SNAPC2
Small Nuclear RNA Activating Complex Subunit 2
Gene Information Card
| Symbol | SNAPC2 |
|---|---|
| Full Name | Small Nuclear RNA Activating Complex Subunit 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 6618 ncbi.nlm.nih.gov/gene/6618 |
| Ensembl ID | ENSG00000104879 |
| UniProt ID | Q9H0U4 |
| OMIM ID | 602327 |
| HGNC ID | 11136 |
| Aliases | PTFgamma, SNAP45, snRNA-activating protein complex subunit 2 |
Description
SNAPC2 encodes a subunit of the snRNA-activating protein complex (SNAPc), which is required for transcription of both RNA polymerase II and III small nuclear RNA genes. The encoded protein directly binds to the PSE (proximal sequence element) and recruits other SNAPc subunits and TATA-binding protein (TBP) to initiate transcription. SNAPC2 is essential for snRNA expression and thus for pre-mRNA splicing.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in OMIM or ClinVar | Not applicable | No curated disease entries |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Thyroid | 10.1 | Medium |
| Adrenal gland | 8.5 | Low |
| Brain | 6.3 | Low |
| Liver | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.4 | Moderate expression |
| HeLa | 10.8 | Moderate expression |
| K562 | 9.2 | Low expression |
| HepG2 | 7.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% (gnomAD) | Likely loss of start codon; functional impact unknown |
| c.100C>T (p.Arg34Trp) | Missense | <0.01% (gnomAD) | Uncertain significance; no disease association |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
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)
Pathways
• snRNA transcription (Reactome: R-HSA-6810522)
• RNA polymerase II transcription initiation (Reactome: R-HSA-75955)
Protein Summary
SNAPC2 (SNAP45) is a 45 kDa subunit of the snRNA-activating protein complex. It contains a histone-fold domain that mediates DNA binding and interaction with other SNAPc subunits. The protein is ubiquitously expressed and localizes to the nucleus. It is essential for the transcription of U1, U2, U4, U5, and U6 snRNA genes.
Related Services
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| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| No Data | ||||
