PPP1R14B

Chr 11

protein phosphatase 1 regulatory inhibitor subunit 14B

Also known as: PHI-1, PLCB3N, PNG, SOM172

NCBI Gene: 26472 ENSG00000173457 UniProt: Q96C90 OMIM: 601140

This gene encodes a protein that inhibits protein phosphatase 1 catalytic subunit alpha (PPP1CA), with inhibitory activity increased over 50-fold when phosphorylated. The gene has low constraint scores (pLI 0.004, LOEUF 1.554), indicating tolerance to loss-of-function variants, and no established disease associations are currently reported in pediatric neurogenetics.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable protein serine/threonine phosphatase inhibitor activity. Predicted to be involved in innate immune response. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.55

LOEUF

—

Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.55LOEUF

pLI 0.004

Z-score 0.65

OE 0.70 (0.34–1.55)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.72Z-score

OE missense 0.77 (0.62–0.96)

58 obs / 75.5 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.70 (0.34–1.55)

0≤0.351.4

Missense OE?0.77 (0.62–0.96)

0≤0.61.4

Synonymous OE?1.03

0≤1.21.6

LoF obs/exp: 4 / 5.7Missense obs/exp: 58 / 75.5Syn Z: -0.15

Background carrier burden — how many people carry a rare variant somewhere in PPP1R14B?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 340

171 rare PASS variants

Rare truncating (LoF)

1 in 5,700

20 rare PASS variants

Rare synonymous (reference)

1 in 800

93 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for PPP1R14B. 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 320	1 in 6,700
South Asian	~43k	1 in 360	1 in 4,700
Remaining (unassigned)	~30k	1 in 320	≈ 1 in 8,700
European (Finnish)	~27k	1 in 4,300	none seen
Admixed American	~22k	1 in 440	≈ 1 in 5,600
African / African American	~21k	1 in 330	1 in 3,100
East Asian	~20k	1 in 570	≈ 1 in 12,000
Ashkenazi Jewish	~13k	1 in 1,200	≈ 1 in 6,500
Middle Eastern	~2,883	≈ 1 in 600	none seen

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 4 coding exons well covered in gnomAD exomes and genomes.? see exons ↓