PKDREJ
Polycystin Receptor for Egg Jelly Related Protein (PKDREJ)
Gene Information Card
| Symbol | PKDREJ |
|---|---|
| Full Name | Polycystin Receptor for Egg Jelly Related Protein (PKDREJ) |
| Gene Type | protein-coding |
| Chromosomal Location | 22q13.31 |
| NCBI Gene ID | 283234 ncbi.nlm.nih.gov/gene/283234 |
| Ensembl ID | ENSG00000184903 |
| UniProt ID | Q8TCU4 |
| OMIM ID | 609782 |
| HGNC ID | 19987 |
| Aliases | PKDREJ, FLJ32798 |
Description
PKDREJ (Polycystin Receptor for Egg Jelly Related Protein) is a protein-coding gene located on chromosome 22q13.31. It encodes a member of the polycystin family of proteins, which are involved in cell-cell and cell-matrix interactions. PKDREJ is specifically expressed in the testis and is thought to function as a receptor for egg jelly components, playing a role in sperm-egg recognition and fertilization. The gene is orthologous to the sea urchin receptor for egg jelly (REJ) and is implicated in polycystic kidney disease-related pathways.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Polycystic Kidney Disease (PKD) | Potential involvement in ciliary signaling and cyst formation; limited direct evidence | UniProt; OMIM |
| Male Infertility | Disruption of sperm-egg interaction due to altered receptor function | NCBI Gene; UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Kidney | 1.2 | Low |
| Liver | 0.5 | Not detected |
| Brain | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Testis (Seminiferous Tubule) | 12.5 | High expression in spermatogenic cells |
| HEK293 | 0.8 | Low expression |
| HeLa | 0.2 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | <0.01% | Unknown functional effect |
| c.567delA | Frameshift | <0.001% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations likely lead to truncated protein and loss of receptor function.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • receptor activity | • calcium ion binding |
| • cell adhesion | • sperm-egg recognition |
Pathways
• Polycystin signaling pathway
• Cell-cell adhesion
Protein Summary
The PKDREJ protein is a transmembrane receptor with multiple extracellular domains, including a REJ domain and a polycystin domain. It is predicted to bind calcium ions and mediate cell adhesion. In the testis, it localizes to the sperm head and interacts with egg jelly components to facilitate fertilization. The protein shares structural homology with polycystin-1 (PKD1) and may participate in ciliary signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PKDREJ Knockout HEK293 Cell Line | EDJ-KQ7013 | Human | 10343 | Details Get a Quote |
| PKDREJ Knockout HeLa Cell Line | EDJ-KQ55385 | Human | 10343 | Details Get a Quote |
| PKDREJ Knockout A-549 Cell Line | EDJ-KQ63866 | Human | 10343 | Details Get a Quote |
| PKDREJ Knockout HCT 116 Cell Line | EDJ-KQ72323 | Human | 10343 | Details Get a Quote |
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