• Gene id: 2879

Gene Summary

• Gene Symbol: GPX4   Gene   UCSC   Ensembl
• Aliases: GPx-4, GSHPx-4, MCSP, PHGPx, SMDS, snGPx, snPHGPx
• Gene name: glutathione peroxidase 4
• Alternate names: phospholipid hydroperoxide glutathione peroxidase, phospholipid hydroperoxidase, phospholipid hydroperoxide glutathione peroxidase, mitochondrial, sperm nucleus glutathione peroxidase,
• Gene location: 19p13.3 (1103925: 1106788)     Exons: 8     NC_000019.10
• Gene summary(Entrez): The protein encoded by this gene belongs to the glutathione peroxidase family, members of which catalyze the reduction of hydrogen peroxide, organic hydroperoxides and lipid hydroperoxides, and thereby protect cells against oxidative damage. Several isozy
• OMIM: 138322

SNPs

rs757230

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.1102132A>G
NC_000019.9   g.1102131A>G
NG_050621.1   g.3207A>G|SEQ=[A/G]|GENE=GPX4

rs757229

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.1102115G>A
NC_000019.10   g.1102115G>C
NC_000019.10   g.1102115G>T
NC_000019.9   g.1102114G>A
NC_000019.9   g.1102114G>C
NC_000019.9   g.1102114G>T
NG_050621.1   g.3190G>A
NG_050621.1   g.3190G>C
NG_050621.1   g.3190G>T|SEQ=[G/A/C/T]|GENE=GPX4

rs4588110

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.1102140A>C
NC_000019.10   g.1102140A>G
NC_000019.10   g.1102140A>T
NC_000019.9   g.1102139A>C
NC_000019.9   g.1102139A>G
NC_000019.9   g.1102139A>T
NG_050621.1   g.3215A>C
NG_050621.1   g.3215A>G
NG_050621.1   g.3215A>T|SEQ=[A/C/G/T]|GENE=GPX4

rs3746165

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.1102212A>G
NC_000019.10   g.1102212A>T
NC_000019.9   g.1102211A>G
NC_000019.9   g.1102211A>T
NG_050621.1   g.3287A>G
NG_050621.1   g.3287A>T|SEQ=[A/G/T]|GENE=GPX4

rs3746166

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.1102176C>T
NC_000019.9   g.1102175C>T
NG_050621.1   g.3251C>T|SEQ=[C/T]|GENE=GPX4

Protein Summary

• Protein general information: P36969  
  • Name: Phospholipid hydroperoxide glutathione peroxidase (PHGPx) (EC 1.11.1.12) (Glutathione peroxidase 4) (GPx 4) (GSHPx 4)
  • Length: 197  
  • Mass: 22,175
• Sequence:

  MSLGRLCRLLKPALLCGALAAPGLAGTMCASRDDWRCARSMHEFSAKDIDGHMVNLDKYRGFVCIVTNVASQUGK
  TEVNYTQLVDLHARYAECGLRILAFPCNQFGKQEPGSNEEIKEFAAGYNVKFDMFSKICVNGDDAHPLWKWMKIQ
  PKGKGILGNAIKWNFTKFLIDKNGCVVKRYGPMEEPLVIEKDLPHYF

• Structural information:
  • Interpro: IPR000889  IPR029759  IPR029760  IPR036249  
  • Prosite: PS00460 PS00763 PS51355
  • CDD: cd00340
  • PDB: 2GS3 2OBI 5H5Q 5H5R 5H5S
  • PDBsum: 2GS3 2OBI 5H5Q 5H5R 5H5S
  • DIP: 53543
  • STRING: ENSP00000346103
• Other Databases: GeneCards:  GPX4  Malacards:  GPX4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004602	glutathione peroxidase activity	TAS	molecular function
GO:0004602	glutathione peroxidase activity	TAS	molecular function
GO:0004602	glutathione peroxidase activity	TAS	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005739	mitochondrion	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006644	phospholipid metabolic process	TAS	biological process
GO:0006979	response to oxidative stress	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0019372	lipoxygenase pathway	TAS	biological process
GO:0047066	phospholipid-hydroperoxide glutathione peroxidase activity	IEA	molecular function
GO:0055114	oxidation-reduction process	TAS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0098869	cellular oxidant detoxification	IEA	biological process
GO:0004601	peroxidase activity	IEA	molecular function
GO:0004602	glutathione peroxidase activity	IEA	molecular function
GO:0004602	glutathione peroxidase activity	TAS	molecular function
GO:0004602	glutathione peroxidase activity	TAS	molecular function
GO:0004602	glutathione peroxidase activity	TAS	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006644	phospholipid metabolic process	TAS	biological process
GO:0006979	response to oxidative stress	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0019372	lipoxygenase pathway	TAS	biological process
GO:0047066	phospholipid-hydroperoxide glutathione peroxidase activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0055114	oxidation-reduction process	TAS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0098869	cellular oxidant detoxification	IEA	biological process
GO:0004602	glutathione peroxidase activity	TAS	molecular function
GO:0004602	glutathione peroxidase activity	TAS	molecular function
GO:0004602	glutathione peroxidase activity	TAS	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005739	mitochondrion	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006644	phospholipid metabolic process	TAS	biological process
GO:0019372	lipoxygenase pathway	TAS	biological process
GO:0055114	oxidation-reduction process	TAS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04216	Ferroptosis

Diseases

Associated diseases	References
Cancer	GAD: 19573080
Cancer (Adenoma)	GAD: 18483336
Cancer (bladder)	GAD: 19692168
Cancer (colorectal)	GAD: 20378690
Cancer (lung)	GAD: 18676680
Cancer (lymphoma)	GAD: 18636124
Cancer (ovarian)	GAD: 20628624
Cancer (prostate)	GAD: 20477822
Cancer (breast)	GAD: 16424062
Atherosclerosis	GAD: 20485444
Hodgkin disease	GAD: 19573080
Asthma	GAD: 19524426
Diabetes	GAD: 12732844
Preeclampsia	INFBASE: 19285650
Female infertility	INFBASE: 19285650
Asthenozoospermia	MIK: 25825237
Oligoasthenozoospermia	MIK: 16872467
Oligoasthenozoospermia	MIK: 16872467
Male factor infertility	MIK: 11159372
Asthenozoospermia	MIK: 23455884
Male factor infertility	MIK: 12606444
Asthenozoospermia	MIK: 21644221
Asthenozoospermia	MIK: 25825237
Chronic obstructive pulmonary disease (COPD)	GAD: 19625176
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Associated with inability of the sperm to regulate the cell volume and in abnormal sperm morphology and immotility	MIK: 12695510
Associated with abnormal spermatogenesis and reduced fertility	MIK: 17540721
Asthenozoospermia	MIK: 25825237
Male infertility	MIK: 11159372
Oligoasthenozoospermia	MIK: 16872467
Oligozoospermia	MIK: 21644221
Plays a diverse and important biological role in spermatogenesis	MIK: 12724282
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25825237	Asthenozoospermia				Male infertility	Tubulin beta 2B; glutathione S-transferase Mu 3; keratin type II cytoskeletal 1; outer dense fiber protein 2; voltage-dependent anion-selective channel protein 2; A-kinase anchor protein 4; cytochrome c oxidase subunit 6B; sperm protein associated with t
23455884	Idiopathic asthenozoospermia				Male infertility	GRP78 lactoferrin SPANXB PGK2 flagellin DJ-1 XPA binding protein 2 CAB2 GPX4 and GAPDH
15474074	Male infertility			109 (54 infertile men undergoing assisted reproduction techniques, 55 fertile sperm donors)	Male infertility	GPX-4 GSH
21644221	Oligozoospermia, asthenozoospermia, male infertility	GPx4 (rs757229-rs757230-rs4588110- rs3746165-rs3746166: C-G-G-T-A)			Male infertility	GPx4
16872467	Oligoasthenozoospermia			103 (45 infertile males, 58 fertile volunteers)	Male infertility	PHGPx
12606444	Male infertility			73 (21 control men, 10 were common to fertile controls, 42 infertile patients)	Male infertility	gpx-4
11159372	Male infertility			58 (31 fertile volunteers, 27 infertile males with oligoasthenozoospermia)	Male infertility	PHGPx
17540721	Associated with abnormal spermatogenesis and reduced fertility				Male infertility
16181973	Speramtogenesis				Male infertility
12724282	Plays a diverse and important biological role in spermatogenesis				Male infertility
12695510	Assocaited with inability of the sperm to regulate the cell volume and in abnormal sperm morphology and immotility				Male infertility
25922076	Male infertility				Male infertility
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
19417079	Male infertility				Male infertility