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.

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 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
Displaying Records 1 To 4 Of 4 Records
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