PATL2 Chromosome 15
PAT1 homolog 2
Upload your DNA to see your personal genotypes for variants in PATL2.
What This Gene Does
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]
Gene Info
Gene Group
Armadillo like helical domain containing
Locus Type
gene with protein product
Location
15q21.1
Ensembl
ENSG00000229474
Associated Conditions (3)
Inborn genetic diseases
Oocyte maturation defect 4
Oocyte maturation defect 2
Key Variants
RS951076370
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1156737044
Likely pathogenic
Oocyte maturation defect 4, Oocyte maturation defect 4
Health Risk
RS1350038531
Likely pathogenic
Oocyte maturation defect 4, Oocyte maturation defect 4
Health Risk
RS1351320025
Likely pathogenic
Oocyte maturation defect 4, Oocyte maturation defect 4
Health Risk
RS1361024832
Likely pathogenic
Oocyte maturation defect 4, Oocyte maturation defect 4
Health Risk
RS548527219
Likely pathogenic
Oocyte maturation defect 4, Oocyte maturation defect 2, Oocyte maturation defect 4
Health Risk
RS1341424851
Pathogenic
Oocyte maturation defect 4, Oocyte maturation defect 4
Health Risk
RS1555385717
Pathogenic
Oocyte maturation defect 4, Oocyte maturation defect 4
Health Risk
RS2505872051
Pathogenic
Oocyte maturation defect 4, Oocyte maturation defect 4
Health Risk
RS751701388
Pathogenic
Oocyte maturation defect 4, Oocyte maturation defect 4
Health Risk
RS752734259
Pathogenic
Oocyte maturation defect 4, Oocyte maturation defect 4
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS951076370 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1156737044 | Health Risk | Likely pathogenic | Oocyte maturation defect 4, Oocyte maturation defect 4 |
| RS1350038531 | Health Risk | Likely pathogenic | Oocyte maturation defect 4, Oocyte maturation defect 4 |
| RS1351320025 | Health Risk | Likely pathogenic | Oocyte maturation defect 4, Oocyte maturation defect 4 |
| RS1361024832 | Health Risk | Likely pathogenic | Oocyte maturation defect 4, Oocyte maturation defect 4 |
| RS548527219 | Health Risk | Likely pathogenic | Oocyte maturation defect 4, Oocyte maturation defect 2, Oocyte maturation defect 4 |
| RS1341424851 | Health Risk | Pathogenic | Oocyte maturation defect 4, Oocyte maturation defect 4 |
| RS1555385717 | Health Risk | Pathogenic | Oocyte maturation defect 4, Oocyte maturation defect 4 |
| RS2505872051 | Health Risk | Pathogenic | Oocyte maturation defect 4, Oocyte maturation defect 4 |
| RS751701388 | Health Risk | Pathogenic | Oocyte maturation defect 4, Oocyte maturation defect 4 |
| RS752734259 | Health Risk | Pathogenic | Oocyte maturation defect 4, Oocyte maturation defect 4 |