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GeneE
2 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.
PNMA3
PNMA family member 3
Chromosome X Β· Xq28
NCBI Gene: 29944Ensembl: ENSG00000183837.10HGNC: HGNC:18742UniProt: Q9UL41
12PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingpositive regulation of apoptotic processnucleic acid bindingzinc ion bindinginfectionhypouricemia, renal, 2glioblastoma multiformemelanoma
✦AI Summary

Based on limited published evidence, PNMA3 is a neuronal protein with brain and testis-restricted expression 1. Database annotations indicate PNMA3 functions in protein binding and positive regulation of apoptotic process. PNMA3 is a retrotransposon-derived gene that generates alternative protein isoforms through -1 programmed ribosomal frameshifting, a mechanism conserved across mammals 2. By analogy to pro-apoptotic MOAP1, PNMA3 may interact with bcl-2 family members to regulate apoptosis 1.

Sources cited
1
PNMA3 is a neuronal protein with brain and testis-restricted expression; may have similar functional interactions to pro-apoptotic proteins
PMID: 16214224
2
PNMA3 generates alternative protein isoforms through -1 programmed ribosomal frameshifting; subject to positive selection in primates
PMID: 39101471
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
infectionOpen Targets
0.07Suggestive
hypouricemia, renal, 2Open Targets
0.04Suggestive
glioblastoma multiformeOpen Targets
0.03Suggestive
melanomaOpen Targets
0.03Suggestive
SplenomegalyOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.02Suggestive
mitochondrial diseaseOpen Targets
0.02Suggestive
astrocytomaOpen Targets
0.02Suggestive
breast neoplasmOpen Targets
0.01Suggestive
coinfectionOpen Targets
0.01Suggestive
oligodendrogliomaOpen Targets
0.01Suggestive
multiple myelomaOpen Targets
0.01Suggestive
Miyoshi myopathyOpen Targets
0.01Suggestive
breast cancerOpen Targets
0.01Suggestive
lymphomaOpen Targets
0.00Suggestive
Barth syndromeOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
colorectal carcinomaOpen Targets
0.00Suggestive
urothelial carcinomaOpen Targets
0.00Suggestive
viral diseaseOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
PNMA2Shared pathway100%PHLDA1Shared pathway100%BLIDShared pathway100%C3orf38Shared pathway100%PNMA5Shared pathway100%STPG1Shared pathway100%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
46%
Heart
31%
Ovary
10%
Liver
7%
Lung
4%
Gene Interaction Network
Click a node to explore
PNMA3PNMA2PHLDA1BLIDC3orf38PNMA5STPG1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q9UL41
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.68LoF Tolerant
pLIβ“˜
0.40Tolerant
Observed/Expected LoF0.40 [0.25–0.68]
RankingsWhere PNMA3 stands among ~20K protein-coding genes
  • #16,538of 20,598
    Most Researched12
  • #5,013of 17,882
    Most Constrained (LOEUF)0.68
Genes detectedPNMA3
Sources retrieved2 papers
Response timeβ€”
πŸ“„ Sources
2
1
The human PNMA family: novel neuronal proteins implicated in paraneoplastic neurological disease.
PMID: 16214224
J Neuroimmunol Β· 2005
1.00
2
Evolution of Virus-like Features and Intrinsically Disordered Regions in Retrotransposon-derived Mammalian Genes.
PMID: 39101471
Mol Biol Evol Β· 2024
0.50