GEMIN8
Gem Nuclear Organelle Associated Protein 8
Gene Information Card
| Symbol | GEMIN8 |
|---|---|
| Full Name | gem nuclear organelle associated protein 8 |
| Gene Type | protein-coding |
| Chromosomal Location | Xp22.2 |
| NCBI Gene ID | 54960 ncbi.nlm.nih.gov/gene/54960 |
| Ensembl ID | ENSG00000146648 |
| UniProt ID | Q9NWZ8 |
| OMIM ID | 300797 |
| HGNC ID | 29628 |
| Aliases | FLJ12505, MGC131970, gemin-8 |
Description
GEMIN8 encodes a component of the survival of motor neuron (SMN) complex, which is essential for the assembly of spliceosomal small nuclear ribonucleoproteins (snRNPs). The protein localizes to nuclear gems and plays a critical role in snRNP biogenesis and pre-mRNA splicing.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spinal Muscular Atrophy (SMA) | Defects in SMN complex assembly; GEMIN8 mutations may impair snRNP biogenesis, leading to motor neuron degeneration. | Limited evidence; indirect association via SMN complex dysfunction (OMIM #300797). |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 6.1 | Low |
| Liver | 4.7 | Low |
| Heart | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.2 | Cervical cancer cell line |
| HEK293 | 9.8 | Embryonic kidney cells |
| K562 | 7.5 | Leukemia cell line |
| HepG2 | 6.3 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | Rare | Potential loss of function; not validated in large cohorts |
| c.200C>T | nonsense | Rare | Predicted to cause premature truncation; no known disease association |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants likely lead to loss of SMN complex function.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • snRNP assembly | • mRNA splicing |
| • SMN complex | • nuclear gem |
| • RNA binding |
Pathways
• Spliceosome (KEGG hsa03040)
• SMN complex assembly (Reactome R-HSA-191859)
Protein Summary
GEMIN8 is a 25.6 kDa protein (238 amino acids) that interacts with SMN1 and other gemins to form the SMN complex. It contains a Tudor-like domain and is essential for the cytoplasmic assembly of snRNPs. The protein is ubiquitously expressed with highest levels in testis and brain.
Related Services
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|---|---|---|---|---|
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