SELENOM: Selenoprotein M Gene
A thioredoxin-like selenoprotein involved in redox homeostasis and calcium regulation
Gene Information Card
| Symbol | SELENOM |
|---|---|
| Full Name | Selenoprotein M |
| Gene Type | protein-coding |
| Chromosomal Location | 22q12.2 |
| NCBI Gene ID | 140606 ncbi.nlm.nih.gov/gene/140606 |
| Ensembl ID | ENSG00000100288 |
| UniProt ID | Q8WWX9 |
| OMIM ID | 607915 |
| HGNC ID | 30372 |
| Aliases | SELM, SEPM |
Description
SELENOM (selenoprotein M) is a protein-coding gene located on chromosome 22q12.2. It encodes a selenoprotein containing a selenocysteine (Sec) residue at the active site, which is essential for its thioredoxin-like oxidoreductase activity. SELENOM is predominantly localized to the endoplasmic reticulum (ER) and is involved in redox homeostasis, calcium regulation, and protection against oxidative stress. It is expressed in various tissues, with highest levels in the brain, thyroid, and adipose tissue.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alzheimer's disease | Oxidative stress and ER calcium dysregulation; SELENOM may modulate amyloid-beta toxicity | PMID: 25664885 |
| Type 2 diabetes | SELENOM expression altered in adipose tissue; linked to insulin resistance and inflammation | PMID: 23395179 |
| Cancer (breast, colorectal) | Dysregulated expression; potential role in redox balance and tumor progression | COSMIC database |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Thyroid | 9.8 | Medium |
| Adipose tissue | 8.5 | Medium |
| Liver | 4.2 | Low |
| Heart | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.5 | High expression in kidney-derived cells |
| SH-SY5Y | 8.9 | Neuroblastoma cell line; relevant for neurological studies |
| MCF7 | 6.2 | Breast cancer cell line; moderate expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337G>A (p.Gly113Arg) | Missense | <0.01% | Alters selenocysteine incorporation; reduced activity |
| c.424T>C (p.Ser142Pro) | Missense | <0.01% | Potential structural change; functional impact unknown |
Mutation functional classification
Loss of Function (LOF)
Missense mutations affecting selenocysteine insertion or catalytic site reduce oxidoreductase activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data:
Gene Ontology (GO)
Pathways
• hsa04218 - Cellular senescence
• hsa04141 - Endoplasmic reticulum protein processing
• hsa04020 - Calcium signaling pathway
Protein Summary
Selenoprotein M (SELENOM) is a 145-amino acid protein (16 kDa) with a thioredoxin-like fold and a conserved selenocysteine residue at position 48 (UniProt Q8WWX9). It is localized to the endoplasmic reticulum and functions as an oxidoreductase, reducing oxidized proteins and modulating calcium homeostasis. SELENOM is implicated in protection against oxidative stress and may play roles in neurodegenerative diseases, metabolic disorders, and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SELENOM Knockout HEK293 Cell Line | EDJ-KQ2964 | Human | 140606 | Details Get a Quote |
| SELENOM Knockout A-549 Cell Line | EDJ-KQ24117 | Human | 140606 | Details Get a Quote |
| SELENOM Knockout HCT 116 Cell Line | EDJ-KQ24118 | Human | 140606 | Details Get a Quote |
| SELENOM Knockout HeLa Cell Line | EDJ-KQ24119 | Human | 140606 | Details Get a Quote |
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