PLA2R1

Chr 2

phospholipase A2 receptor 1

Also known as: CLEC13C, PLA2-R, PLA2G1R, PLA2IR, PLA2R

NCBI Gene: 22925 ENSG00000153246 UniProt: Q13018 OMIM: 604939

This gene represents a phospholipase A2 receptor. The encoded protein likely exists as both a transmembrane form and a soluble form. The transmembrane receptor may play a role in clearance of phospholipase A2, thereby inhibiting its action. Polymorphisms at this locus have been associated with susceptibility to idiopathic membranous nephropathy. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

GOF

Mechanism· predicted

Some data sources returned errors (1)

gnomad: Error: gnomAD API error: 400

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in PLA2R1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 31

1,744 rare PASS variants

Rare truncating (LoF)

1 in 230

372 rare PASS variants

Rare synonymous (reference)

1 in 71

634 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for PLA2R1. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 38	1 in 230
South Asian	~43k	1 in 30	1 in 160
Remaining (unassigned)	~30k	1 in 25	1 in 170
European (Finnish)	~27k	1 in 130	1 in 400
Admixed American	~22k	1 in 29	1 in 160
African / African American	~21k	1 in 25	1 in 120
East Asian	~20k	1 in 30	1 in 330
Ashkenazi Jewish	~13k	1 in 110	1 in 990
Middle Eastern	~2,884	1 in 37	1 in 160

Each group is summed over the variants that are rare in that group. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 16 of 30 coding exons well covered in gnomAD exomes; exons 5, 6, 9, 10, 13 and 9 more marginal. Genomes: all 30.? see exons ↓