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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PDCL2
phosducin like 2
Chromosome 4 Β· 4q12
NCBI Gene: 132954Ensembl: ENSG00000163440.13HGNC: HGNC:29524UniProt: Q8N4E4
10PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
acrosome assemblyprotein foldingspermatid developmentcytoplasmmale infertilityfrozen shoulderhypertensionazoospermia
✦AI Summary

PDCL2 (phosducin like 2) is a testis-specific protein essential for male fertility and spermiogenesis in mammals. The protein is exclusively expressed in the male reproductive tract and localizes to the testicular endoplasmic reticulum 1. PDCL2 plays a critical role in sperm acrosome formation during spermiogenesis, with knockout studies demonstrating that loss of PDCL2 causes male sterility due to abnormal acrosome biogenesis 1. Mice lacking PDCL2 exhibit globozoospermia, characterized by round-headed spermatozoa with defective acrosomal cap formation, aberrant mitochondrial localization in sperm heads, and misshapen nuclei 1. The protein's essential function in sperm development makes it a potential target for male contraception, with researchers developing screening assays to identify PDCL2 ligands as potential contraceptive agents 2. PDCL2 has also been classified as a Cancer/Testis gene, showing expression in germ cells and derepression in some somatic tumors 3. Additionally, the PDCL2 locus has been identified as a candidate gene in sex-specific genomic susceptibility regions for opioid dependence 4. These findings establish PDCL2 as a key regulator of male reproductive function with potential clinical applications.

Sources cited
1
PDCL2 is testis-specific, localizes to testicular ER, and is essential for acrosome formation and male fertility
PMID: 36278277
2
PDCL2 is a potential target for male contraception with screening assays developed for ligand identification
PMID: 36209044
3
PDCL2 is classified as a Cancer/Testis gene expressed in germ cells and derepressed in tumors
PMID: 33426787
4
PDCL2 locus identified as candidate gene in sex-specific genomic susceptibility for opioid dependence
PMID: 27762075
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
male infertilityOpen Targets
0.33Weak
frozen shoulderOpen Targets
0.23Weak
hypertensionOpen Targets
0.13Weak
azoospermiaOpen Targets
0.10Weak
Abnormality of the skeletal systemOpen Targets
0.10Suggestive
partial chromosome Y deletionOpen Targets
0.07Suggestive
spermatogenic failure 78Open Targets
0.07Suggestive
spermatogenic failure, X-linked, 7Open Targets
0.07Suggestive
deafness-infertility syndromeOpen Targets
0.07Suggestive
spermatogenic failure 85Open Targets
0.07Suggestive
spermatogenic failure 72Open Targets
0.07Suggestive
spermatogenic failure 91Open Targets
0.07Suggestive
spermatogenic failure 42Open Targets
0.06Suggestive
spermatogenic failure 65Open Targets
0.06Suggestive
spermatogenic failure, X-linked, 5Open Targets
0.06Suggestive
spermatogenic failure 18Open Targets
0.06Suggestive
spermatogenic failure 27Open Targets
0.06Suggestive
spermatogenic failure 46Open Targets
0.06Suggestive
spermatogenic failure 84Open Targets
0.06Suggestive
spermatogenic failure 93Open Targets
0.06Suggestive
Pathogenic Variants1
NM_152401.3(PDCL2):c.128-1G>APathogenic
Male infertility
β˜†β˜†β˜†β˜†2023
View on ClinVar β†—
Related Genes
PLP2Protein interaction89%SPINK2Shared pathway67%RFX2Shared pathway50%ACRBPShared pathway50%ACTL7AShared pathway40%PPIAL4HShared pathway33%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
0%
Ovary
0%
Brain
0%
Lung
0%
Heart
0%
Gene Interaction Network
Click a node to explore
PDCL2PLP2SPINK2RFX2ACRBPACTL7APPIAL4H
PROTEIN STRUCTURE
Preparing viewer…
PDB3EVI Β· 2.70 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.27LoF Tolerant
pLIβ“˜
0.01Tolerant
Observed/Expected LoF0.70 [0.41–1.27]
RankingsWhere PDCL2 stands among ~20K protein-coding genes
  • #17,140of 20,598
    Most Researched10
  • #5,477of 5,498
    Most Pathogenic Variants1
  • #13,379of 17,882
    Most Constrained (LOEUF)1.27
Genes detectedPDCL2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
PDCL2 is essential for sperm acrosome formation and male fertility in mice.
PMID: 36278277
Andrology Β· 2023
1.00
2
Advancing ASMS with LC-MS/MS for the discovery of novel PDCL2 ligands from DNA-encoded chemical library selections.
PMID: 36209044
Andrology Β· 2023
0.90
3
Combined RNA/tissue profiling identifies novel Cancer/testis genes.
PMID: 33426787
Mol Oncol Β· 2021
0.80
4
Genotoxicity of platinum and palladium compounds in human and bacterial cells.
PMID: 9093382
Mutat Res Β· 1997
0.70
5
Unique and common TCR repertoire features of Ni
PMID: 36005389
Allergy Β· 2023
0.60