GPX8

protein-coding

glutathione peroxidase 8 (putative)

Gene summary

Enables peroxidase activity. Predicted to be involved in cellular response to oxidative stress. Predicted to be located in endoplasmic reticulum lumen. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_001008397.4

Inheritance

—

ClinVar variants

U:28B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.41

Max pathogenic AF

—

Genomic locus

chr5:55,160,167-55,167,297

External References & Databases

Ensembl (ENSG00000164294)

Transcript & Mutation Effects

hg38 • Region Span ~7.1 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to GPX8 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 30

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001008397.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous					1 clinvar	1
missense			28 clinvar	2 clinvar		30
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	28	2	1	31

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 17 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001008397.4	RefSeq	NP_001008398.2	3	MANE Select
ENST00000503787.6	Ensembl	ENSP00000423822.1	3	MANE Select
NM_001306197.2	RefSeq	NP_001293126.1	3	Standard
NM_001306198.2	RefSeq	NP_001293127.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Thyroid hormone synthesis - Homo sapiens (human)
Glutathione metabolism - Homo sapiens (human)
Arachidonic acid metabolism - Homo sapiens (human)
Detoxification of Reactive Oxygen Species
glutathione redox reactions I

Biological Process

cellular response to oxidative stress
oxidation-reduction process
cellular oxidant detoxification

Molecular Function

peroxidase activity
glutathione peroxidase activity

Cellular Component

endoplasmic reticulum lumen
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000503787
Coding exons: 3
Length: 6954
Individuals with no LoFs: 125710
Homozygous LoFs: 0
Heterozygous LoFs: 32
Defined: 125742
p: 0.000127

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.615	84	101	0.828	0.00000432	1350
Missense (PolyPhen)		28	35.789	0.78237		499
Synonymous	0.252	37	39.0	0.949	0.00000169	410
Loss of Function	1.47	3	7.30	0.411	3.03e-7	107

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000029	0.000029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00016	0.00016	rare
Finnish	0.00014	0.00014	rare
European (Non-Finnish)	0.00015	0.00015	rare
South Asian	0.00023	0.00023	rare
Other	0.00018	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.105

Intolerance Scores

LoFtool: 0.792
RVIS EVS: -0.01
RVIS percentile EVS: 53.19

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.225

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Low	Low
Primary Immunodeficiency	Medium	Low	Medium
Cancer	Medium	Low	Medium