PATL2

Chr 15AR

PAT1 homolog 2

Also known as: OOMD4, OZEMA4, Pat1a, hPat1a

NCBI Gene: 197135 ENSG00000229474 UniProt: C9JE40 OMIM: 614661

PATL2 encodes an RNA-binding protein that acts as a translational repressor and is involved in mRNA processing and decay pathways. Mutations cause oocyte/zygote/embryo maturation arrest 4, an autosomal recessive condition affecting early embryonic development and fertility. This gene shows low constraint against loss-of-function variants in the general population.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Oocyte/zygote/embryo maturation arrest 4MIM #617743

Clinical highlights

Gene–disease validity

Not independently assessedOMIM lists Oocyte/zygote/embryo maturation arrest 4; no ClinGen or GenCC tier

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.98

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.98LOEUF

pLI 0.000

Z-score 1.65

OE 0.69 (0.49–0.98)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

1.48Z-score

OE missense 0.75 (0.67–0.84)

209 obs / 278.7 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.69 (0.49–0.98)

0≤0.351.4

Missense OE?0.75 (0.67–0.84)

0≤0.61.4

Synonymous OE?0.85

0≤1.21.6

LoF obs/exp: 22 / 32.1Missense obs/exp: 209 / 278.7Syn Z: 1.23

Background carrier burden — how many people carry a rare variant somewhere in PATL2?

gnomAD v4 · ~700k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 60

795 rare PASS variants

Rare truncating (LoF)

1 in 910

165 rare PASS variants

Rare synonymous (reference)

1 in 190

287 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for PATL2. 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)	~540k	1 in 81	1 in 1,200
South Asian	~40k	1 in 57	1 in 1,200
Remaining (unassigned)	~29k	1 in 52	1 in 910
European (Finnish)	~25k	1 in 220	1 in 2,800
African / African American	~21k	1 in 73	1 in 810
East Asian	~18k	1 in 61	1 in 390
Admixed American	~18k	1 in 60	1 in 570
Ashkenazi Jewish	~13k	1 in 150	≈ 1 in 4,200
Middle Eastern	~2,852	1 in 61	1 in 570

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