SNRPD2: A Core Component of the Spliceosome
Essential for pre-mRNA splicing and implicated in cancer and developmental disorders
Gene Information Card
| Symbol | SNRPD2 |
|---|---|
| Full Name | Small Nuclear Ribonucleoprotein D2 Polypeptide |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.32 |
| NCBI Gene ID | 6633 ncbi.nlm.nih.gov/gene/6633 |
| Ensembl ID | ENSG00000125743 |
| UniProt ID | P62316 |
| OMIM ID | 601061 |
| HGNC ID | 11160 |
| Aliases | Sm-D2, SMD2 |
Description
SNRPD2 encodes the Sm-D2 protein, a core component of the U1, U2, U4/U6, and U5 small nuclear ribonucleoprotein (snRNP) complexes. These complexes form the spliceosome, which catalyzes the removal of introns from pre-mRNA. Sm-D2 is essential for spliceosome assembly and pre-mRNA splicing fidelity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered splicing of oncogenes and tumor suppressors due to SNRPD2 dysregulation | COSMIC, literature |
| Developmental disorders | Disruption of splicing essential for embryonic development | OMIM, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 25.6 | High |
| Lymph node | 18.4 | Medium |
| Brain | 12.1 | Medium |
| Liver | 8.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 22.3 | Cervical cancer cell line |
| K562 | 19.7 | Leukemia cell line |
| HEK293 | 15.4 | 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% | Altered start codon |
| c.214G>A | Missense | <0.01% | p.Val72Met, unknown significance |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations are rare and likely deleterious due to essential splicing function.
Gain of Function (GOF)
No known gain-of-function mutations.
Dominant Negative (DN)
Dominant-negative effects have not been reported.
View complete mutation data：
Gene Ontology (GO)
| • mRNA splicing | • via spliceosome |
| • U1 snRNP binding | • U2 snRNP binding |
| • U4/U6 snRNP binding | • U5 snRNP binding |
| • nucleus | • spliceosomal complex |
Pathways
• mRNA Splicing - Major Pathway
• Processing of Capped Intron-Containing Pre-mRNA
Protein Summary
The Sm-D2 protein is a 118-amino acid polypeptide that forms a stable heterodimer with Sm-D1. It contains a conserved Sm domain that mediates RNA binding and protein-protein interactions within the snRNP core. Post-translational modifications include symmetric dimethylation of arginine residues, which is important for nuclear localization and snRNP assembly.
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|---|---|---|---|---|
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