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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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GEMIN7
gem nuclear organelle associated protein 7
Chromosome 19 · 19q13.32
NCBI Gene: 79760Ensembl: ENSG00000142252.12HGNC: HGNC:20045UniProt: Q9H840
49PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
SMN-Sm protein complexprotein bindingspliceosomal snRNP assemblyGemini of Cajal bodiesneurodegenerative diseaseAlzheimer diseaseinfectioncervical carcinoma
✦AI Summary

GEMIN7 is a core component of the SMN (survival of motor neurons) complex, which functions as an assembly machine for spliceosomal small nuclear ribonucleoproteins (snRNPs)—the building blocks of the spliceosome 1. GEMIN7 adopts a canonical Sm fold structurally similar to Sm proteins, despite lacking sequence homology, and exists as a stable heterodimer with GEMIN6 2. Within the SMN complex, GEMIN7 interacts directly with SMN and GEMIN6, mediating GEMIN6 association with the SMN complex and facilitating recruitment of Sm proteins to the snRNP assembly pathway 13. GEMIN8 bridges GEMIN7 and GEMIN6 to SMN, and disruption of this interaction impairs Sm protein recruitment but not snRNA binding 3. GEMIN7 specifically interacts with SmE and other Sm proteins essential for core snRNP formation 1. In disease contexts, GEMIN7 expression is significantly reduced in oculomotor nucleus motoneurons compared to spinal cord motoneurons in sporadic amyotrophic lateral sclerosis patients 4. Additionally, GEMIN7 has emerged as a prognostic biomarker in bladder cancer, where altered expression correlates with patient survival outcomes 5. A candidate GEMIN7 variant was identified in a Saudi Arabian cohort, suggesting potential disease association 6.

Sources cited
1
GEMIN7 is a novel SMN complex component that interacts with SMN, GEMIN6, and Sm proteins including SmE
PMID: 12065586
2
GEMIN7 forms a heterodimer with GEMIN6 that adopts an Sm protein-like fold and binds to Sm proteins
PMID: 15939020
3
GEMIN8 mediates GEMIN7/GEMIN6 association with SMN and their interaction is critical for Sm protein recruitment
PMID: 17023415
4
GEMIN7 expression is significantly reduced in oculomotor nucleus motoneurons versus spinal cord motoneurons in sporadic ALS patients
PMID: 30786668
5
GEMIN7 is an independent prognosis-associated RNA-binding protein used in a bladder cancer prognostic model
PMID: 33685397
6
A candidate GEMIN7 variant was identified in a Saudi Arabian genetic disease cohort
PMID: 28600779
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.49Moderate
Alzheimer diseaseOpen Targets
0.04Suggestive
infectionOpen Targets
0.03Suggestive
cervical carcinomaOpen Targets
0.03Suggestive
adolescent idiopathic scoliosisOpen Targets
0.02Suggestive
depressive disorderOpen Targets
0.01Suggestive
systemic juvenile idiopathic arthritisOpen Targets
0.01Suggestive
bladder transitional cell carcinomaOpen Targets
0.01Suggestive
Infantile dystonia-parkinsonismOpen Targets
0.00Suggestive
parkinsonism-dystonia, infantileOpen Targets
0.00Suggestive
severe malarial anemiaOpen Targets
0.00Suggestive
Cognitive impairmentOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
bacterial diseaseOpen Targets
0.00Suggestive
breast cancerOpen Targets
0.00Suggestive
cervical cancerOpen Targets
0.00Suggestive
lung cancerOpen Targets
0.00Suggestive
retinal degenerationOpen Targets
0.00Suggestive
gastric cancerOpen Targets
0.00Suggestive
thyroid cancer, nonmedullary, 1Open Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SNRPAShared pathway100%RBM42Shared pathway100%SNRPGProtein interaction100%SNRPD1Protein interaction100%SNRPD2Protein interaction100%SNRPFProtein interaction100%
Tissue Expression6 tissues
Liver
100%
Lung
68%
Bone Marrow
52%
Heart
49%
Ovary
37%
Brain
35%
Gene Interaction Network
Click a node to explore
GEMIN7SNRPARBM42SNRPGSNRPD1SNRPD2SNRPF
PROTEIN STRUCTURE
Preparing viewer…
PDB7BBL · 1.52 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.42LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF0.76 [0.43–1.42]
RankingsWhere GEMIN7 stands among ~20K protein-coding genes
  • #8,942of 20,598
    Most Researched49
  • #14,650of 17,882
    Most Constrained (LOEUF)1.42
Genes detectedGEMIN7
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
PMID: 28600779
Hum Genet · 2017
1.00
2
The Gemin6-Gemin7 heterodimer from the survival of motor neurons complex has an Sm protein-like structure.
PMID: 15939020
Structure · 2005
0.90
3
Identification and characterization of Gemin7, a novel component of the survival of motor neuron complex.
PMID: 12065586
J Biol Chem · 2002
0.80
4
Gemin8 is required for the architecture and function of the survival motor neuron complex.
PMID: 17023415
J Biol Chem · 2006
0.70
5
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
0.60