PINX1

Chr 8

PIN2 (TERF1) interacting telomerase inhibitor 1

Also known as: Gno1, LPTL, LPTS, Pxr1

NCBI Gene: 54984ENSG00000258724UniProt: Q96BK5

Enables telomerase RNA binding activity and telomerase inhibitor activity. Involved in several processes, including negative regulation of macromolecule metabolic process; positive regulation of protein localization to nucleolus; and protein localization to organelle. Acts upstream of or within telomere maintenance via telomerase. Located in several cellular components, including chromosomal region; nuclear lumen; and spindle. Implicated in hepatocellular carcinoma. [provided by Alliance of Genome Resources, Apr 2025]

0
Active trials
0
Pathogenic / LP
0
ClinVar variants
9
Pubs (1 yr)
-2.6
Missense Z
1.76
LOEUF
Clinical Summary— PINX1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.76LOEUF
pLI 0.000
Z-score -0.40
OE 1.13 (0.72–1.76)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-2.59Z-score
OE missense 1.54 (1.40–1.70)
280 obs / 181.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE1.13 (0.72–1.76)
0≤0.351.4
Missense OE1.54 (1.40–1.70)
0≤0.61.4
Synonymous OE1.35
0≤1.21.6
LoF obs/exp: 12 / 10.6Missense obs/exp: 280 / 181.7Syn Z: -2.28
DN
DN
0.6937th %ile
GOF
0.5072th %ile
LOF
0.4627th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

PINX1 · 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 →
Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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