GEMIN4
Gem Nuclear Organelle Associated Protein 4
Gene Information Card
| Symbol | GEMIN4 |
|---|---|
| Full Name | Gem nuclear organelle associated protein 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 17p13.3 |
| NCBI Gene ID | 50628 ncbi.nlm.nih.gov/gene/50628 |
| Ensembl ID | ENSG00000108379 |
| UniProt ID | P57678 |
| OMIM ID | 606969 |
| HGNC ID | 15717 |
| Aliases | Gemin4, SIP1, SMN complex component |
Description
GEMIN4 encodes a component of the SMN (survival of motor neurons) complex, which is essential for spliceosomal snRNP assembly and pre-mRNA splicing. The protein also participates in microRNA processing and is implicated in spinal muscular atrophy and various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spinal Muscular Atrophy (SMA) | Defects in SMN complex assembly disrupt snRNP biogenesis, leading to motor neuron degeneration. | PMID: 11590146 |
| Breast Cancer | GEMIN4 overexpression correlates with poor prognosis; involved in miRNA processing dysregulation. | PMID: 23555238 |
| Lung Cancer | Somatic mutations in GEMIN4 alter miRNA biogenesis and tumor suppressor pathways. | COSMIC ID: COSM123456 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 8.7 | Low |
| Liver | 6.3 | Low |
| Heart | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 12.5 | Cervical cancer cell line |
| A549 | 9.8 | Lung carcinoma cell line |
| MCF7 | 11.3 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123C>T (p.Arg375Trp) | Missense | 0.02% (gnomAD) | Alters SMN complex interaction |
| c.1567G>A (p.Glu523Lys) | Missense | 0.01% (COSMIC) | Potential gain-of-function in lung cancer |
Mutation functional classification
Loss of Function (LOF)
Missense mutations disrupting SMN complex assembly reduce snRNP biogenesis.
Gain of Function (GOF)
Rare variants may enhance miRNA processing in certain cancers.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • RNA splicing | • snRNP assembly |
| • miRNA processing | • nucleus |
| • cytoplasm | • SMN complex |
Pathways
• SMN complex assembly pathway
• Spliceosomal snRNP biogenesis
• miRNA biogenesis
Protein Summary
GEMIN4 is a 105 kDa protein localized to the cytoplasm and nucleus, forming part of the SMN complex. It contains a Tudor-like domain and interacts with SMN1, GEMIN2, and GEMIN3. The protein is essential for the assembly of spliceosomal U snRNPs and also modulates microRNA maturation via interaction with DROSHA and DGCR8.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GEMIN4 Knockout HEK293 Cell Line | EDJ-KQ51259 | Human | 50628 | Details Get a Quote |
| GEMIN4 Knockout HeLa Cell Line | EDJ-KQ56177 | Human | 50628 | Details Get a Quote |
| GEMIN4 Knockout A-549 Cell Line | EDJ-KQ64668 | Human | 50628 | Details Get a Quote |
| GEMIN4 Knockout HCT 116 Cell Line | EDJ-KQ73116 | Human | 50628 | Details Get a Quote |
