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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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GEMIN6
gem nuclear organelle associated protein 6
Chromosome 2 · 2p22.1
NCBI Gene: 79833Ensembl: ENSG00000152147.12HGNC: HGNC:20044UniProt: Q8WXD5
63PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nuclear bodySMN complexSMN-Sm protein complexspliceosomal snRNP assemblyneurodegenerative diseaselung adenocarcinomacystitiscolorectal cancer
✦AI Summary

GEMIN6 is a structural component of the SMN (survival of motor neurons) complex, a macromolecular machine essential for spliceosomal snRNP biogenesis 1. GEMIN6 adopts a canonical Sm fold and forms a stable heterodimer with GEMIN7, interacting via an interface similar to Sm proteins themselves 2. Within the SMN complex, GEMIN6 associates with GEMIN7 and Unrip to form a functional module whose recruitment to SMN requires GEMIN8 3. This Gemin6/7/Unrip subunit specializes in organizing and recruiting Sm proteins to the snRNP assembly pathway 3, and also facilitates assembly of U4 snRNP-specific proteins through interactions with the NUFIP/R2TP chaperone system 4. Beyond its canonical spliceosomal role, GEMIN6 has recently emerged as relevant in cancer progression: in TFE3-rearranged renal cell carcinoma, GEMIN6 promotes mRNA maturation of Aurora B kinase (AURKB) and drives tumor proliferation, migration, and invasion 5. These findings establish GEMIN6 as both a conserved component of the core snRNP assembly machinery and an unexpected nodal point in cancer-associated signaling pathways.

Sources cited
1
GEMIN6 identification as SMN complex component; localization to gems; interaction with Sm proteins
PMID: 11748230
2
GEMIN6-GEMIN7 heterodimer structure; canonical Sm fold adoption; binding to Sm proteins
PMID: 15939020
3
GEMIN6/7/Unrip module recruitment by GEMIN8; role in Sm protein recruitment to snRNP assembly
PMID: 17023415
4
GEMIN6 interaction with NUFIP and HSP90/R2TP chaperone system; U4 snRNP-specific protein assembly
PMID: 26275778
5
GEMIN6 promotion of AURKB mRNA maturation; role in TFE3-RCC progression and tumor phenotypes
PMID: 40849584
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.50Moderate
lung adenocarcinomaOpen Targets
0.07Suggestive
cystitisOpen Targets
0.03Suggestive
colorectal cancerOpen Targets
0.01Suggestive
severe malarial anemiaOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
infectionOpen Targets
0.01Suggestive
renal cell carcinomaOpen Targets
0.00Suggestive
breast carcinomaOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
nervous system diseaseOpen Targets
0.00Suggestive
acute myeloid leukemiaOpen Targets
0.00Suggestive
amyotrophic lateral sclerosisOpen Targets
0.00Suggestive
motor neuron diseaseOpen Targets
0.00Suggestive
invasive breast ductal carcinomaOpen Targets
0.00Suggestive
spinal muscular atrophyOpen Targets
0.00Suggestive
clear cell renal carcinomaOpen Targets
0.00Suggestive
colorectal adenocarcinomaOpen Targets
0.00Suggestive
Hereditary breast cancerOpen Targets
0.00Suggestive
Uterine CarcinosarcomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SNRPGProtein interaction100%SNRPD1Protein interaction100%SNRPD2Protein interaction100%SNRPFProtein interaction100%SNRPBProtein interaction100%SNRPEProtein interaction100%
Tissue Expression6 tissues
Liver
100%
Brain
64%
Ovary
57%
Heart
48%
Lung
39%
Bone Marrow
15%
Gene Interaction Network
Click a node to explore
GEMIN6SNRPGSNRPD1SNRPD2SNRPFSNRPBSNRPE
PROTEIN STRUCTURE
Preparing viewer…
PDB7BBL · 1.52 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.36LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.85 [0.56–1.36]
RankingsWhere GEMIN6 stands among ~20K protein-coding genes
  • #7,364of 20,598
    Most Researched63
  • #14,168of 17,882
    Most Constrained (LOEUF)1.36
Genes detectedGEMIN6
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
LGI3 promotes the progression of TFE3-rearranged renal cell carcinoma through GEMIN6/AURKB axis.
PMID: 40849584
Oncogene · 2025
1.00
2
Identification and characterization of Gemin7, a novel component of the survival of motor neuron complex.
PMID: 12065586
J Biol Chem · 2002
0.90
3
The Gemin6-Gemin7 heterodimer from the survival of motor neurons complex has an Sm protein-like structure.
PMID: 15939020
Structure · 2005
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
Novel interactors of the Drosophila Survival Motor Neuron (SMN) Complex suggest its full conservation.
PMID: 28949413
FEBS Lett · 2017
0.60