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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PKDREJ
polycystin family receptor for egg jelly
Chromosome 22 · 22q13.31
NCBI Gene: 10343Ensembl: ENSG00000130943.7HGNC: HGNC:9015UniProt: Q9NTG1
15PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleuscalcium channel activitydetection of mechanical stimulusmembraneocular hypotensionspermatogenic failure 60spermatogenic failure 73spermatogenic failure 74
✦AI Summary

PKDREJ (polycystin family receptor for egg jelly) is a testis-specific transmembrane protein localized to the sperm plasma membrane, particularly in the acrosomal region 1. As a member of the polycystin family, PKDREJ functions as a sperm receptor homologous to the sea urchin receptor for egg jelly 2, playing a central role in mammalian fertilization. The protein modulates G-protein signaling and associates with polycystin-2 family ion channels 3, regulating sperm transport and the timing of zona pellucida-induced acrosome reaction 4. PKDREJ exhibits evidence of positive selection among primates and within humans, suggesting adaptive evolution driven by sperm-egg coevolution 5. In rodents, evolutionary rates of Pkdrej correlate with testes mass relative to body mass, indicating post-copulatory sexual selection pressure 4. Population-level analysis reveals that PKDREJ alleles previously maintained by long-term balancing selection in African populations have experienced recent positive selection in Eurasian populations 6. These findings establish PKDREJ as a functionally important fertilization protein whose evolution is shaped by both sperm competition and environmental adaptation, with potential implications for human fertility 5.

Sources cited
1
PKDREJ is localized to the plasma membrane of the sperm head, particularly in the acrosomal region, and is exclusively expressed in testis
PMID: 16261614
2
PKDREJ is a mammalian homologue of sea urchin receptor for egg jelly and has a testis-restricted expression pattern
PMID: 9949214
3
PKDREJ modulates G-protein signaling and associates with polycystin-2 family members, consistent with roles in acrosome reaction
PMID: 16883570
4
Loss of PKDREJ affects sperm transport and acrosome reaction; evolutionary rate correlates with testes mass in rodents, indicating sexual selection
PMID: 25304980
5
PKDREJ shows evidence of positive selection among primates and polymorphisms within human populations suggesting adaptive evolution and possible balancing selection
PMID: 17564962
6
PKDREJ alleles previously under balancing selection in Africans show recent positive selection in Eurasian populations
PMID: 26831942
Disease Associationsⓘ20
ocular hypotensionOpen Targets
0.24Weak
spermatogenic failure 59Open Targets
0.05Suggestive
spermatogenic failure 60Open Targets
0.05Suggestive
spermatogenic failure 73Open Targets
0.05Suggestive
spermatogenic failure 74Open Targets
0.05Suggestive
spermatogenic failure 61Open Targets
0.05Suggestive
spermatogenic failure 62Open Targets
0.05Suggestive
spermatogenic failure 88Open Targets
0.05Suggestive
spermatogenic failure 48Open Targets
0.05Suggestive
spermatogenic failure 57Open Targets
0.05Suggestive
spermatogenic failure 50Open Targets
0.05Suggestive
spermatogenic failure 25Open Targets
0.05Suggestive
azoospermiaOpen Targets
0.05Suggestive
male infertility due to globozoospermiaOpen Targets
0.05Suggestive
spermatogenic failure 66Open Targets
0.05Suggestive
spermatogenic failure 67Open Targets
0.05Suggestive
spermatogenic failure 68Open Targets
0.05Suggestive
spermatogenic failure 69Open Targets
0.05Suggestive
spermatogenic failure, X-linked, 7Open Targets
0.05Suggestive
spermatogenic failure 6Open Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ZP3Protein interaction94%PKD2L2Shared pathway49%PKD1L2Shared pathway48%PKD1L1Shared pathway40%CACHD1Shared pathway33%CACNA2D2Shared pathway33%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
61%
Ovary
60%
Brain
48%
Liver
20%
Lung
14%
Gene Interaction Network
Click a node to explore
PKDREJZP3PKD2L2PKD1L2PKD1L1CACHD1CACNA2D2
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9NTG1
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.74LoF Tolerant
pLIⓘ
0.25Tolerant
Observed/Expected LoF0.50 [0.17–1.74]
RankingsWhere PKDREJ stands among ~20K protein-coding genes
  • #15,657of 20,598
    Most Researched15
  • #16,299of 17,882
    Most Constrained (LOEUF)1.74
Genes detectedPKDREJ
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Polycystic kidney disease and receptor for egg jelly is a plasma membrane protein of mouse sperm head.
PMID: 16261614
Mol Reprod Dev · 2006
1.00
2
Sexual selection and the adaptive evolution of PKDREJ protein in primates and rodents.
PMID: 25304980
Mol Hum Reprod · 2015
0.90
3
Evidence of amino acid diversity-enhancing selection within humans and among primates at the candidate sperm-receptor gene PKDREJ.
PMID: 17564962
Am J Hum Genet · 2007
0.80
4
The TRPP subfamily and polycystin-1 proteins.
PMID: 24756726
Handb Exp Pharmacol · 2014
0.70
5
Identification of a human homologue of the sea urchin receptor for egg jelly: a polycystic kidney disease-like protein.
PMID: 9949214
Hum Mol Genet · 1999
0.60