PIWIL2

Chr 8

piwi like RNA-mediated gene silencing 2

Also known as: CT80, HILI, PIWIL1L, mili

NCBI Gene: 55124ENSG00000197181UniProt: Q8TC59

PIWIL2 belongs to the Argonaute family of proteins, which function in development and maintenance of germline stem cells (Sasaki et al., 2003 [PubMed 12906857]).[supplied by OMIM, Mar 2008]

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0
Active trials
19
Pubs (1 yr)
0
P/LP submissions
—
P/LP missense
0.60
LOEUF
—
Mechanism
Clinical Summary— PIWIL2
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.60LOEUF
pLI 0.000
Z-score 3.85
OE 0.42 (0.30–0.60)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
-0.12Z-score
OE missense 1.01 (0.94–1.09)
553 obs / 545.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.42 (0.30–0.60)
0≤0.351.4
Missense OE1.01 (0.94–1.09)
0≤0.61.4
Synonymous OE1.01
0≤1.21.6
LoF obs/exp: 22 / 52.0Missense obs/exp: 553 / 545.2Syn Z: -0.15

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PIWIL2 · 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.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
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Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
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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