PAEP (Progestagen Associated Endometrial Protein)
Glycodelin, a key immunomodulatory and reproductive glycoprotein
Gene Information Card
| Symbol | PAEP |
|---|---|
| Full Name | Progestagen Associated Endometrial Protein |
| Gene Type | protein-coding |
| Chromosomal Location | 9q34.3 |
| NCBI Gene ID | 5047 ncbi.nlm.nih.gov/gene/5047 |
| Ensembl ID | ENSG00000107175 |
| UniProt ID | P09466 |
| OMIM ID | 173310 |
| HGNC ID | 8578 |
| Aliases | GdA, GdS, PEP, PP14, PAEG |
Description
The PAEP gene encodes glycodelin, a glycoprotein primarily secreted by the endometrium under progesterone influence. Glycodelin exhibits immunomodulatory properties, including inhibition of T-cell proliferation and natural killer cell activity, and plays roles in implantation, placentation, and sperm-egg binding. Alternative splicing yields isoforms with distinct glycosylation patterns (e.g., glycodelin-A in endometrium, glycodelin-S in seminal plasma).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Endometriosis | Altered glycodelin expression may impair endometrial receptivity and immune tolerance. | PMID: 23548206 |
| Recurrent pregnancy loss | Reduced endometrial glycodelin levels associated with defective decidualization. | PMID: 20685829 |
| Endometrial cancer | PAEP overexpression linked to tumor progression and immune evasion. | PMID: 29187742 |
| Male infertility | Glycodelin-S in seminal plasma modulates sperm capacitation; dysregulation affects fertility. | PMID: 16497798 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Endometrium | 189.2 | High |
| Fallopian tube | 45.6 | Medium |
| Prostate | 12.3 | Low |
| Testis | 8.7 | Low |
| Bone marrow | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEC-1A (endometrial) | 156.4 | Endometrial adenocarcinoma line |
| Ishikawa (endometrial) | 210.8 | Well-differentiated endometrial line |
| MCF-7 (breast) | 1.2 | Low expression |
| HeLa (cervical) | 0.8 | Not detected |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Likely loss of start codon; functional impact unknown |
| c.214C>T (p.Arg72Cys) | missense | <0.01% | May alter disulfide bonding and protein stability |
| c.379G>A (p.Glu127Lys) | missense | <0.01% | Reported in ClinVar as uncertain significance |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations reported; predicted null alleles may reduce glycodelin secretion.
Gain of Function (GOF)
Not described in literature.
Dominant Negative (DN)
Not described.
View complete mutation data:
Gene Ontology (GO)
Pathways
• Progesterone-mediated oocyte maturation (KEGG: hsa04914)
• Endometrial cancer (KEGG: hsa05213)
Protein Summary
Glycodelin (UniProt P09466) is a 180-amino-acid secreted glycoprotein with a lipocalin fold. It exists in several glycosylation variants: glycodelin-A (endometrial, fucosylated), glycodelin-S (seminal, non-fucosylated), and glycodelin-F (follicular fluid). The protein binds to cell surface receptors (e.g., L-selectin, Siglec-6) to modulate immune cell activity and cell adhesion. Its expression is tightly regulated by progesterone and is critical for establishing pregnancy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PAEP Knockout HEK293 Cell Line | EDJ-KQ5396 | Human | 5047 | Details Get a Quote |
| PAEP Knockout HeLa Cell Line | EDJ-KQ54073 | Human | 5047 | Details Get a Quote |
| PAEP Knockout A-549 Cell Line | EDJ-KQ62561 | Human | 5047 | Details Get a Quote |
| PAEP Knockout HCT 116 Cell Line | EDJ-KQ71031 | Human | 5047 | Details Get a Quote |