PATL2

Chr 15AR

PAT1 homolog 2

Also known as: OOMD4, OZEMA4, Pat1a, hPat1a

NCBI Gene: 197135ENSG00000229474UniProt: C9JE40

Predicted to enable RNA binding activity. Predicted to be involved in P-body assembly; deadenylation-dependent decapping of nuclear-transcribed mRNA; and negative regulation of translation. Predicted to act upstream of or within negative regulation of cytoplasmic mRNA processing body assembly. Located in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

Primary Disease Associations & Inheritance

Oocyte/zygote/embryo maturation arrest 4MIM #617743
AR
120
ClinVar variants
23
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— PATL2
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
23 Pathogenic / Likely Pathogenic· 77 VUS of 120 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.98LOEUF
pLI 0.000
Z-score 1.65
OE 0.69 (0.49–0.98)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
1.48Z-score
OE missense 0.75 (0.67–0.84)
209 obs / 278.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.69 (0.49–0.98)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.75 (0.67–0.84)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.85
0≤1.21.6
LoF obs/exp: 22 / 32.1Missense obs/exp: 209 / 278.7Syn Z: 1.23

ClinVar Variant Classifications

120 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic17
Likely Pathogenic6
VUS77
Likely Benign15
Benign4
Conflicting1
17
Pathogenic
6
Likely Pathogenic
77
VUS
15
Likely Benign
4
Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
5
0
12
0
17
Likely Pathogenic
1
2
3
0
6
VUS
0
66
10
1
77
Likely Benign
0
8
0
7
15
Benign
0
3
0
1
4
Conflicting
—1
Total679259120

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

View in ClinVar →

Protein Context — Lollipop Plot

PATL2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
PAT1 HOMOLOG 2; PATL2
MIM #614661 · *

Oocyte/zygote/embryo maturation arrest 4

MIM #617743

Molecular basis of disorder known

Autosomal recessive
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Genetic factors as potential molecular markers of human oocyte and embryo quality.
Sang Q et al.·J Assist Reprod Genet
2021Review
Total fertilization failure after ICSI: insights into pathophysiology, diagnosis, and management through artificial oocyte activation.
Campos G et al.·Hum Reprod Update
2023Review
Identification novel mutations and phenotypic spectrum expanding in PATL2 in infertile women with IVF/ICSI failure.
Ye Z et al.·J Assist Reprod Genet
2024
Identification of novel variants and expansion of the phenotypic spectrum in PATL2, WEE2, and TUBB8 associated with human early embryonic arrest.
Zhao H et al.·J Assist Reprod Genet
2025
Novel mutations in NLRP5 and PATL2 cause female infertility characterized by primarily oocyte maturation abnormality and consequent early embryonic arrest.
Huang L et al.·J Assist Reprod Genet
2022
Novel PATL2 variants cause female infertility with oocyte maturation defect.
Hu HY et al.·J Assist Reprod Genet
2024
Oocyte phenotype, genetic diagnosis, and clinical outcome in case of patients with oocyte maturation arrest.
Zhu L et al.·Front Endocrinol (Lausanne)
2022Cohort
[Clinical phenotype and genetic analysis of a patient with Oocyte maturation defect due to a novel variant of PATL2 gene].
Wang F et al.·Zhonghua Yi Xue Yi Chuan Xue Za Zhi
2025Case report
PATL2 is a key actor of oocyte maturation whose invalidation causes infertility in women and mice.
Christou-Kent M et al.·EMBO Mol Med
2018
Meiosis interrupted: the genetics of female infertility via meiotic failure.
Biswas L et al.·Reproduction
2021Review
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools