PATL2 Gene - Patatin Like Phospholipase Domain Containing 2
Genetic and Functional Insights into PATL2, a Key Regulator of Oocyte Maturation and Female Fertility
Gene Information Card
| Symbol | PATL2 |
|---|---|
| Full Name | Patatin Like Phospholipase Domain Containing 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q21.1 |
| NCBI Gene ID | 197135 ncbi.nlm.nih.gov/gene/197135 |
| Ensembl ID | ENSG00000137807 |
| UniProt ID | Q8N7M0 |
| OMIM ID | 614661 |
| HGNC ID | 28233 |
| Aliases | PATL2, C15orf20, FLJ20699, MGC13170 |
Description
PATL2 (Patatin Like Phospholipase Domain Containing 2) is a protein-coding gene located on chromosome 15q21.1. It encodes a member of the patatin-like phospholipase family, though its precise enzymatic function remains under investigation. PATL2 is predominantly expressed in germ cells, particularly oocytes, and plays a critical role in oocyte maturation and early embryonic development. Loss-of-function mutations in PATL2 are associated with female infertility due to oocyte maturation arrest. The protein is involved in mRNA storage, translational regulation, and cytoplasmic polyadenylation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Oocyte maturation defect (OOMD) | Biallelic loss-of-function mutations in PATL2 disrupt oocyte cytoplasmic maturation, leading to meiotic arrest and failure to progress to metaphase II. | ClinVar, OMIM #614661 |
| Female infertility (non-syndromic) | Homozygous or compound heterozygous PATL2 variants cause primary infertility due to oocyte maturation arrest. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Ovary | 12.5 | Medium |
| Testis | 2.1 | Low |
| Fallopian tube | 1.8 | Low |
| Uterus | 0.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Oocyte (human) | High | Key cell type for PATL2 function |
| K562 | 0.2 | Low expression |
| HeLa | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense (start loss) | Rare | Loss of protein expression |
| c.127C>T (p.Arg43*) | Nonsense | Rare | Premature truncation, loss of function |
| c.370G>A (p.Gly124Arg) | Missense | Rare | Impaired protein stability and function |
| c.586C>T (p.Arg196*) | Nonsense | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function mutations (nonsense, frameshift, start loss) cause oocyte maturation arrest and female infertility.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • nucleus (GO:0005634) | • RNA binding (GO:0003723) |
| • spermatogenesis (GO:0007283) | • oocyte maturation (GO:0001556) |
Pathways
• Oocyte meiosis (Reactome: R-HSA-1500620)
• mRNA surveillance pathway (KEGG: hsa03015)
• Translational regulation by cytoplasmic polyadenylation
Protein Summary
PATL2 is a 479-amino acid protein containing a patatin-like phospholipase domain. It localizes to the cytoplasm and nucleus of oocytes and is involved in mRNA binding and translational control. The protein is essential for oocyte cytoplasmic maturation; its absence leads to meiotic arrest at the germinal vesicle stage. PATL2 interacts with components of the CCR4-NOT deadenylase complex and regulates poly(A) tail length of maternal mRNAs.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PATL2 Knockout HEK293 Cell Line | EDJ-KQ11593 | Human | 197135 | Details Get a Quote |
| PATL2 Knockout HeLa Cell Line | EDJ-KQ58979 | Human | 197135 | Details Get a Quote |
| PATL2 Knockout A-549 Cell Line | EDJ-KQ67464 | Human | 197135 | Details Get a Quote |
| PATL2 Knockout HCT 116 Cell Line | EDJ-KQ75860 | Human | 197135 | Details Get a Quote |
