LSM2 Gene
LSM2 Homolog, U6 Small Nuclear RNA and mRNA Degradation Associated
Gene Information Card
| Symbol | LSM2 |
|---|---|
| Full Name | LSM2 homolog, U6 small nuclear RNA and mRNA degradation associated |
| Gene Type | protein-coding |
| Chromosomal Location | 3p14.3 |
| NCBI Gene ID | 57819 ncbi.nlm.nih.gov/gene/57819 |
| Ensembl ID | ENSG00000114062 |
| UniProt ID | Q9Y333 |
| OMIM ID | 607282 |
| HGNC ID | 20462 |
| Aliases | C6orf28, MDS017, SNRNP, YBL026W |
Description
LSM2 encodes a member of the LSm (Sm-like) protein family, which forms a heptameric ring complex that binds to the 3' end of U6 small nuclear RNA (snRNA) and is involved in pre-mRNA splicing. The protein also participates in mRNA degradation pathways. LSM2 is essential for spliceosome assembly and function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spliceosomal disease (general) | Mutations in LSM2 disrupt U6 snRNA binding and splicing efficiency | ClinVar |
| Cancer (pan-cancer) | Altered LSM2 expression linked to splicing dysregulation in tumors | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lymph node | 10.8 | Medium |
| Brain | 8.5 | Low |
| Liver | 6.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 12.1 | Cervical cancer cell line |
| K562 | 9.4 | Leukemia cell line |
| HEK293 | 11.0 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | 0.01% | Unknown effect on splicing |
| c.214C>T | Nonsense | 0.005% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to truncated protein and loss of U6 snRNA binding
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • U6 snRNA binding |
| • spliceosomal complex assembly | • mRNA splicing |
| • via spliceosome | • nuclear speck |
Pathways
• Spliceosome (KEGG hsa03040)
• mRNA surveillance pathway (KEGG hsa03015)
Protein Summary
LSM2 is a 95-amino-acid protein that forms part of the LSm2-8 complex, which binds the 3' end of U6 snRNA. It is localized in the nucleus and is critical for spliceosome assembly and pre-mRNA splicing. The protein has a conserved Sm domain.
Related Services
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|---|---|---|---|---|
| No Data | ||||
