SNAPC4
Small Nuclear RNA Activating Complex Polypeptide 4
Gene Information Card
| Symbol | SNAPC4 |
|---|---|
| Full Name | Small Nuclear RNA Activating Complex Polypeptide 4 |
| Gene Type | Protein-coding |
| Chromosomal Location | 9q34.3 |
| NCBI Gene ID | 6621 ncbi.nlm.nih.gov/gene/6621 |
| Ensembl ID | ENSG00000107104 |
| UniProt ID | Q5SXM2 |
| OMIM ID | 602777 |
| HGNC ID | 11137 |
| Aliases | SNAP190, PTFgamma, SNAPc 190 kDa subunit |
Description
SNAPC4 encodes the 190 kDa subunit of the small nuclear RNA (snRNA) activating protein complex (SNAPc), which is essential for transcription of snRNA genes by RNA polymerase II and III. The SNAPc complex binds to the proximal sequence element (PSE) of snRNA gene promoters. SNAPC4 is required for snRNA gene expression and plays a role in RNA processing and spliceosome assembly.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 6.1 | Low |
| Liver | 5.4 | Low |
| Heart | 4.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.2 | Embryonic kidney |
| HeLa | 8.7 | Cervical carcinoma |
| K562 | 7.3 | Leukemia |
| HepG2 | 6.8 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | 0.001% | Unknown functional impact |
| c.567delA | Frameshift | 0.0005% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations may lead to truncated protein and loss of SNAPc activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005669 (GO:0005669) | • GO:0006367 (GO:0006367) |
| • GO:0042795 (GO:0042795) | • GO:0005634 (GO:0005634) |
Pathways
• snRNA transcription by RNA polymerase II
• snRNA transcription by RNA polymerase III
Protein Summary
SNAPC4 is a 190 kDa subunit of the snRNA-activating protein complex. It contains a Myb-like DNA-binding domain and is involved in recognizing the proximal sequence element of snRNA promoters. The protein localizes to the nucleus and is essential for transcription of U1, U2, U4, and U5 snRNA genes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| No Data | ||||
