GPX4 (glutathione peroxidase 4)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 2879
Gene name Glutathione peroxidase 4
Gene symbol GPX4
Synonyms (NCBI Gene)
GPx-4GSHPx-4MCSPPHGPxSMDSsnGPxsnPHGPx
Chromosome 19
Chromosome location 19p13.3
Summary 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
SNPs SNP information provided by dbSNP.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (4)
SNP ID Visualize variation Clinical significance Consequence
rs769967246 C>A,T Pathogenic Coding sequence variant, synonymous variant, stop gained
rs775146234 G>A Pathogenic Intron variant
rs1599808202 GCACATGG>- Likely-pathogenic Frameshift variant, coding sequence variant
rs1599810980 TTTTC>- Pathogenic Intron variant
miRNA miRNA information provided by mirtarbase database.
65
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT029349 hsa-miR-26b-5p Microarray 19088304
MIRT046107 hsa-miR-124-3p CLASH 23622248
MIRT735670 hsa-miR-182-5p Luciferase reporter assayWestern blottingqRT-PCRIn situ hybridization 33116120
MIRT755504 hsa-miR-324-3p Luciferase reporter assayWestern blottingqRT-PCRImmunoprecipitaion (IP)Flow cytometry 38947389
MIRT755995 hsa-miR?15a Luciferase reporter assayWestern blottingqRT-PCRRNA pull down assay 35069876
Transcription factors Transcription factors information provided by TRRUST V2 database.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
CREM Unknown 15225122
TFAP2A Unknown 10428483
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0004601 Function Peroxidase activity IEA
GO:0004602 Function Glutathione peroxidase activity IBA
GO:0004602 Function Glutathione peroxidase activity IDA 36608588
GO:0004602 Function Glutathione peroxidase activity IEA
GO:0004602 Function Glutathione peroxidase activity IMP 17630701
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
138322 4556 ENSG00000167468
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P36969
Protein name Phospholipid hydroperoxide glutathione peroxidase GPX4 (PHGPx) (EC 1.11.1.12) (Glutathione peroxidase 4) (GPx-4) (GSHPx-4) (EC 1.11.1.9)
Protein function Essential antioxidant peroxidase that directly reduces phospholipid hydroperoxide even if they are incorporated in membranes and lipoproteins (By similarity). Can also reduce cholesterol hydroperoxide and thymine hydroperoxide (By similarity). P
PDB 2GS3 , 2OBI , 5H5Q , 5H5R , 5H5S , 6ELW , 6HKQ , 6HN3 , 7L8K , 7L8L , 7L8M , 7L8Q , 7L8R , 7U4I , 7U4J , 7U4K , 7U4L , 7U4M , 7U4N , 8Q8J , 8Q8N
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00255 GSHPx 41 → 148 Glutathione peroxidase Family
Tissue specificity TISSUE SPECIFICITY: Present primarily in testis. Expressed in platelets (at protein level) (PubMed:11115402). {ECO:0000269|PubMed:11115402, ECO:0000269|PubMed:9705830}.
Sequence 
MSLGRLCRLLKPALLCGALAAPGLAGTMCASRDDWRCARSMHEFSAKDIDGHMVNLDKYR
GFVCIVTNVASQUGKTEVNYTQLVDLHARYAECGLRILAFPCNQFGKQEPGSNEEIKEFA
AGYNVKFDMFSKICVNGDDAHPLWKWMKIQPKGKGILGNAIKWNFTKFLIDKNGCVVKRY
GPMEEPLVIEKDLPHYF
Sequence length 197
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Glutathione metabolism
Arachidonic acid metabolism
Metabolic pathways
Ferroptosis 		  Synthesis of 12-eicosatetraenoic acid derivatives
Synthesis of 15-eicosatetraenoic acid derivatives
Biosynthesis of D-series resolvins
Biosynthesis of E-series 18(S)-resolvins
Biosynthesis of aspirin-triggered D-series resolvins
Biosynthesis of E-series 18(R)-resolvins
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
GPX4-related disorder Likely pathogenic rs763745871 RCV003407815
Spondylometaphyseal dysplasia, Sedaghatian type Likely pathogenic; Pathogenic rs763745871, rs772394824, rs1599810980, rs769967246, rs2512693319, rs1555716575 RCV001806422
RCV003152779
RCV000128832
RCV000128833
RCV003154311
RCV001844185
Show/Hide Unknown Diseases (3)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Gastric cancer Benign rs199948868 RCV005928170
Ovarian serous cystadenocarcinoma Benign rs199948868 RCV005928171
Sarcoma Benign rs199948868 RCV005928169
Show/Hide Text Mining Associations (133)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abortion Habitual Associate 27929073
Acute Disease Associate 36193742
Acute Lung Injury Associate 35910848, 36913799
Adenocarcinoma Associate 36035281
Adenocarcinoma of Lung Associate 33846793, 35866781, 37248295
Adrenal Gland Neoplasms Associate 32184394
AIDS Related Complex Associate 39796164
Alzheimer Disease Associate 35449212
Arthritis Rheumatoid Associate 35003389
Biliary Tract Neoplasms Associate 31590928