SNAPC3
Small Nuclear RNA Activating Complex Polypeptide 3
Gene Information Card
| Symbol | SNAPC3 |
|---|---|
| Full Name | Small Nuclear RNA Activating Complex Polypeptide 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 9p22.3 |
| NCBI Gene ID | 6619 ncbi.nlm.nih.gov/gene/6619 |
| Ensembl ID | ENSG00000164932 |
| UniProt ID | Q92973 |
| OMIM ID | 602777 |
| HGNC ID | 11135 |
| Aliases | PTFgamma, SNAP50 |
Description
SNAPC3 encodes a 50 kDa subunit of the small nuclear RNA (snRNA) activating protein complex (SNAPc). This complex is essential for the transcription of snRNA genes by RNA polymerase II and III. SNAPC3 directly binds to the proximal sequence element (PSE) of snRNA promoters and recruits the transcription machinery. The protein contains a zinc finger domain and is critical for snRNA expression, which in turn is required for pre-mRNA splicing.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | N/A | N/A |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lymph node | 12.1 | Medium |
| Brain | 8.5 | Low |
| Liver | 6.3 | Low |
| Heart | 5.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | 10.5 | Leukemia cell line |
| HeLa | 9.8 | Cervical carcinoma |
| HEK293 | 8.2 | Embryonic kidney |
| HepG2 | 7.1 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of start codon |
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding | • transcription factor activity |
| • snRNA transcription | • nucleus |
| • zinc ion binding |
Pathways
• snRNA transcription by RNA polymerase II
• snRNA transcription by RNA polymerase III
Protein Summary
SNAPC3 is a 50 kDa subunit of the SNAP complex, which binds the proximal sequence element of snRNA promoters. It contains a zinc finger domain and is essential for recruiting RNA polymerase II and III to snRNA genes. The protein is ubiquitously expressed with higher levels in testis and lymphoid tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| No Data | ||||
