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9 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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GEMIN8
gem nuclear organelle associated protein 8
Chromosome X · Xp22.2
NCBI Gene: 54960Ensembl: ENSG00000046647.16HGNC: HGNC:26044UniProt: Q9NWZ8
42PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingspliceosomal snRNP assemblynucleuscytosolneurodegenerative diseaseglaucomaopen-angle glaucomasevere malarial anemia
✦AI Summary

GEMIN8 is a core scaffolding component of the SMN (Survival Motor Neuron) complex that catalyzes assembly of spliceosomal small nuclear ribonucleoproteins (snRNPs), essential for pre-mRNA splicing 1. GEMIN8 binds directly to SMN and mediates its interaction with the Gemin6/Gemin7 heterodimer, forming a central structural hub alongside SMN and Gemin7 2. This positioning enables recruitment of Sm proteins to the snRNP assembly pathway 1. Loss of GEMIN8 disrupts SMN complex architecture and impairs Sm protein association with snRNAs, blocking snRNP biogenesis 1. GEMIN8 is required for proper Cajal body localization of the SMN complex and interacts with protein phosphatase PP1γ to regulate SMN phosphorylation-dependent localization 3. Phosphorylation of SMN affects its association with GEMIN8 4. In sporadic amyotrophic lateral sclerosis, altered GEMIN8 expression patterns in vulnerable motoneurons may contribute to disease pathogenesis, though this remains incompletely understood 5. The GEMIN8 orthologue is conserved across metazoans and is required for neuromuscular function and survival 6.

Sources cited
1
GEMIN8 binds SMN, mediates Gemin6/7 interaction, and is essential for SMN complex architecture and Sm protein recruitment to snRNP assembly
PMID: 17023415
2
GEMIN8 is a central component of SMN complex alongside SMN and Gemin7, with modular interaction architecture
PMID: 17178713
3
GEMIN8 interacts with PP1γ and regulates SMN phosphorylation-dependent localization to Cajal bodies
PMID: 22454514
4
PKA phosphorylation of SMN affects SMN association with GEMIN8
PMID: 21609790
5
GEMIN8 expression is altered in sporadic ALS, with potential implications for motoneuron vulnerability
PMID: 30786668
6
GEMIN8 orthologue is conserved across metazoans and required for neuromuscular function and survival
PMID: 28949413
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.53Moderate
glaucomaOpen Targets
0.14Weak
open-angle glaucomaOpen Targets
0.09Suggestive
severe malarial anemiaOpen Targets
0.01Suggestive
psoriasisOpen Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.00Suggestive
amyotrophic lateral sclerosisOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
acute myeloid leukemiaOpen Targets
0.00Suggestive
cervical cancerOpen Targets
0.00Suggestive
esophageal cancerOpen Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
lung cancerOpen Targets
0.00Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.00Suggestive
ovarian serous cystadenocarcinomaOpen Targets
0.00Suggestive
papillary renal cell carcinomaOpen Targets
0.00Suggestive
sarcomaOpen Targets
0.00Suggestive
thyroid cancer, nonmedullary, 1Open Targets
0.00Suggestive
Uterine CarcinosarcomaOpen Targets
0.00Suggestive
uterine corpus endometrial carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
COILShared pathway100%SNRPGProtein interaction100%SNRPD1Protein interaction100%SNRPD2Protein interaction100%SNRPFProtein interaction100%SNRNP70Protein interaction100%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
56%
Heart
55%
Liver
51%
Lung
49%
Brain
37%
Gene Interaction Network
Click a node to explore
GEMIN8COILSNRPGSNRPD1SNRPD2SNRPFSNRNP70
PROTEIN STRUCTURE
Preparing viewer…
PDB7BBL · 1.52 Å · X-ray
View on RCSB ↗
RankingsWhere GEMIN8 stands among ~20K protein-coding genes
  • #9,874of 20,598
    Most Researched42
Genes detectedGEMIN8
Sources retrieved9 papers
Response time—
📄 Sources
9▼
1
Novel interactors of the Drosophila Survival Motor Neuron (SMN) Complex suggest its full conservation.
PMID: 28949413
FEBS Lett · 2017
1.00
2
Gemin8 is required for the architecture and function of the survival motor neuron complex.
PMID: 17023415
J Biol Chem · 2006
0.89
3
Identification and structural analysis of the Schizosaccharomyces pombe SMN complex.
PMID: 33754639
Nucleic Acids Res · 2021
0.78
4
Sporadic amyotrophic lateral sclerosis: is SMN-Gemins protein complex of importance for the relative resistance of oculomotor nucleus motoneurons to degeneration?
PMID: 30786668
Folia Neuropathol · 2018
0.67
5
A role for protein phosphatase PP1γ in SMN complex formation and subnuclear localization to Cajal bodies.
PMID: 22454514
J Cell Sci · 2012
0.56