Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5288
Gene name	Phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma
Gene symbol	PIK3C2G
Synonyms (NCBI Gene)	PI3K-C2-gammaPI3K-C2GAMMA
Chromosome	12
Chromosome location	12p12.3
Summary	The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein traffi

Show/Hide all (14)

miRTarBase ID	miRNA	Experiments
MIRT1234126	hsa-miR-3941	CLIP-seq
MIRT1234127	hsa-miR-4257	CLIP-seq
MIRT1234128	hsa-miR-4643	CLIP-seq
MIRT1234129	hsa-miR-466	CLIP-seq
MIRT1234130	hsa-miR-4672	CLIP-seq
MIRT1234131	hsa-miR-4789-3p	CLIP-seq
MIRT1234132	hsa-miR-4795-3p	CLIP-seq
MIRT1234133	hsa-miR-513a-3p	CLIP-seq
MIRT1234126	hsa-miR-3941	CLIP-seq
MIRT1234128	hsa-miR-4643	CLIP-seq
MIRT1234129	hsa-miR-466	CLIP-seq
MIRT1234130	hsa-miR-4672	CLIP-seq
MIRT1234131	hsa-miR-4789-3p	CLIP-seq
MIRT1234133	hsa-miR-513a-3p	CLIP-seq

Show/Hide all (27)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006935	Process	Chemotaxis	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	ISS
GO:0016301	Function	Kinase activity	IEA
GO:0016303	Function	1-phosphatidylinositol-3-kinase activity	IBA
GO:0016303	Function	1-phosphatidylinositol-3-kinase activity	IEA
GO:0016303	Function	1-phosphatidylinositol-3-kinase activity	ISS
GO:0016303	Function	1-phosphatidylinositol-3-kinase activity	NAS	9878262
GO:0016477	Process	Cell migration	IBA
GO:0016740	Function	Transferase activity	IEA
GO:0035005	Function	1-phosphatidylinositol-4-phosphate 3-kinase activity	IBA
GO:0035005	Function	1-phosphatidylinositol-4-phosphate 3-kinase activity	IEA
GO:0035005	Function	1-phosphatidylinositol-4-phosphate 3-kinase activity	ISS
GO:0035091	Function	Phosphatidylinositol binding	IEA
GO:0036092	Process	Phosphatidylinositol-3-phosphate biosynthetic process	IBA
GO:0036092	Process	Phosphatidylinositol-3-phosphate biosynthetic process	ISS
GO:0043491	Process	Phosphatidylinositol 3-kinase/protein kinase B signal transduction	IBA
GO:0044788	Process	Host-mediated perturbation of viral process	IMP	19376974
GO:0046854	Process	Phosphatidylinositol phosphate biosynthetic process	IEA
GO:0048015	Process	Phosphatidylinositol-mediated signaling	IBA
GO:0052742	Function	Phosphatidylinositol kinase activity	NAS	9878262

MIM	HGNC	e!Ensembl
609001	8973	ENSG00000139144

O75747

Protein name

Phosphatidylinositol 3-kinase C2 domain-containing subunit gamma (PI3K-C2-gamma) (PtdIns-3-kinase C2 subunit gamma) (EC 2.7.1.137) (EC 2.7.1.154) (Phosphoinositide 3-kinase-C2-gamma)

Protein function

Generates phosphatidylinositol 3-phosphate (PtdIns3P) and phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2) that act as second messengers (By similarity). May play a role in SDF1A-stimulated chemotaxis (By similarity). {ECO:0000250|UniProtKB

PDB

2WWE

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00794	PI3K_rbd	274 → 371	PI3-kinase family, ras-binding domain	Domain
PF00613	PI3Ka	647 → 828	Phosphoinositide 3-kinase family, accessory domain (PIK domain)	Family
PF00454	PI3_PI4_kinase	915 → 1130	Phosphatidylinositol 3- and 4-kinase	Family
PF00787	PX	1225 → 1307	PX domain	Domain
PF00168	C2	1341 → 1440	C2 domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in liver, prostate and testis. Lower levels in small intestine, kidney and pancreas. {ECO:0000269|PubMed:9878262}.

Sequence

MAYSWQTDPNPNESHEKQYEHQEFLFVNQPHSSSQVSLGFDQIVDEISGKIPHYESEIDE
NTFFVPTAPKWDSTGHSLNEAHQISLNEFTSKSRELSWHQVSKAPAIGFSPSVLPKPQNT
NKECSWGSPIGKHHGADDSRFSILAPSFTSLDKINLEKELENENHNYHIGFESSIPPTNS
SFSSDFMPKEENKRSGHVNIVEPSLMLLKGSLQPGMWESTWQKNIESIGCSIQLVEVPQS
SNTSLASFCNKVKKIRERYHAADVNFNSGKIWSTTTAFPYQLFSKTKFNIHIFIDNSTQP
LHFMPCANYLVKDLIAEILHFCTNDQLLPKDHILSVCGSEEFLQNDHCLGSHKMFQKDKS
VIQLHLQKSREAPGKLSRKHEEDHSQFYLNQLLEFMHIWKVSRQCLLTLIRKYDFHLKYL
LKTQENVYNIIEEVKKICSVLGCVETKQITDAVNELSLILQRKGENFYQSSETSAKGLIE
KVTTELSTSIYQLINVYCNSFYADFQPVNVPRCTSYLNPGLPSHLSFTVYAAHNIPETWV
HRINFPLEIKSLPRESMLTVKLFGIACATNNANLLAWTCLPLFPKEKSILGSMLFSMTLQ
SEPPVEMITPGVWDVSQPSPVTLQIDFPATGWEYMKPDSEENRSNLEEPLKECIKHIARL
SQKQTPLLLSEEKKRYLWFYRFYCNNENCSLPLVLGSAPGWDERTVSEMHTILRRWTFSQ
PLEALGLLTSSFPDQEIRKVAVQQLDNLLNDELLEYLPQLVQAVKFEWNLESPLVQLLLH
RSLQSIQVAHRLYWLLKNAENEAYFKSWYQKLLAALQFCAGKALNDEFSKEQKLIKILGD
IGERVKSASDHQRQEVLKKEIGRLEEFFQDVNTCHLPLNPALCIKGIDHDACSYFTSNAL
PLKITFINANPMGKNISIIFKAGDDLRQDMLVLQLIQVMDNIWLQEGLDMQMIIYRCLST
GKDQGLVQMVPDAVTLAKIHRHSGLIGPLKENTIKKWFSQHNHLKADYEKALRNFFYSCA
GWCVVTFILGVCDRHNDNIMLTKSGHMFHIDFGKFLGHAQTFGGIKRDRAPFIFTSEMEY
FITEGGKNPQHFQDFVELCCRAYNIIRKHSQLLLNLLEMMLYAGLPELSGIQDLKYVYNN
LRPQDTDLEATSHFTKKIKESLECFPVKLNNLIHTLAQMSAISPAKSTSQTFPQESCLLS
TTRSIERATILGFSKKSSNLYLIQVTHSNNETSLTEKSFEQFSKLHSQLQKQFASLTLPE
FPHWWHLPFTNSDHRRFRDLNHYMEQILNVSHEVTNSDCVLSFFLSEAVQQTVEESSPVY
LGEKFPDKKPKVQLVISYEDVKLTILVKHMKNIHLPDGSAPSAHVEFYLLPYPSEVRRRK
TKSVPKCTDPTYNEIVVYDEVTELQGHVLMLIVKSKTVFVGAINIRLCSVPLDKEKWYPL
GNSII

Sequence length

1445

Interactions

View interactions

	KEGG		Reactome
	Inositol phosphate metabolism Metabolic pathways Phosphatidylinositol signaling system Salmonella infection		Synthesis of PIPs at the plasma membrane Synthesis of PIPs at the Golgi membrane

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)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Esophageal atresia/tracheoesophageal fistula	Likely pathogenic	rs1949470660	RCV001172298	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Premature coronary artery atherosclerosis	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROGRESSIVE SUPRANUCLEAR PALSY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPERMATOGENIC FAILURE 17	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (10)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	17991425, 25760438		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	38130930	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	22369086		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlipidemias	Hyperlipidemia	Pubtator	22369086	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31638167		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	28522871	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	22369086		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	22369086	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	31638167		★★★★★ ★☆☆☆☆ Found in Text Mining only
Progressive supranuclear palsy	Progressive Supranuclear Palsy	GWASCAT_DG	30066433		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

PIK3C2G (phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma)