SNAPC5
Small Nuclear RNA Activating Complex Polypeptide 5
Gene Information Card
| Symbol | SNAPC5 |
|---|---|
| Full Name | Small Nuclear RNA Activating Complex Polypeptide 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q22.31 |
| NCBI Gene ID | 10302 ncbi.nlm.nih.gov/gene/10302 |
| Ensembl ID | ENSG00000137807 |
| UniProt ID | O75971 |
| OMIM ID | 605979 |
| HGNC ID | 11137 |
| Aliases | SNAP19, SNAPc-19kDa, SNAPc subunit 5 |
Description
SNAPC5 encodes a 19 kDa subunit of the small nuclear RNA (snRNA) activating protein complex (SNAPc). SNAPc is required for transcription of RNA polymerase II and III snRNA genes, including U1, U2, U4, U5, and U6. The SNAPC5 subunit is essential for complex assembly and promoter recognition.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Thyroid | 8.7 | Low |
| Lymph node | 7.1 | Low |
| Brain | 6.5 | Low |
| Liver | 5.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.2 | Embryonic kidney |
| HeLa | 9.8 | Cervical carcinoma |
| K562 | 8.5 | Leukemia |
| HepG2 | 7.3 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported in COSMIC or ClinVar | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No documented loss-of-function mutations in human disease.
Gain of Function (GOF)
No documented gain-of-function mutations.
Dominant Negative (DN)
No documented dominant-negative mutations.
View complete mutation data：
Gene Ontology (GO)
| • snRNA activating complex | • transcription factor complex |
| • RNA polymerase II transcription | • RNA polymerase III transcription |
| • nucleus |
Pathways
• snRNA transcription by RNA polymerase II
• snRNA transcription by RNA polymerase III
Protein Summary
SNAPC5 is a 19 kDa component of the SNAPc complex. It directly contacts DNA and stabilizes the complex on snRNA gene promoters. The protein contains a conserved SNAPc domain and is ubiquitously expressed at low levels.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SNAPC5 Knockout HEK293 Cell Line | EDJ-KQ50954 | Human | 10302 | Details Get a Quote |
| SNAPC5 Knockout HeLa Cell Line | EDJ-KQ55371 | Human | 10302 | Details Get a Quote |
| SNAPC5 Knockout A-549 Cell Line | EDJ-KQ63853 | Human | 10302 | Details Get a Quote |
| SNAPC5 Knockout HCT 116 Cell Line | EDJ-KQ72311 | Human | 10302 | Details Get a Quote |
