GEMIN2
Gem Nuclear Organelle Associated Protein 2
Gene Information Card
| Symbol | GEMIN2 |
|---|---|
| Full Name | gem nuclear organelle associated protein 2 |
| Gene Type | protein coding |
| Chromosomal Location | 14q13.3 |
| NCBI Gene ID | 8487 ncbi.nlm.nih.gov/gene/8487 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | O14893 |
| OMIM ID | 300060 |
| HGNC ID | 15684 |
| Aliases | SIP1, SIP1-delta, GEMIN2 |
Description
GEMIN2 encodes a component of the SMN complex, which is essential for the assembly of spliceosomal small nuclear ribonucleoproteins (snRNPs). The protein interacts directly with SMN1 and is involved in the cytoplasmic assembly of snRNPs, a critical step in pre-mRNA splicing. Defects in this gene or its interactions are linked to spinal muscular atrophy (SMA).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spinal Muscular Atrophy | Reduced SMN complex activity leads to motor neuron degeneration | OMIM #253300 |
| Amyotrophic Lateral Sclerosis | Altered SMN complex function may contribute to motor neuron vulnerability | PubMed 21917937 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 18.5 | High |
| Brain | 10.2 | Medium |
| Heart | 8.7 | Medium |
| Liver | 5.3 | Low |
| Skeletal Muscle | 7.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 12.4 | Cervical carcinoma |
| HEK293 | 11.0 | Embryonic kidney |
| SH-SY5Y | 9.8 | Neuroblastoma |
| HepG2 | 6.5 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.22G>A (p.Gly8Arg) | Missense | Rare | Reduced SMN binding |
| c.404C>T (p.Pro135Leu) | Missense | Rare | Impaired snRNP assembly |
Mutation functional classification
Loss of Function (LOF)
Missense mutations that disrupt SMN binding or complex stability reduce snRNP assembly activity.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported.
Dominant Negative (DN)
Not established; mutations are typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • snRNP protein import into nucleus | • spliceosomal snRNP assembly |
| • SMN complex | • cytoplasm |
| • nucleus |
Pathways
• SMN complex assembly pathway
• mRNA splicing
Protein Summary
GEMIN2 is a 280-amino-acid protein that forms part of the SMN complex. It contains a Tudor-like domain and is essential for the cytoplasmic assembly of snRNPs. The protein localizes to both the cytoplasm and the nucleus, particularly in gems (nuclear bodies).
Related Services
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| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| No Data | ||||
