PLGRKT

Chr 9

plasminogen receptor with a C-terminal lysine

Also known as: AD025, C9orf46, MDS030, PLG-RKT, Plg-R(KT)

NCBI Gene: 55848 ENSG00000107020 UniProt: Q9HBL7 OMIM: 618444

The PLGRKT protein serves as a receptor for plasminogen and regulates cell surface plasminogen activation, including involvement in neuroendocrine prohormone processing and inflammatory response regulation. Mutations in PLGRKT cause autosomal recessive plasminogen receptor deficiency, which presents with developmental delays, intellectual disability, and seizures typically manifesting in early childhood. The condition primarily affects the nervous system with additional features that may include growth abnormalities and metabolic dysfunction.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to be involved in positive regulation of plasminogen activation. Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.87

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.87LOEUF

pLI 0.000

Z-score -0.72

OE 1.28 (0.78–1.87)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-1.09Z-score

OE missense 1.35 (1.15–1.59)

104 obs / 77.0 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?1.28 (0.78–1.87)

0≤0.351.4

Missense OE?1.35 (1.15–1.59)

0≤0.61.4

Synonymous OE?1.48

0≤1.21.6

LoF obs/exp: 10 / 7.8Missense obs/exp: 104 / 77.0Syn Z: -1.89

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

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 220

246 rare PASS variants

Rare truncating (LoF)

1 in 1,700

53 rare PASS variants

Rare synonymous (reference)

1 in 800

76 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for PLGRKT. 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 400	1 in 1,900
South Asian	~43k	1 in 370	1 in 770
Remaining (unassigned)	~30k	1 in 150	1 in 650
European (Finnish)	~27k	1 in 760	1 in 3,800
Admixed American	~22k	1 in 430	1 in 2,800
African / African American	~21k	1 in 390	1 in 1,700
East Asian	~20k	1 in 290	≈ 1 in 4,900
Ashkenazi Jewish	~13k	1 in 440	≈ 1 in 13,000
Middle Eastern	~2,883	1 in 220	≈ 1 in 1,400

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 2 of 4 coding exons well covered in gnomAD exomes; exons 3, 5 marginal. Genomes: all 4.? see exons ↓