Gene/Proteome Database (LMPD)

LMPD ID
LMP000965
Gene ID
5336
Species
Homo sapiens (Human)
Gene Name
phospholipase C, gamma 2 (phosphatidylinositol-specific)
Gene Symbol
PLCG2
Synonyms
APLAID; FCAS3; PLC-IV; PLC-gamma-2
Alternate Names
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2; phospholipase C-IV; phosphoinositide phospholipase C-gamma-2
Chromosome
16
Map Location
16q24.1
EC Number
3.1.4.11
Summary
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]
Orthologs
View orthologs and multiple alignments for PLCG2

Proteins

1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2
Refseq ID NP_002652
Protein GI 117320537
UniProt ID P16885
mRNA ID NM_002661
Length 1265
RefSeq Status REVIEWED
MSTTVNVDSLAEYEKSQIKRALELGTVMTVFSFRKSTPERRTVQVIMETRQVAWSKTADKIEGFLDIMEIKEIRPGKNSKDFERAKAVRQKEDCCFTILYGTQFVLSTLSLAADSKEDAVNWLSGLKILHQEAMNASTPTIIESWLRKQIYSVDQTRRNSISLRELKTILPLINFKVSSAKFLKDKFVEIGAHKDELSFEQFHLFYKKLMFEQQKSILDEFKKDSSVFILGNTDRPDASAVYLHDFQRFLIHEQQEHWAQDLNKVRERMTKFIDDTMRETAEPFLFVDEFLTYLFSRENSIWDEKYDAVDMQDMNNPLSHYWISSSHNTYLTGDQLRSESSPEAYIRCLRMGCRCIELDCWDGPDGKPVIYHGWTRTTKIKFDDVVQAIKDHAFVTSSFPVILSIEEHCSVEQQRHMAKAFKEVFGDLLLTKPTEASADQLPSPSQLREKIIIKHKKLGPRGDVDVNMEDKKDEHKQQGELYMWDSIDQKWTRHYCAIADAKLSFSDDIEQTMEEEVPQDIPPTELHFGEKWFHKKVEKRTSAEKLLQEYCMETGGKDGTFLVRESETFPNDYTLSFWRSGRVQHCRIRSTMEGGTLKYYLTDNLTFSSIYALIQHYRETHLRCAEFELRLTDPVPNPNPHESKPWYYDSLSRGEAEDMLMRIPRDGAFLIRKREGSDSYAITFRARGKVKHCRINRDGRHFVLGTSAYFESLVELVSYYEKHSLYRKMRLRYPVTPELLERYNMERDINSLYDVSRMYVDPSEINPSMPQRTVKALYDYKAKRSDELSFCRGALIHNVSKEPGGWWKGDYGTRIQQYFPSNYVEDISTADFEELEKQIIEDNPLGSLCRGILDLNTYNVVKAPQGKNQKSFVFILEPKQQGDPPVEFATDRVEELFEWFQSIREITWKIDTKENNMKYWEKNQSIAIELSDLVVYCKPTSKTKDNLENPDFREIRSFVETKADSIIRQKPVDLLKYNQKGLTRVYPKGQRVDSSNYDPFRLWLCGSQMVALNFQTADKYMQMNHALFSLNGRTGYVLQPESMRTEKYDPMPPESQRKILMTLTVKVLGARHLPKLGRSIACPFVEVEICGAEYDNNKFKTTVVNDNGLSPIWAPTQEKVTFEIYDPNLAFLRFVVYEEDMFSDPNFLAHATYPIKAVKSGFRSVPLKNGYSEDIELASLLVFCEMRPVLESEEELYSSCRQLRRRQEELNNQLFLYDTHQNLRNANRDALVKEFSVNENQLQLYQEKCNKRLREKRVSNSKFYS

Gene Information

Entrez Gene ID
5336
Gene Name
phospholipase C, gamma 2 (phosphatidylinositol-specific)
Gene Symbol
PLCG2
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005829 TAS:Reactome C cytosol
GO:0070062 IDA:UniProt C extracellular vesicular exosome
GO:0005886 IDA:UniProtKB C plasma membrane
GO:0004435 IDA:UniProtKB F phosphatidylinositol phospholipase C activity
GO:0004629 TAS:Reactome F phospholipase C activity
GO:0004871 IEA:UniProtKB-KW F signal transducer activity
GO:0030183 ISS:UniProtKB P B cell differentiation
GO:0050853 ISS:UniProtKB P B cell receptor signaling pathway
GO:0038095 TAS:Reactome P Fc-epsilon receptor signaling pathway
GO:0038096 TAS:Reactome P Fc-gamma receptor signaling pathway involved in phagocytosis
GO:0050852 ISS:UniProtKB P T cell receptor signaling pathway
GO:0016055 TAS:UniProtKB P Wnt signaling pathway
GO:0007596 TAS:Reactome P blood coagulation
GO:0019722 NAS:UniProtKB P calcium-mediated signaling
GO:0045087 TAS:Reactome P innate immune response
GO:0043647 TAS:Reactome P inositol phosphate metabolic process
GO:0006661 IDA:UniProtKB P phosphatidylinositol biosynthetic process
GO:0009395 IEA:InterPro P phospholipid catabolic process
GO:0030168 TAS:Reactome P platelet activation
GO:0051209 IDA:UniProtKB P release of sequestered calcium ion into cytosol
GO:0044281 TAS:Reactome P small molecule metabolic process

KEGG Pathway Links

KEGG Pathway ID Description
hsa04750 Inflammatory mediator regulation of TRP channels
hsa04611 Platelet activation
hsa04014 Ras signaling pathway
hsa04919 Thyroid hormone signaling pathway

Domain Information

InterPro Annotations

Accession Description
IPR028381 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2
IPR000008 C2 domain
IPR017946 PLC-like phosphodiesterase, TIM beta/alpha-barrel domain
IPR016279 Phosphatidylinositol-4, 5-bisphosphate phosphodiesterase gamma
IPR001192 Phosphoinositide phospholipase C family
IPR000909 Phospholipase C, phosphatidylinositol-specific , X domain
IPR001711 Phospholipase C, phosphatidylinositol-specific, Y domain
IPR015359 Phospholipase C, phosphoinositol-specific, EF-hand-like
IPR001849 Pleckstrin homology domain
IPR011993 Pleckstrin homology-like domain
IPR000980 SH2 domain
IPR001452 SH3_domain

UniProt Annotations

Entry Information

Gene Name
phospholipase C, gamma 2 (phosphatidylinositol-specific)
Protein Entry
PLCG2_HUMAN
UniProt ID
P16885
Species
Human

Comments

Comment Type Description
Catalytic Activity 1-phosphatidyl-1D-myo-inositol 4,5- bisphosphate + H(2)O = 1D-myo-inositol 1,4,5-trisphosphate + diacylglycerol.
Cofactor Name=Ca(2+); Xref=ChEBI
Disease Autoinflammation, antibody deficiency, and immune dysregulation PLCG2-associated (APLAID) [MIM
Disease Familial cold autoinflammatory syndrome 3 (FCAS3) [MIM
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.
Interaction P10275:AR; NbExp=6; IntAct=EBI-617403, EBI-608057; P00533:EGFR; NbExp=5; IntAct=EBI-617403, EBI-297353; P19235:EPOR; NbExp=3; IntAct=EBI-617403, EBI-617321; P04626:ERBB2; NbExp=3; IntAct=EBI-617403, EBI-641062; Q13480:GAB1; NbExp=15; IntAct=EBI-617403, EBI-517684; P10721:KIT; NbExp=8; IntAct=EBI-617403, EBI-1379503; P27986:PIK3R1; NbExp=2; IntAct=EBI-617403, EBI-79464;
Ptm Phosphorylated on tyrosine residues by CSF1R (By similarity). Phosphorylated on tyrosine residues by BTK and SYK; upon ligand- induced activation of a variety of growth factor receptors and immune system receptors. Phosphorylation leads to increased phospholipase activity. {ECO
Sequence Caution Sequence=AAA60112.1; Type=Frameshift; Positions=1242; Evidence= ; Sequence=AAQ76815.1; Type=Frameshift; Positions=1242; Evidence= ; Sequence=BAD92151.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence= ; Sequence=CAA32194.1; Type=Frameshift; Positions=1242; Evidence= ;
Similarity Contains 1 C2 domain. {ECO
Similarity Contains 1 PH domain. {ECO
Similarity Contains 1 PI-PLC X-box domain. {ECO
Similarity Contains 1 PI-PLC Y-box domain. {ECO
Similarity Contains 1 SH3 domain. {ECO
Similarity Contains 2 SH2 domains. {ECO
Subunit Interacts (via SH2 domain) with CSF1R (tyrosine phosphorylated).

Identical and Related Proteins

Unique RefSeq proteins for LMP000965 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
117320537 RefSeq NP_002652 1265 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2

Identical Sequences to LMP000965 proteins

Reference Database Accession Length Protein Name
GI:117320537 DBBJ BAG10628.1 1265 phospholipase C, gamma 2, partial [synthetic construct]
GI:117320537 GenBank EAW95524.1 1265 phospholipase C, gamma 2 (phosphatidylinositol-specific), isoform CRA_a [Homo sapiens]
GI:117320537 GenBank EAW95525.1 1265 phospholipase C, gamma 2 (phosphatidylinositol-specific), isoform CRA_a [Homo sapiens]
GI:117320537 SwissProt P16885.4 1265 RecName: Full=1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2; AltName: Full=Phosphoinositide phospholipase C-gamma-2; AltName: Full=Phospholipase C-IV; Short=PLC-IV; AltName: Full=Phospholipase C-gamma-2; Short=PLC-gamma-2 [Homo sapiens]

Related Sequences to LMP000965 proteins

Reference Database Accession Length Protein Name
GI:117320537 DBBJ BAD92151.1 1278 1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase gamma 2 variant, partial [Homo sapiens]
GI:117320537 EMBL CBU87839.1 1265 unnamed protein product [Homo sapiens]
GI:117320537 EMBL CBU96786.1 1265 unnamed protein product [Homo sapiens]
GI:117320537 GenBank AAH18646.1 1265 PLCG2 protein [Homo sapiens]
GI:117320537 RefSeq XP_001148089.1 1265 PREDICTED: 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2 isoform X1 [Pan troglodytes]
GI:117320537 RefSeq XP_003820933.1 1265 PREDICTED: 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2 [Pan paniscus]