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PLCG2 (phospholipase C gamma 2)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5336
Gene nameGene Name - the full gene name approved by the HGNC.
Phospholipase C gamma 2
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
PLCG2
SynonymsGene synonyms aliases
APLAID, FCAS3, PLC-IV, PLC-gamma-2
ChromosomeChromosome number
16
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q23.3
SummarySummary of gene provided in NCBI Entrez Gene.
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
SNPsSNP information provided by dbSNP.
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
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT019144 hsa-miR-335-5p Microarray 18185580
MIRT654989 hsa-miR-4680-3p HITS-CLIP 23824327
MIRT654988 hsa-miR-4703-3p HITS-CLIP 23824327
MIRT654987 hsa-miR-181b-2-3p HITS-CLIP 23824327
MIRT654986 hsa-miR-181b-3p HITS-CLIP 23824327
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID P16885
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. {ECO:
PDB 2K2J , 2W2W , 2W2X , 8JQG , 8JQH , 8JQI , 8T7C
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
FKEVFGDLLLTKPTEASADQLPSPSQLREKIIIKHKK
LGPRGDVDVNMEDKKDEHKQQGE
LYMWDSIDQKWTRHYCAIADAKLSFSDDIEQTMEEEVPQDIPPTELHFGEKWFHKKVEKR
TSAEKLLQEYCMETGGKDGTFLVRESETFPNDYTLSFWRSGRVQHCRIRSTMEGGTLKYY
LTDNLTFSSIYALIQHY
RETHLRCAEFELRLTDPVPNPNPHESKPWYYDSLSRGEAEDML
MRIPRDGAFLIRKREGSDSYAITFRARGKVKHCRINRDGRHFVLGTSAYFESLVELVSYY

EKHSLYRKMRLRYPVTPELLERYNMERDINSLYDVSRMYVDPSEINPSMPQRTVKALYDY
KAKRSDELSFCRGALIHNVSKEPGGWWKGDYGTRIQQYFPS
NYVEDISTADFEELEKQII
EDNPLGSLCRGILDLNTYNVVKAPQGKNQKSFVFILEPKQQGDPPVEFATDRVEELFEWF
QSIREITWKIDTKENNMKYWEKNQSIAIELSDLVVYCKPTSKTKDNLENPDFREIRSFVE
TKADSIIRQKPVDLLKYNQKGLTRVYPKGQRVDSSNYDPFRLWLCGSQMVALNFQTADKY
MQMNHALFSLNGRTGYVLQPES
MRTEKYDPMPPESQRKILMTLTVKVLGARHLPKLGRSI
ACPFVEVEICGAEYDNNKFKTTVVNDNGLSPIWAPTQEKVTFEIYDPNLAFLRFVVYEED
MFSDPNFLAHATYPIKAVKSGFRSVPLK
NGYSEDIELASLLVFCEMRPVLESEEELYSSC
RQLRRRQEELNNQLFLYDTHQNLRNANRDALVKEFSVNENQLQLYQEKCNKRLREKRVSN
SKFYS
Sequence length 1265
Interactions View interactions

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