GEMIN6
Gem nuclear organelle associated protein 6
Gene Information Card
| Symbol | GEMIN6 |
|---|---|
| Full Name | gem nuclear organelle associated protein 6 |
| Gene Type | protein-coding |
| Chromosomal Location | 2p22.1 |
| NCBI Gene ID | 79833 ncbi.nlm.nih.gov/gene/79833 |
| Ensembl ID | ENSG00000152127 |
| UniProt ID | Q8WXD5 |
| OMIM ID | 607006 |
| HGNC ID | 20063 |
| Aliases | GEMIN6, gemin6, SIP3 |
Description
GEMIN6 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 interacts directly with GEMIN7 and SMN1, contributing to the cytoplasmic assembly of snRNP core particles. Defects in the SMN complex are associated with spinal muscular atrophy (SMA).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spinal Muscular Atrophy (SMA) | GEMIN6 is part of the SMN complex; reduced SMN complex function leads to motor neuron degeneration. | PMID: 11590146 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Heart | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.0 | Moderate expression |
| HEK293 | 8.5 | Moderate expression |
| K562 | 6.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in GEMIN6.
Gain of Function (GOF)
No gain-of-function variants reported.
Dominant Negative (DN)
No dominant-negative variants reported.
View complete mutation data：
Gene Ontology (GO)
| • spliceosomal snRNP assembly (GO:0000245) | • nucleus (GO:0005634) |
| • cytoplasm (GO:0005737) | • SMN complex (GO:0032797) |
| • ribosome binding (GO:0043022) |
Pathways
• SMN complex assembly of spliceosomal snRNPs (Reactome: R-HSA-191859)
Protein Summary
GEMIN6 is a 167-amino-acid protein (18.8 kDa) that contains a Tudor-like domain and is localized to both the cytoplasm and nucleus. It forms a stable heterodimer with GEMIN7 and is required for efficient snRNP assembly. The protein is ubiquitously expressed with highest levels in testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GEMIN6 Knockout HEK293 Cell Line | EDJ-KQ51704 | Human | 79833 | Details Get a Quote |
| GEMIN6 Knockout HeLa Cell Line | EDJ-KQ57238 | Human | 79833 | Details Get a Quote |
| GEMIN6 Knockout A-549 Cell Line | EDJ-KQ65751 | Human | 79833 | Details Get a Quote |
| GEMIN6 Knockout HCT 116 Cell Line | EDJ-KQ74169 | Human | 79833 | Details Get a Quote |
