PLPP5

Chr 8

phospholipid phosphatase 5

Also known as: DPPL1, HTPAP, PPAPDC1B

NCBI Gene: 84513 ENSG00000147535 UniProt: Q8NEB5 OMIM: 610626

Enables diacylglycerol diphosphate phosphatase activity and phosphatidate phosphatase activity. Involved in phospholipid dephosphorylation. Predicted to be located in cytoplasm and plasma membrane. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.93

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.93LOEUF

pLI 0.000

Z-score -1.50

OE 1.51 (0.99–1.93)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.69Z-score

OE missense 0.83 (0.71–0.97)

113 obs / 135.7 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?1.51 (0.99–1.93)

0≤0.351.4

Missense OE?0.83 (0.71–0.97)

0≤0.61.4

Synonymous OE?0.91

0≤1.21.6

LoF obs/exp: 15 / 9.9Missense obs/exp: 113 / 135.7Syn Z: 0.50

Background carrier burden — how many people carry a rare variant somewhere in PLPP5?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 160

368 rare PASS variants

Rare truncating (LoF)

1 in 740

98 rare PASS variants

Rare synonymous (reference)

1 in 510

160 rare PASS variants

Rare missense and truncating variants are carried at similar rates in PLPP5; this gene does not show strong loss-of-function constraint by this measure. 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 220	1 in 1,800
South Asian	~43k	1 in 120	1 in 680
Remaining (unassigned)	~30k	1 in 130	1 in 310
European (Finnish)	~27k	1 in 290	1 in 4,400
Admixed American	~22k	1 in 280	1 in 490
African / African American	~21k	1 in 100	1 in 450
East Asian	~20k	1 in 210	1 in 1,200
Ashkenazi Jewish	~13k	1 in 380	none seen
Middle Eastern	~2,884	1 in 160	≈ 1 in 1,300

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): All 7 coding exons well covered in gnomAD exomes and genomes.? see exons ↓