GPX4 (glutathione peroxidase 4)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2879
Gene name Gene Name - the full gene name approved by the HGNC.
Glutathione peroxidase 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GPX4
Synonyms (NCBI Gene) Gene synonyms aliases
GPx-4, GSHPx-4, MCSP, PHGPx, SMDS, snGPx, snPHGPx
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(65)
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 assay, Western blotting, qRT-PCR, In situ hybridization 33116120
MIRT755504 hsa-miR-324-3p Luciferase reporter assay, Western blotting, qRT-PCR, Immunoprecipitaion (IP), Flow cytometry 38947389
MIRT755995 hsa-miR?15a Luciferase reporter assay, Western blotting, qRT-PCR, RNA pull down assay 35069876
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
Transcription factor Regulation Reference
CREM Unknown 15225122
TFAP2A Unknown 10428483
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(47)
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
138322 4556 ENSG00000167468
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Spondylometaphyseal Dysplasia spondylometaphyseal dysplasia, sedaghatian type rs1555716575, rs1599810980, rs769967246 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Carcinoma Basal cell carcinoma N/A N/A GWAS
Nasal polyposis Nasal polyps N/A N/A GWAS
Show/Hide Text Mining Associations (133)
Associations from Text Mining Disease 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