Gene Gene information from NCBI Gene database.
Entrez ID 5294
Gene name Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
Gene symbol PIK3CG
Synonyms (NCBI Gene)
IMD97PI3CGPI3KPI3KgammaPIK3p110gammap120-PI3K
Chromosome 7
Chromosome location 7q22.3
Summary Phosphoinositide 3-kinases (PI3Ks) phosphorylate inositol lipids and are involved in the immune response. The protein encoded by this gene is a class I catalytic subunit of PI3K. Like other class I catalytic subunits (p110-alpha p110-beta, and p110-delta)
miRNA miRNA information provided by mirtarbase database.
228
miRTarBase ID miRNA Experiments Reference
MIRT006815 hsa-miR-29b-3p MicroarrayqRT-PCRWestern blot 22297492
MIRT006831 hsa-miR-126-3p ImmunocytochemistryLuciferase reporter assayqRT-PCRWestern blot 22900072
MIRT019349 hsa-miR-148b-3p Microarray 17612493
MIRT029342 hsa-miR-26b-5p Microarray 19088304
MIRT006831 hsa-miR-126-3p MicroarrayqRT-PCRWestern blotSILAC (Stable Isotope Labeling of Amino acids in Culture) 23142521
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
92
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001525 Process Angiogenesis IEA
GO:0001819 Process Positive regulation of cytokine production TAS 19075988
GO:0002250 Process Adaptive immune response TAS 17290298
GO:0002376 Process Immune system process IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601232 8978 ENSG00000105851
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P48736
Protein name Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform (PI3-kinase subunit gamma) (PI3K-gamma) (PI3Kgamma) (PtdIns-3-kinase subunit gamma) (EC 2.7.1.137) (EC 2.7.1.153) (EC 2.7.1.154) (Phosphatidylinositol 4,5-bisphosphate 3-kinase
Protein function Phosphoinositide-3-kinase (PI3K) that phosphorylates PtdIns(4,5)P2 (Phosphatidylinositol 4,5-bisphosphate) to generate phosphatidylinositol 3,4,5-trisphosphate (PIP3). PIP3 plays a key role by recruiting PH domain-containing proteins to the memb
PDB 1E8Y , 1E8Z , 1HE8 , 2A4Z , 2A5U , 2CHW , 2CHX , 2CHZ , 2V4L , 3APC , 3APD , 3APF , 3CSF , 3CST , 3DBS , 3DPD , 3ENE , 3IBE , 3L08 , 3L13 , 3L16 , 3L17 , 3L54 , 3LJ3 , 3MJW , 3ML8 , 3ML9 , 3NZS , 3NZU , 3OAW , 3P2B , 3PRE , 3PRZ , 3PS6 , 3QAQ , 3QAR , 3QJZ , 3QK0 , 3R7Q , 3R7R , 3S2A , 3SD5 , 3T8M , 3TJP , 3TL5 , 3ZVV , 3ZW3 , 4ANU , 4ANV , 4ANW , 4ANX
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00794 PI3K_rbd 203 312 PI3-kinase family, ras-binding domain Domain
PF00792 PI3K_C2 377 519 Phosphoinositide 3-kinase C2 Domain
PF00613 PI3Ka 543 733 Phosphoinositide 3-kinase family, accessory domain (PIK domain) Family
PF00454 PI3_PI4_kinase 827 1044 Phosphatidylinositol 3- and 4-kinase Family
Tissue specificity TISSUE SPECIFICITY: Pancreas, skeletal muscle, liver and heart. {ECO:0000269|PubMed:7624799}.
Sequence
MELENYKQPVVLREDNCRRRRRMKPRSAAASLSSMELIPIEFVLPTSQRKCKSPETALLH
VAGHGNVEQMKAQVWLRALETSVAADFYHRLGPHHFLLLYQKKGQWYEIYDKYQVVQTLD
CLRYWKATHRSPGQIHLVQRHPPSEESQAFQRQLTALIGYDVTDVSNVHDDELEFTRRGL
VTPRMAEVASRDPKLYAMHPWVTSKPLPEYLWKKIANNCIFIVIHRSTTSQTIKVSPDDT
PGAILQSFFTKMAKKKSLMDIPESQSEQDFVLRVCGRDEYLVGETPIKNFQWVRHCLKNG
EEIHVVLDTPPD
PALDEVRKEEWPLVDDCTGVTGYHEQLTIHGKDHESVFTVSLWDCDRK
FRVKIRGIDIPVLPRNTDLTVFVEANIQHGQQVLCQRRTSPKPFTEEVLWNVWLEFSIKI
KDLPKGALLNLQIYCGKAPALSSKASAESPSSESKGKVQLLYYVNLLLIDHRFLLRRGEY
VLHMWQISGKGEDQGSFNADKLTSATNPDKENSMSISIL
LDNYCHPIALPKHQPTPDPEG
DRVRAEMPNQLRKQLEAIIATDPLNPLTAEDKELLWHFRYESLKHPKAYPKLFSSVKWGQ
QEIVAKTYQLLARREVWDQSALDVGLTMQLLDCNFSDENVRAIAVQKLESLEDDDVLHYL
LQLVQAVKFEPYHDSALARFLLKRGLRNKRIGHFLFWFLRSEIAQSRHYQQRFAVILEAY
LRGCGTAMLHDFT
QQVQVIEMLQKVTLDIKSLSAEKYDVSSQVISQLKQKLENLQNSQLP
ESFRVPYDPGLKAGALAIEKCKVMASKKKPLWLEFKCADPTALSNETIGIIFKHGDDLRQ
DMLILQILRIMESIWETESLDLCLLPYGCISTGDKIGMIEIVKDATTIAKIQQSTVGNTG
AFKDEVLNHWLKEKSPTEEKFQAAVERFVYSCAGYCVATFVLGIGDRHNDNIMITETGNL
FHIDFGHILGNYKSFLGINKERVPFVLTPDFLFVMGTSGKKTSPHFQKFQDICVKAYLAL
RHHTNLLIILFSMMLMTGMPQLTS
KEDIEYIRDALTVGKNEEDAKKYFLDQIEVCRDKGW
TVQFNWFLHLVLGIKQGEKHSA
Sequence length 1102
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
26
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Immunodeficiency 97 with autoinflammation Pathogenic rs376453517, rs2116619574, rs774060880 RCV002210952
RCV002210953
RCV002204560
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOMEGALY CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
ACTIVATED PI3K-DELTA SYNDROME ACTIVATED PI3K-DELTA SYNDROME BEFREE 27116393, 27616589, 28167755, 28842185, 29556229, 30116245, 31031754
★☆☆☆☆
Found in Text Mining only
Acute Erythroblastic Leukemia Erythroblastic Leukemia BEFREE 20445019
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 12556562, 16115127, 23705826, 24966925, 30639430, 31412710
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 18483299, 18665177, 22685175, 23958920, 24244612, 26080839, 27018341, 28125433, 28159681, 28295182, 29179029, 29574283, 30669372, 30795552, 31705930
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 26999641, 29143813, 29276026, 29559471, 31217869
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 29457828, 29620213, 30694771, 31414732, 31531867
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 18491231, 24676995, 27840989, 30316766, 31032633
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 10972292, 12097266, 14695323, 16772787, 24037752, 24500884, 25019985, 27334835, 27845189, 30429033, 30542835
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 21943101, 25012123
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 25435423, 28867195
★☆☆☆☆
Found in Text Mining only