GEMIN7
Gem Nuclear Organelle Associated Protein 7
Gene Information Card
| Symbol | GEMIN7 |
|---|---|
| Full Name | gem nuclear organelle associated protein 7 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.32 |
| NCBI Gene ID | 79760 ncbi.nlm.nih.gov/gene/79760 |
| Ensembl ID | ENSG00000142227 |
| UniProt ID | Q9H840 |
| OMIM ID | 607387 |
| HGNC ID | 29677 |
| Aliases | SIP3, GEMIN7, SIP3 |
Description
GEMIN7 (gem nuclear organelle associated protein 7) is a protein-coding gene located on chromosome 19q13.32. It encodes a component of the SMN (survival of motor neuron) complex, which is essential for the assembly of spliceosomal small nuclear ribonucleoproteins (snRNPs). The SMN complex, including GEMIN7, plays a critical role in pre-mRNA splicing and is implicated in spinal muscular atrophy (SMA).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spinal Muscular Atrophy | Reduced SMN complex function leads to motor neuron degeneration | OMIM 607387 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 14.2 | Medium |
| Brain | 8.5 | Low |
| Heart | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.0 | Moderate expression |
| HeLa | 9.8 | Moderate expression |
| K562 | 7.5 | Low expression |
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 |
| c.208C>T | nonsense | Rare | Premature truncation |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations may lead to truncated protein and loss of SMN complex function.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • GO:0000245 (GO:0000245) | • GO:0005634 (GO:0005634) |
| • GO:0005681 (GO:0005681) | • GO:0032797 (GO:0032797) |
| • GO:0043021 (GO:0043021) |
Pathways
• Spliceosomal snRNP assembly (SMN complex)
• mRNA splicing
Protein Summary
GEMIN7 is a 14.6 kDa protein that interacts with SMN1 and other gemins to form the SMN complex. It localizes to the cytoplasm and nucleus, particularly in gems (nuclear bodies). The protein is essential for the assembly of Sm core domains on snRNAs, a prerequisite for pre-mRNA splicing.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GEMIN7 Knockout HEK293 Cell Line | EDJ-KQ51697 | Human | 79760 | Details Get a Quote |
| GEMIN7 Knockout HeLa Cell Line | EDJ-KQ57221 | Human | 79760 | Details Get a Quote |
| GEMIN7 Knockout A-549 Cell Line | EDJ-KQ65736 | Human | 79760 | Details Get a Quote |
| GEMIN7 Knockout HCT 116 Cell Line | EDJ-KQ74153 | Human | 79760 | Details Get a Quote |
