PLCG2
entrez
5336
canonical
uniprot
P16885
canonical
ensembl
ENSG00000197943
resolver
ensp
ENSP00000482457
resolver
ensp
ENSP00000520637
resolver
ensp
ENSP00000520638
resolver
ensp
ENSP00000572484
resolver
ensp
ENSP00000572490
resolver
enst
ENST00000564138
resolver
enst
ENST00000565054
resolver
enst
ENST00000697580
resolver
enst
ENST00000902425
resolver
enst
ENST00000902431
resolver
genesymbol
PLCG2
resolver
hgnc
HGNC:9066
resolver
uniprot
D3DUL3
resolver
uniprot
Q3ZTS2
resolver
uniprot
Q59H45
resolver
uniprot
Q969T5
resolver
uniprot_entry
PLCG2_HUMAN
resolver
uniprot_sec
D3DUL3
resolver
uniprot_sec
Q3ZTS2
resolver
uniprot_sec
Q59H45
resolver
uniprot_sec
Q969T5
resolver
amino_acid_sequence
MSTTVNVDSLAEYEKSQIKRALELGTVMTVFSFRKSTPERRTVQVIMETRQVAWSKTADKIEGFLDIMEIKEIRPGKNSKDFERAKAVRQKEDCCFTILYGTQFVLSTLSLAADSKEDAVNWLSGLKILHQEAMNASTPTIIESWLRKQIYSVDQTRRNSISLRELKTILPLINFKVSSAKFLKDKFVEIGAHKDELSFEQFHLFYKKLMFEQQKSILDEFKKDSSVFILGNTDRPDASAVYLHDFQRFLIHEQQEHWAQDLNKVRERMTKFIDDTMRETAEPFLFVDEFLTYLFSRENSIWDEKYDAVDMQDMNNPLSHYWISSSHNTYLTGDQLRSESSPEAYIRCLRMGCRCIELDCWDGPDGKPVIYHGWTRTTKIKFDDVVQAIKDHAFVTSSFPVILSIEEHCSVEQQRHMAKAFKEVFGDLLLTKPTEASADQLPSPSQLREKIIIKHKKLGPRGDVDVNMEDKKDEHKQQGELYMWDSIDQKWTRHYCAIADAKLSFSDDIEQTMEEEVPQDIPPTELHFGEKWFHKKVEKRTSAEKLLQEYCMETGGKDGTFLVRESETFPNDYTLSFWRSGRVQHCRIRSTMEGGTLKYYLTDNLTFSSIYALIQHYRETHLRCAEFELRLTDPVPNPNPHESKPWYYDSLSRGEAEDMLMRIPRDGAFLIRKREGSDSYAITFRARGKVKHCRINRDGRHFVLGTSAYFESLVELVSYYEKHSLYRKMRLRYPVTPELLERYNMERDINSLYDVSRMYVDPSEINPSMPQRTVKALYDYKAKRSDELSFCRGALIHNVSKEPGGWWKGDYGTRIQQYFPSNYVEDISTADFEELEKQIIEDNPLGSLCRGILDLNTYNVVKAPQGKNQKSFVFILEPKQQGDPPVEFATDRVEELFEWFQSIREITWKIDTKENNMKYWEKNQSIAIELSDLVVYCKPTSKTKDNLENPDFREIRSFVETKADSIIRQKPVDLLKYNQKGLTRVYPKGQRVDSSNYDPFRLWLCGSQMVALNFQTADKYMQMNHALFSLNGRTGYVLQPESMRTEKYDPMPPESQRKILMTLTVKVLGARHLPKLGRSIACPFVEVEICGAEYDNNKFKTTVVNDNGLSPIWAPTQEKVTFEIYDPNLAFLRFVVYEEDMFSDPNFLAHATYPIKAVKSGFRSVPLKNGYSEDIELASLLVFCEMRPVLESEEELYSSCRQLRRRQEELNNQLFLYDTHQNLRNANRDALVKEFSVNENQLQLYQEKCNKRLREKRVSNSKFYS
uniprot
proteins
disease_involvement
DISEASE: Familial cold autoinflammatory syndrome 3 (FCAS3) [MIM:614468]: An autosomal dominant immune disorder characterized by the development of cutaneous urticaria, erythema, and pruritis in response to cold exposure. Affected individuals have variable additional immunologic defects, including antibody deficiency, decreased numbers of B-cells, defective B-cells, increased susceptibility to infection, and increased risk of autoimmune disorders. {ECO:0000269|PubMed:22236196}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Autoinflammation, antibody deficiency, and immune dysregulation (APLAID) [MIM:614878]: An autosomal dominant systemic disorder characterized by recurrent blistering skin lesions with a dense inflammatory infiltrate and variable involvement of other tissues, including joints, the eye, and the gastrointestinal tract. Affected individuals have a mild humoral immune deficiency associated with recurrent sinopulmonary infections, but no evidence of circulating autoantibodies. {ECO:0000269|PubMed:23000145}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.1.4.11
uniprot
proteins
function
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 (PubMed:19394299, PubMed:23000145). It is a crucial enzyme in transmembrane signaling (PubMed:23000145). {ECO:0000269|PubMed:19394299, ECO:0000269|PubMed:23000145}.
uniprot
proteins
mass_dalton
147870
uniprot
proteins
post_translational_modification
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:0000250|UniProtKB:Q8CIH5, ECO:0000269|PubMed:11606584, ECO:0000269|PubMed:12181444}.
uniprot
proteins
pubmed
11606584
uniprot
proteins
pubmed
12181444
uniprot
proteins
pubmed
15144186
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
16533400
uniprot
proteins
pubmed
19394299
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22236196
uniprot
proteins
pubmed
23000145
uniprot
proteins
pubmed
23478294
uniprot
proteins
pubmed
24869598
uniprot
proteins
pubmed
2849563
uniprot
proteins
sequence_length
1265
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane raft {ECO:0000250|UniProtKB:Q8CIH5}.
uniprot
proteins