SELENOH

Chr 11

selenoprotein H

Also known as: C11orf31, C17orf10, SELH

This gene encodes a nucleolar protein, which belongs to the SelWTH family. It functions as an oxidoreductase, and has been shown to protect neurons against UVB-induced damage by inhibiting apoptotic cell death pathways, promote mitochondrial biogenesis and mitochondrial function, and suppress cellular senescence through genome maintenance and redox regulation. This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec) at its active site. 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. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2016]

ResearchGenerating clinical summary…
0
Active trials
8
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.86
LOEUF
—
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.86LOEUF
pLI 0.001
Z-score -0.14
OE 1.08 (0.51–1.86)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.93Z-score
OE missense 1.34 (1.12–1.62)
78 obs / 58.0 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.08 (0.51–1.86)
0≤0.351.4
Missense OE?1.34 (1.12–1.62)
0≤0.61.4
Synonymous OE?1.16
0≤1.21.6
LoF obs/exp: 4 / 3.7Missense obs/exp: 78 / 58.0Syn Z: -0.62

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

SELENOH · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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