PLA2G2E
phospholipase A2 group IIE, the group of Phospholipases
Basic information
Region (hg38): 1:19920008-19923617
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the PLA2G2E gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 13 | 13 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 13 | 0 | 0 |
Variants in PLA2G2E
This is a list of pathogenic ClinVar variants found in the PLA2G2E region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 1-19920381-T-C | not specified | Uncertain significance (Dec 12, 2022) | ||
| 1-19920387-G-A | not specified | Uncertain significance (Jan 06, 2023) | ||
| 1-19920408-T-C | not specified | Uncertain significance (Mar 02, 2023) | ||
| 1-19922313-G-C | not specified | Uncertain significance (Jul 16, 2021) | ||
| 1-19922326-G-C | not specified | Uncertain significance (Nov 06, 2023) | ||
| 1-19922331-G-A | not specified | Uncertain significance (Dec 03, 2021) | ||
| 1-19922387-T-C | not specified | Uncertain significance (Jun 03, 2024) | ||
| 1-19922394-C-T | not specified | Uncertain significance (May 26, 2023) | ||
| 1-19922618-A-C | not specified | Uncertain significance (Aug 17, 2022) | ||
| 1-19922710-T-C | not specified | Uncertain significance (Aug 17, 2022) | ||
| 1-19922711-C-T | not specified | Uncertain significance (Jun 17, 2024) | ||
| 1-19922737-T-G | not specified | Uncertain significance (Sep 22, 2023) | ||
| 1-19922741-C-T | not specified | Uncertain significance (Jul 11, 2023) | ||
| 1-19922747-C-G | not specified | Uncertain significance (Jan 04, 2024) | ||
| 1-19922753-C-T | not specified | Uncertain significance (Jul 20, 2021) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| PLA2G2E | protein_coding | protein_coding | ENST00000375116 | 4 | 3609 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.0000244 | 0.318 | 125702 | 0 | 42 | 125744 | 0.000167 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.286 | 87 | 94.8 | 0.917 | 0.00000609 | 918 |
| Missense in Polyphen | 29 | 40.495 | 0.71615 | 399 | ||
| Synonymous | 0.783 | 34 | 40.3 | 0.843 | 0.00000292 | 275 |
| Loss of Function | 0.0280 | 7 | 7.08 | 0.989 | 3.01e-7 | 80 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000185 | 0.000181 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.000310 | 0.000308 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.0000981 | 0.0000980 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: PA2 catalyzes the calcium-dependent hydrolysis of the 2- acyl groups in 3-sn-phosphoglycerides. Has a preference for arachidonic-containing phospholipids.;
- Pathway
- Ether lipid metabolism - Homo sapiens (human);Glycerophospholipid metabolism - Homo sapiens (human);Fat digestion and absorption - Homo sapiens (human);Vascular smooth muscle contraction - Homo sapiens (human);alpha-Linolenic acid metabolism - Homo sapiens (human);Arachidonic acid metabolism - Homo sapiens (human);Linoleic acid metabolism - Homo sapiens (human);Ras signaling pathway - Homo sapiens (human);Pancreatic secretion - Homo sapiens (human);Ras Signaling;Acyl chain remodelling of PI;Acyl chain remodelling of PG;Metabolism of lipids;Metabolism;phospholipases;Acyl chain remodelling of PC;Linoleate metabolism;Glycerophospholipid metabolism;Acyl chain remodelling of PS;Glycerophospholipid biosynthesis;Phospholipid metabolism;Acyl chain remodelling of PE;Synthesis of PA;Arachidonic acid metabolism
(Consensus)
Recessive Scores
- pRec
- 0.118
Intolerance Scores
- loftool
- 0.640
- rvis_EVS
- 0.13
- rvis_percentile_EVS
- 63
Haploinsufficiency Scores
- pHI
- 0.173
- hipred
- N
- hipred_score
- 0.170
- ghis
- 0.426
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.564
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Pla2g2e
- Phenotype
Gene ontology
- Biological process
- phospholipid metabolic process;phosphatidic acid biosynthetic process;inflammatory response;lipid catabolic process;low-density lipoprotein particle remodeling;phosphatidylglycerol acyl-chain remodeling;phosphatidylinositol acyl-chain remodeling;phosphatidylserine acyl-chain remodeling;phosphatidylcholine acyl-chain remodeling;phosphatidylethanolamine acyl-chain remodeling;arachidonic acid secretion
- Cellular component
- extracellular region
- Molecular function
- phospholipase A2 activity;calcium ion binding;phospholipid binding;calcium-dependent phospholipase A2 activity;phospholipase A2 activity (consuming 1,2-dipalmitoylphosphatidylcholine);phospholipase A2 activity consuming 1,2-dioleoylphosphatidylethanolamine)