PLGRKT

Chr 9

plasminogen receptor with a C-terminal lysine

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

NCBI Gene: 55848ENSG00000107020UniProt: Q9HBL7

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

ResearchGenerating clinical summary…
0
Active trials
6
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.87
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

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

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PLGRKT · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients