SCNM1
Sodium Channel Modifier 1
Gene Information Card
| Symbol | SCNM1 |
|---|---|
| Full Name | Sodium Channel Modifier 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q21.2 |
| NCBI Gene ID | 79007 ncbi.nlm.nih.gov/gene/79007 |
| Ensembl ID | ENSG00000143178 |
| UniProt ID | Q8N2Z9 |
| OMIM ID | 614235 |
| HGNC ID | 23136 |
| Aliases | C1orf30, MGC13170 |
Description
SCNM1 (Sodium Channel Modifier 1) is a protein-coding gene involved in RNA splicing, specifically in the regulation of alternative splicing of pre-mRNA. It encodes a zinc finger protein that interacts with spliceosomal components. The gene is ubiquitously expressed and has been implicated in neurological disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epileptic encephalopathy, early infantile, 50 | Loss-of-function mutations in SCNM1 disrupt RNA splicing of sodium channel genes, leading to neuronal hyperexcitability. | ClinVar, OMIM |
| Autism spectrum disorder | Rare variants in SCNM1 may alter splicing of synaptic genes, contributing to neurodevelopmental phenotypes. | ClinVar |
| Breast cancer | SCNM1 overexpression correlates with altered splicing of oncogenes, promoting tumor progression. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 6.1 | Low |
| Testis | 15.2 | Medium |
| Lung | 7.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.4 | Moderate expression |
| SH-SY5Y | 14.1 | Higher expression in neuronal cells |
| MCF7 | 9.2 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.325C>T (p.Arg109Trp) | Missense | 0.001% | Loss of splicing regulatory function |
| c.487G>A (p.Gly163Arg) | Missense | 0.0005% | Reduced protein stability |
| c.1A>G (p.Met1?) | Start loss | Rare | Complete loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations impair SCNM1's ability to regulate alternative splicing, leading to neuronal dysfunction.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • RNA splicing | • mRNA processing |
| • zinc ion binding | • nucleus |
| • spliceosomal complex |
Pathways
• mRNA Splicing - Major Pathway
• Alternative Splicing Regulation
Protein Summary
SCNM1 encodes a 244-amino acid protein containing a C2H2-type zinc finger domain. It localizes to the nucleus and interacts with U2 snRNP components to modulate splice site selection. The protein is highly conserved in vertebrates and plays a critical role in neuronal splicing programs.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SCNM1 Knockout HEK293 Cell Line | EDJ-KQ16452 | Human | 79005 | Details Get a Quote |
| SCNM1 Knockout A-549 Cell Line | EDJ-KQ47983 | Human | 79005 | Details Get a Quote |
| SCNM1 Knockout HCT 116 Cell Line | EDJ-KQ47984 | Human | 79005 | Details Get a Quote |
| SCNM1 Knockout HeLa Cell Line | EDJ-KQ47985 | Human | 79005 | Details Get a Quote |
| TNFAIP8L2-SCNM1 Knockout HEK293 Cell Line | EDJ-KQ52510 | Human | 100534012 | Details Get a Quote |
| TNFAIP8L2-SCNM1 Knockout HeLa Cell Line | EDJ-KQ60975 | Human | 100534012 | Details Get a Quote |
| TNFAIP8L2-SCNM1 Knockout A-549 Cell Line | EDJ-KQ69450 | Human | 100534012 | Details Get a Quote |
| TNFAIP8L2-SCNM1 Knockout HCT 116 Cell Line | EDJ-KQ77801 | Human | 100534012 | Details Get a Quote |
