SELENOO

Chr 22

selenoprotein O

Also known as: SELO

NCBI Gene: 83642ENSG00000073169UniProt: Q9BVL4

This gene encodes a selenoprotein that is localized to the mitochondria. It is the largest mammalian selenoprotein, containing the rare amino acid selenocysteine (Sec). Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. The exact function of this selenoprotein is not known, but it is thought to have redox activity. [provided by RefSeq, Dec 2016]

376
ClinVar variants
140
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— SELENOO
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
140 Pathogenic / Likely Pathogenic· 205 VUS of 376 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.69LOEUF
pLI 0.000
Z-score -0.88
OE 1.21 (0.88–1.69)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
-1.40Z-score
OE missense 1.21 (1.11–1.31)
436 obs / 361.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.1.21 (0.88–1.69)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.21 (1.11–1.31)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.35
0≤1.21.6
LoF obs/exp: 24 / 19.8Missense obs/exp: 436 / 361.3Syn Z: -3.60

ClinVar Variant Classifications

376 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic139
Likely Pathogenic1
VUS205
Likely Benign9
Benign3
Conflicting1
139
Pathogenic
1
Likely Pathogenic
205
VUS
9
Likely Benign
3
Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
139
0
139
Likely Pathogenic
0
0
1
0
1
VUS
0
189
16
0
205
Likely Benign
0
7
0
2
9
Benign
0
0
2
1
3
Conflicting
—1
Total01961583358

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

SELENOO · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
SELENOPROTEIN O; SELENOO
MIM #607917 · *
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Selenoprotein O Promotes Melanoma Metastasis and Regulates Mitochondrial Complex II Activity.
Nascentes Melo LM et al.·Cancer Res
2025
Selenoprotein Gene Nomenclature.
Gladyshev VN et al.·J Biol Chem
2016
Comprehensive Analysis of Expression and Prognostic Value of Selenoprotein Genes in Thyroid Cancer.
Zhao Y et al.·Genet Test Mol Biomarkers
2022
[Expression Levels and Regulation of Selenoprotein Genes in Patients With Coronavirus Disease 2019].
Li J et al.·Zhongguo Yi Xue Ke Xue Yuan Xue Bao
2024Cohort
Protein AMPylation by an Evolutionarily Conserved Pseudokinase.
Sreelatha A et al.·Cell
2018
Identification of selenoprotein O substrates using a biotinylated ATP analog.
Mukherjee M et al.·Methods Enzymol
2022
Interplay between Selenium, Selenoproteins and HIV-1 Replication in Human CD4 T-Lymphocytes.
Guillin OM et al.·Int J Mol Sci
2022
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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External Resources

Links to major genomics databases and tools