PIK3C2G

Chr 12

phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma

Also known as: PI3K-C2-gamma, PI3K-C2GAMMA

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 trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. This gene may play a role in several diseases, including type II diabetes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

OMIMResearchGenerating clinical summary…
0
Active trials
Pubs (1 yr)
P/LP submissions
P/LP missense
1.14
LOEUF
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.14LOEUF
pLI 0.000
Z-score 0.60
OE 0.92 (0.751.14)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.97Z-score
OE missense 1.10 (1.041.17)
757 obs / 685.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.92 (0.751.14)
00.351.4
Missense OE?1.10 (1.041.17)
00.61.4
Synonymous OE?1.01
01.21.6
LoF obs/exp: 63 / 68.4Missense obs/exp: 757 / 685.3Syn Z: -0.18

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

PIK3C2G · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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