GPX5

Chr 6

glutathione peroxidase 5

Also known as: EGLP, GPx-5, GSHPx-5, HEL-S-75p

NCBI Gene: 2880ENSG00000224586UniProt: O75715

This gene belongs to the glutathione peroxidase family. It is specifically expressed in the epididymis in the mammalian male reproductive tract, and is androgen-regulated. Unlike several other characterized glutathione peroxidases, this enzyme is not a selenoprotein, lacking the selenocysteine residue. Thus, it is selenium-independent, and has been proposed to play a role in protecting the membranes of spermatozoa from the damaging effects of lipid peroxidation and/or preventing premature acrosome reaction. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2016]

ResearchGenerating clinical summary…
1
Active trials
16
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.34
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.34LOEUF
pLI 0.001
Z-score 0.88
OE 0.68 (0.37–1.34)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.24Z-score
OE missense 0.94 (0.80–1.10)
109 obs / 116.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.68 (0.37–1.34)
0≤0.351.4
Missense OE?0.94 (0.80–1.10)
0≤0.61.4
Synonymous OE?1.04
0≤1.21.6
LoF obs/exp: 6 / 8.8Missense obs/exp: 109 / 116.4Syn Z: -0.21

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

GPX5 · protein map & ClinVar variants

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

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients