLPKLGRSI
ACPFVEVEICGAEYDNNKFKTTVVNDNGLSPIWAPTQEKVTFEIYDPNLAFLRFVVYEED
MFSDPNFLAHATYPIKAVKSGFRSVPLKNGYSEDIELASLLVFCEMRPVLESEEELYSSC
RQLRRRQEELNNQLFLYDTHQNLRNANRDALVKEFSVNENQLQLYQEKCNKRLREKRVSN
SKFYS

Sequence length

1265

Interactions

View interactions

	KEGG		Reactome
	Inositol phosphate metabolism Metabolic pathways EGFR tyrosine kinase inhibitor resistance ErbB signaling pathway Ras signaling pathway Calcium signaling pathway Chemokine signaling pathway NF-kappa B signaling pathway HIF-1 signaling pathway Phosphatidylinositol signaling system Phospholipase D signaling pathway Axon guidance VEGF signaling pathway Osteoclast differentiation Platelet activation Neutrophil extracellular trap formation C-type lectin receptor signaling pathway Natural killer cell mediated cytotoxicity B cell receptor signaling pathway Fc epsilon RI signaling pathway Fc gamma R-mediated phagocytosis Leukocyte transendothelial migration Neurotrophin signaling pathway Inflammatory mediator regulation of TRP channels Thyroid hormone signaling pathway AGE-RAGE signaling pathway in diabetic complications Growth hormone synthesis, secretion and action Vibrio cholerae infection Epithelial cell signaling in Helicobacter pylori infection Shigellosis Kaposi sarcoma-associated herpesvirus infection Epstein-Barr virus infection Human immunodeficiency virus 1 infection Coronavirus disease - COVID-19 Pathways in cancer Proteoglycans in cancer MicroRNAs in cancer Glioma Non-small cell lung cancer Hepatocellular carcinoma		GPVI-mediated activation cascade Toll Like Receptor 4 (TLR4) Cascade Synthesis of IP3 and IP4 in the cytosol Generation of second messenger molecules Role of phospholipids in phagocytosis DAP12 signaling FCERI mediated MAPK activation FCERI mediated Ca+2 mobilization CLEC7A (Dectin-1) signaling Dectin-2 family FCGR3A-mediated IL10 synthesis Antigen activates B Cell Receptor (BCR) leading to generation of second messengers

Associated diseases

Show/Hide Causal Diseases (7)

Causal
Disease name	Disease term	dbSNP ID	References
Cold autoinflammatory syndrome	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, Familial Cold Autoinflammatory Syndrome 1	rs121908146, rs121908148, rs121908149, rs121908150, rs121908151, rs121908152, rs121908153, rs121908154, rs28937896, rs-1, 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	22236196, 29538758, 23000145
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, rs-1, rs1600700389, rs1776278098, rs754904956, rs1760720617, rs1760720924	29538758
Inflammatory bowel disease	Inflammatory Bowel Diseases	rs137853579, rs137853580, rs121909601, rs149491038, rs368287711, rs387907326, rs587777338, rs758439420, rs1329427406, rs1264862631, rs1192830343, rs1373354533, rs1419560997, rs1591263883, rs-1, rs1989014468	28067908
Coronary artery disease	Coronary Artery Disease	rs137852988, rs121918313, rs-1, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537	29212778
Leukemia	Leukemia, Myelocytic, Acute	rs-1, rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297	27903959
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, rs-1, 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, rs145518263, 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	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

Show/Hide Unknown Diseases (13)

Unknown
Disease name	Disease term	dbSNP ID	References
Allergic rhinitis	Allergic rhinitis (disorder)
Antibody deficiency and immune dysregulation	PLCG2-associated antibody deficiency and immune dysregulation		23000145, 22236196
Bronchiolitis	Bronchiolitis
Cold urticaria	Familial cold urticaria
Cryopyrin-associated periodic syndromes	Cryopyrin-Associated Periodic Syndromes
Hashimoto disease	Hashimoto Disease
Lymphocytic leukemia	Chronic Lymphocytic Leukemia		27542411, 24869598
Muckle-wells syndrome	Muckle-Wells Syndrome
Neurological, cutaneous and articular syndrome	Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
Senile dementia	Presenile dementia, Acute Confusional Senile Dementia		28714976
Ulcerative colitis	Ulcerative Colitis		28067908
Urticaria	Urticaria
Vitiligo	Vitiligo

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