POP1

Chr 8AR

POP1 ribonuclease P/MRP subunit

Also known as: ANXD2

NCBI Gene: 10940ENSG00000104356UniProt: Q8NE79

The protein functions as a ribonuclease that processes pre-RNA in both the endoribonuclease for mitochondrial RNA processing complex and the ribonuclease P complex. Mutations cause anauxetic dysplasia 2, a skeletal dysplasia syndrome, with autosomal recessive inheritance. This gene shows low constraint against loss-of-function variants (pLI near 0), suggesting tolerance to such changes in the general population.

Summary from RefSeq, OMIM, UniProt
Research Assistant →

Primary Disease Associations & Inheritance

Anauxetic dysplasia 2MIM #617396
AR
UniProtMuscular dystrophy, limb-girdle, autosomal recessive 25
0
Active trials
15
Pubs (1 yr)
52
P/LP submissions
6%
P/LP missense
0.76
LOEUF
—
Mechanism
Clinical Summary— POP1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
52 unique Pathogenic / Likely Pathogenic· 121 VUS of 342 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.76LOEUF
pLI 0.000
Z-score 2.97
OE 0.56 (0.41–0.76)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
1.12Z-score
OE missense 0.87 (0.81–0.94)
495 obs / 570.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.56 (0.41–0.76)
0≤0.351.4
Missense OE0.87 (0.81–0.94)
0≤0.61.4
Synonymous OE0.89
0≤1.21.6
LoF obs/exp: 29 / 52.2Missense obs/exp: 495 / 570.3Syn Z: 1.28

ClinVar Variant Classifications

342 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic48
Likely Pathogenic4
VUS121
Likely Benign138
Benign15
Conflicting3
48
Pathogenic
4
Likely Pathogenic
121
VUS
138
Likely Benign
15
Benign
3
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
8
3
37
0
48
Likely Pathogenic
4
0
0
0
4
VUS
0
118
3
0
121
Likely Benign
0
9
37
92
138
Benign
0
4
3
8
15
Conflicting
—3
Total1213480100329

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

POP1 · 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
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 4 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Novel phenotype associated with homozygous likely pathogenic variant in the POP1 gene.
Michelson M et al.·Clin Genet
2024Case report
Clinical significance for diagnosis and prognosis of POP1 and its potential role in breast cancer: a comprehensive analysis based on multiple databases.
He X et al.·Aging (Albany NY)
2022
The novel R211Q POP1 homozygous mutation causes different pathogenesis and skeletal changes from those of previously reported POP1-associated anauxetic dysplasia.
Abdulhadi-Atwan M et al.·Am J Med Genet A
2020Case report
Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia.
Barraza-García J et al.·Clin Genet
2017
Further evidence of POP1 mutations as the cause of anauxetic dysplasia.
Elalaoui SC et al.·Am J Med Genet A
2016Case report
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