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4 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PRAMEF12
PRAME family member 12
Chromosome 1 Β· 1p36.21
NCBI Gene: 390999Ensembl: ENSG00000116726.5HGNC: HGNC:22125UniProt: O95522
4PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
ubiquitin-like ligase-substrate adaptor activityproteasome-mediated ubiquitin-dependent protein catabolic processcytoplasmCul2-RING ubiquitin ligase complexazoospermiapartial chromosome Y deletionspermatogenic failure 57spermatogenic failure 50
✦AI Summary

PRAMEF12 (PRAME family member 12) is a cancer/testis antigen with restricted expression in normal tissues, limited to the human testis 1. The protein functions as a component of ubiquitin-dependent protein degradation pathways, participating in Cul2-RING ubiquitin ligase complexes [GO annotations]. In spermatogenesis, PRAMEF12 is essential for maintaining the spermatogenic lineage; genetic ablation in mice arrests spermatogenesis, results in sterility, and reduces spermatogonial stem cell populations with decreased expression of SSC maintenance-related genes 2. The deficiency phenotype mirrors Sertoli cell-only syndrome observed in human male infertility 2. In cancer biology, PRAMEF12 demonstrates significant diagnostic value for glioma; knockdown inhibits cell proliferation, induces apoptosis, and causes S-phase cell cycle arrest 1. PRAMEF12 interacts with MAGE-B4, a cancer-testis antigen, though MAGE-B4 itself is dispensable for mouse spermatogenesis 3. Pathway enrichment analyses implicate PRAMEF12 in ubiquitin-mediated protein degradation and cancer-related signaling 1. These findings establish PRAMEF12 as a potential diagnostic biomarker for glioma with dual roles in reproductive biology and cancer pathogenesis.

Sources cited
1
PRAMEF12 is a cancer/testis gene with diagnostic value in glioma; knockdown inhibits proliferation, induces apoptosis, and causes S-phase arrest
PMID: 38913622
2
PRAMEF12 is essential for spermatogenesis maintenance; its ablation arrests spermatogenesis, causes sterility, and reduces spermatogonial stem cells
PMID: 31729367
3
MAGE-B4 is a binding partner of PRAMEF12 expressed in spermatogonia, but is dispensable for mouse spermatogenesis
PMID: 37451217
4
PRAMEF12 is identified as a rewired gene in Huntington's disease networks with potential involvement in ubiquitin protein ligase activity
PMID: 33049985
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
azoospermiaOpen Targets
0.09Suggestive
partial chromosome Y deletionOpen Targets
0.09Suggestive
spermatogenic failure 57Open Targets
0.08Suggestive
spermatogenic failure 50Open Targets
0.08Suggestive
spermatogenic failure 25Open Targets
0.08Suggestive
spermatogenic failure, X-linked, 2Open Targets
0.08Suggestive
spermatogenic failure 71Open Targets
0.08Suggestive
spermatogenic failure 63Open Targets
0.08Suggestive
isochromosomy YpOpen Targets
0.08Suggestive
gliomaOpen Targets
0.07Suggestive
spermatogenic failure 61Open Targets
0.07Suggestive
spermatogenic failure 62Open Targets
0.07Suggestive
spermatogenic failure 88Open Targets
0.07Suggestive
Male infertility with spermatogenesis disorder due to single gene mutationOpen Targets
0.07Suggestive
spermatogenic failure 59Open Targets
0.07Suggestive
spermatogenic failure 60Open Targets
0.07Suggestive
spermatogenic failure 73Open Targets
0.07Suggestive
spermatogenic failure 74Open Targets
0.07Suggestive
spermatogenic failure 48Open Targets
0.07Suggestive
isochromosomy YqOpen Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
PRAMEF27Shared pathway100%PRAMEF14Shared pathway100%PRAMEF15Shared pathway100%PRAMEF22Shared pathway100%PRAMEF20Shared pathway100%PRAMEF19Shared pathway100%
Tissue Expression6 tissues
Liver
0%
Brain
0%
Heart
0%
Lung
0%
Bone Marrow
0%
Ovary
0%
Gene Interaction Network
Click a node to explore
PRAMEF12PRAMEF27PRAMEF14PRAMEF15PRAMEF22PRAMEF20PRAMEF19
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt O95522
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.31LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.93 [0.68–1.31]
RankingsWhere PRAMEF12 stands among ~20K protein-coding genes
  • #18,718of 20,598
    Most Researched4
  • #13,829of 17,882
    Most Constrained (LOEUF)1.31
Genes detectedPRAMEF12
Sources retrieved4 papers
Response timeβ€”
πŸ“„ Sources
4
1
PMID: 38913622
Biomark Med Β· 2024
1.00
2
Sertoli cell-only phenotype and scRNA-seq define PRAMEF12 as a factor essential for spermatogenesis in mice.
PMID: 31729367
Nat Commun Β· 2019
0.75
3
MAGE-B4, a binding partner of PRAMEF12, is dispensable for spermatogenesis and male fertility in mice.
PMID: 37451217
Biochem Biophys Res Commun Β· 2023
0.50
4
Investigating the Transition of Pre-Symptomatic to Symptomatic Huntington's Disease Status Based on Omics Data.
PMID: 33049985
Int J Mol Sci Β· 2020
0.25