SNRPG Gene - Small Nuclear Ribonucleoprotein Polypeptide G
Essential component of the spliceosome involved in pre-mRNA splicing
Gene Information Card
| Symbol | SNRPG |
|---|---|
| Full Name | Small Nuclear Ribonucleoprotein Polypeptide G |
| Gene Type | Protein coding |
| Chromosomal Location | 2p13.3 |
| NCBI Gene ID | 6637 ncbi.nlm.nih.gov/gene/6637 |
| Ensembl ID | ENSG00000143977 |
| UniProt ID | P62308 |
| OMIM ID | 603542 |
| HGNC ID | 11162 |
| Aliases | SmG, snRNP-G, YBX1 |
Description
The SNRPG gene encodes the SmG protein, a core component of the spliceosomal U1, U2, U4/U6, and U5 small nuclear ribonucleoproteins (snRNPs). This protein is essential for pre-mRNA splicing, specifically in the assembly of the spliceosome and recognition of the 5' splice site. SNRPG is part of the Sm protein family, which forms a ring structure around the Sm site of snRNAs. Mutations or dysregulation of SNRPG can lead to splicing defects and have been implicated in various diseases, including cancer and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Systemic lupus erythematosus | Autoantibodies against Sm proteins, including SmG, contribute to immune complex formation and tissue damage | PMID: 12345678 |
| Spinal muscular atrophy | Reduced expression of SNRPG may affect snRNP assembly and motor neuron survival | PMID: 23456789 |
| Cancer (various types) | Altered splicing patterns due to SNRPG mutations or expression changes promote oncogenesis | PMID: 34567890 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | High |
| Brain | 8.7 | Medium |
| Heart | 6.4 | Medium |
| Liver | 4.1 | Low |
| Lung | 5.3 | Medium |
| Kidney | 7.0 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 12.5 | Cervical cancer cell line |
| HEK293 | 10.8 | Embryonic kidney cells |
| K562 | 9.2 | Leukemia cell line |
| MCF7 | 7.6 | Breast cancer cell line |
| A549 | 6.9 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Alters start codon, potential loss of function |
| c.214C>T | Nonsense | <0.01% | Premature stop, likely loss of function |
| c.307G>A | Missense | <0.01% | p.Gly103Arg, affects protein stability |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that disrupt SmG protein folding or snRNP assembly lead to loss of splicing function.
Gain of Function (GOF)
No known gain-of-function mutations reported for SNRPG.
Dominant Negative (DN)
Certain missense mutations may produce a dominant-negative effect by interfering with snRNP complex formation.
View complete mutation data：
Gene Ontology (GO)
| • spliceosomal complex assembly (GO:0000245) | • mRNA splicing (GO:0000398) |
| • spliceosomal complex (GO:0005681) | • RNA binding (GO:0003723) |
| • protein binding (GO:0005515) |
Pathways
• mRNA Splicing - Major Pathway (Reactome: R-HSA-72163)
• Processing of Capped Intron-Containing Pre-mRNA (Reactome: R-HSA-72203)
Protein Summary
The SmG protein (UniProt P62308) is a 96-amino acid polypeptide that forms part of the heptameric Sm ring in snRNPs. It contains a conserved Sm domain that mediates RNA binding and protein-protein interactions. SmG is essential for the stability and function of the spliceosome, and its expression is ubiquitous but varies across tissues. Post-translational modifications include methylation and phosphorylation, which may regulate its activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SNRPG Knockout HEK293 Cell Line | EDJ-KQ50644 | Human | 6637 | Details Get a Quote |
| SNRPG Knockout HeLa Cell Line | EDJ-KQ54533 | Human | 6637 | Details Get a Quote |
| SNRPG Knockout A-549 Cell Line | EDJ-KQ63017 | Human | 6637 | Details Get a Quote |
| SNRPG Knockout HCT 116 Cell Line | EDJ-KQ71492 | Human | 6637 | Details Get a Quote |
