PLAA

Chr 9p21.2

phospholipase A2 activating protein

Aliases:: PLAP, PLA2P, FLJ11281, FLJ12699, DOA1
MANE:: ENST00000397292.8

OMIM: 603873 ↗NCBI: 9373 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

PLAA · Q9Y263

v62025-08-01

Predicted Aligned Error matrix for PLAA — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

84.0/ 100

Confident

795 residues

Confidence breakdown

Very high(≥ 90)57%
Confident(70–90)27%
Low(50–70)4%
Very low(< 50)11%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly
BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
0.76
Microcephaly - brain defect - spasticity - hypernatremia
0.51
hereditary disease
0.45
Epileptic encephalopathy
0.37
neurodegenerative disease
0.37
gestational diabetes
0.25
amyotrophic lateral sclerosis
0.08
behavioral variant of frontotemporal dementia
0.08
ovarian carcinoma
0.08
ovarian cancer
0.08

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Phospholipase A-2-activating protein

Plays a role in protein ubiquitination, sorting and degradation through its association with VCP (PubMed:27753622). Involved in ubiquitin-mediated membrane proteins trafficking to late endosomes in an ESCRT-dependent manner, and hence plays a role in synaptic vesicle recycling (By similarity). May play a role in macroautophagy, regulating for instance the clearance of damaged lysosomes (PubMed:27753622). Plays a role in cerebellar Purkinje cell development (By similarity). Positively regulates cytosolic and calcium-independent phospholipase A2 activities in a tumor necrosis factor alpha (TNF)- or lipopolysaccharide (LPS)-dependent manner, and hence prostaglandin E2 biosynthesis (PubMed:18291623, PubMed:28007986)