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Aliases for GPX4 Gene

Aliases for GPX4 Gene

  • Glutathione Peroxidase 4 2 3 4 5
  • Phospholipid Hydroperoxidase 2 3
  • EC 4 56
  • GSHPx-4 3 4
  • GPx-4 3 4
  • PHGPx 3 4
  • Phospholipid Hydroperoxide Glutathione Peroxidase, Mitochondrial 3
  • Glutathione Peroxidase 4 (Phospholipid Hydroperoxidase) 2
  • Phospholipid Hydroperoxide Glutathione Peroxidase 3
  • Sperm Nucleus Glutathione Peroxidase 3
  • EC 1.11.1 56
  • SnPHGPx 3
  • SnGPx 3
  • MCSP 3
  • SMDS 3

External Ids for GPX4 Gene

Previous GeneCards Identifiers for GPX4 Gene

  • GC19P001181
  • GC19P001043
  • GC19P001054
  • GC19P000878

Summaries for GPX4 Gene

Entrez Gene Summary for GPX4 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 isozymes of this gene family exist in vertebrates, which vary in cellular location and substrate specificity. This isozyme has a high preference for lipid hydroperoxides and protects cells against membrane lipid peroxidation and cell death. It is also required for normal sperm development; thus, it has been identified as a 'moonlighting' protein because of its ability to serve dual functions as a peroxidase, as well as a structural protein in mature spermatozoa. Mutations in this gene are associated with Sedaghatian type of spondylometaphyseal dysplasia (SMDS). This isozyme is also a selenoprotein, containing the rare amino acid selenocysteine (Sec) at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2016]

GeneCards Summary for GPX4 Gene

GPX4 (Glutathione Peroxidase 4) is a Protein Coding gene. Diseases associated with GPX4 include Spondylometaphyseal Dysplasia, Sedaghatian Type and Neurotic Disorder. Among its related pathways are Metabolism and Arachidonic acid metabolism. Gene Ontology (GO) annotations related to this gene include glutathione peroxidase activity and glutathione binding. An important paralog of this gene is GPX1.

UniProtKB/Swiss-Prot for GPX4 Gene

  • Protects cells against membrane lipid peroxidation and cell death. Required for normal sperm development and male fertility. Could play a major role in protecting mammals from the toxicity of ingested lipid hydroperoxides. Essential for embryonic development. Protects from radiation and oxidative damage. Essential for maturation and survival of photoreceptor cells. Plays a role in a primary T cell response to viral and parasitic infection by protecting T cells from ferroptosis, a cell death resulting from an iron-dependent accumulation of lipid reactive oxygen species, and by supporting T cell expansion.

Gene Wiki entry for GPX4 Gene

Additional gene information for GPX4 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GPX4 Gene

Genomics for GPX4 Gene

GeneHancer (GH) Regulatory Elements for GPX4 Gene

Promoters and enhancers for GPX4 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19I001097 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 571.8 +2.1 2140 17 MLX DMAP1 IRF4 YY1 ZNF143 SP3 NFYC SSRP1 GLIS1 RCOR2 GPX4 GC19P001105 GC19P001106 CIRBP TMEM259 ENSG00000267283 LOC100288123 ENSG00000261526 MED16 TCF3
GH19I001093 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 13 -9.1 -9099 2.9 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 YY1 POLR2B ZNF207 ZNF143 POLR2E GPX4 ARHGAP45 PIR52456
GH19I001164 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 6.4 +65.7 65730 10.5 HDGF PKNOX1 CLOCK FOXA2 ARNT ARID4B NEUROD1 SIN3A ZNF2 YY1 SBNO2 LOC102725180 DAZAP1 LOC100288123 TMEM259 PTBP1 TCF3 MIER2 CIRBP MED16
GH19I001406 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 3.2 +308.9 308904 13.5 MLX FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC MEF2D DAZAP1 TCF3 SF3A2 TMEM259 PTBP1 LOC100288123 GRIN3B RPS15 ENSG00000267317 CIRBP
GH19I001086 Enhancer 1.1 Ensembl ENCODE dbSUPER 7 -16.2 -16194 3.3 CTCF BACH1 MAX EBF1 ZIC2 KLF5 ZNF48 POLR2A SCRT2 NFATC1 PIR52456 POLR2E ABCA7 ARHGAP45 GPX4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GPX4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GPX4 gene promoter:

Genomic Locations for GPX4 Gene

Genomic Locations for GPX4 Gene
2,866 bases
Plus strand

Genomic View for GPX4 Gene

Genes around GPX4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GPX4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GPX4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GPX4 Gene

Proteins for GPX4 Gene

  • Protein details for GPX4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Phospholipid hydroperoxide glutathione peroxidase, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • O43381
    • Q6PJ59
    • Q9UPK2

    Protein attributes for GPX4 Gene

    197 amino acids
    Molecular mass:
    22175 Da
    Quaternary structure:
    • Monomer. Has a tendency to form higher mass oligomers.

    Three dimensional structures from OCA and Proteopedia for GPX4 Gene

    Alternative splice isoforms for GPX4 Gene


neXtProt entry for GPX4 Gene

Selected DME Specific Peptides for GPX4 Gene


Post-translational modifications for GPX4 Gene

  • Ubiquitination at posLast=162162 and posLast=167167

Domains & Families for GPX4 Gene

Gene Families for GPX4 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for GPX4 Gene

Suggested Antigen Peptide Sequences for GPX4 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the glutathione peroxidase family.
  • Belongs to the glutathione peroxidase family.
genes like me logo Genes that share domains with GPX4: view

Function for GPX4 Gene

Molecular function for GPX4 Gene

GENATLAS Biochemistry:
glutathione peroxidase 4,expressed in testis,catabolic pathway of activated oxygen species,free radical detoxification
UniProtKB/Swiss-Prot CatalyticActivity:
2 glutathione + a hydroperoxy-fatty-acyl-[lipid] = glutathione disulfide + a hydroxy-fatty-acyl-[lipid] + H(2)O.
UniProtKB/Swiss-Prot Function:
Protects cells against membrane lipid peroxidation and cell death. Required for normal sperm development and male fertility. Could play a major role in protecting mammals from the toxicity of ingested lipid hydroperoxides. Essential for embryonic development. Protects from radiation and oxidative damage. Essential for maturation and survival of photoreceptor cells. Plays a role in a primary T cell response to viral and parasitic infection by protecting T cells from ferroptosis, a cell death resulting from an iron-dependent accumulation of lipid reactive oxygen species, and by supporting T cell expansion.

Enzyme Numbers (IUBMB) for GPX4 Gene

Phenotypes From GWAS Catalog for GPX4 Gene

Gene Ontology (GO) - Molecular Function for GPX4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004602 glutathione peroxidase activity IEA,TAS 9705830
GO:0005515 protein binding IPI 23355646
GO:0016491 oxidoreductase activity IEA --
GO:0042802 identical protein binding IMP 17630701
GO:0047066 phospholipid-hydroperoxide glutathione peroxidase activity IEA --
genes like me logo Genes that share ontologies with GPX4: view
genes like me logo Genes that share phenotypes with GPX4: view

Human Phenotype Ontology for GPX4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GPX4 Gene

MGI Knock Outs for GPX4:

Animal Model Products

miRNA for GPX4 Gene

miRTarBase miRNAs that target GPX4

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for GPX4 Gene

Localization for GPX4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GPX4 Gene

Isoform Mitochondrial: Mitochondrion.
Isoform Cytoplasmic: Cytoplasm.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GPX4 gene
Compartment Confidence
extracellular 5
mitochondrion 5
nucleus 5
cytosol 5
plasma membrane 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GPX4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus HDA,IDA 21630459
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion TAS,IDA 9705830
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with GPX4: view

Pathways & Interactions for GPX4 Gene

genes like me logo Genes that share pathways with GPX4: view

Gene Ontology (GO) - Biological Process for GPX4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006644 phospholipid metabolic process TAS 8039723
GO:0006979 response to oxidative stress IEA --
GO:0007275 multicellular organism development IEA --
GO:0019372 lipoxygenase pathway TAS --
GO:0051258 protein polymerization IMP 17630701
genes like me logo Genes that share ontologies with GPX4: view

No data available for SIGNOR curated interactions for GPX4 Gene

Drugs & Compounds for GPX4 Gene

(20) Drugs for GPX4 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glutathione Approved, Investigational Nutra Target, cofactor 0
Selenium Approved, Investigational, Vet_approved Pharma 193
Hydrogen peroxide Approved, Vet_approved Pharma 73
Oxidized glutathione Approved, Experimental, Investigational Pharma 0
Water Approved Pharma 0

(40) Additional Compounds for GPX4 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • (15S)-15-Hydroxy-5,8,11-cis-13-trans-eicosatetraenoate
  • (15S)-15-Hydroxy-5,8,11-cis-13-trans-eicosatetraenoic acid
  • (15S)-15-Hydroxy-5,8,11-cis-13-trans-eicosic acid
  • (15S)-15-Hydroxy-5,8,11-cis-13-trans-icosatetraenoate
  • (15S)-15-Hydroxy-5,8,11-cis-13-trans-icosatetraenoic acid
  • (5Z,8Z,11Z,13E)-(15S)-15-Hydroperoxyicosa-5,8,11,13-tetraenoate
  • (5Z,8Z,11Z,13E)-(15S)-15-Hydroperoxyicosa-5,8,11,13-tetraenoic acid
  • 15-Hydroperoxyeicosatetraenoate
  • 15-Hydroperoxyeicosatetraenoic acid
  • 15-Hydroperoxyicosatetraenoate
5(S)-Hydroperoxyeicosatetraenoic acid
  • (6E,8Z,11Z,14Z)-(5S)-5-hydroperoxyeicosa-6,8,11,14-tetraenoate
  • (6E,8Z,11Z,14Z)-(5S)-5-hydroperoxyeicosa-6,8,11,14-tetraenoic acid
  • 5(S)-Hydroperoxy-6-trans-8,11,14-cis-eicosatetraenoate
  • 5(S)-Hydroperoxy-6-trans-8,11,14-cis-eicosatetraenoic acid
  • 5-Hydroperoxy-6-trans-8,11,14-cis-eicosatetraenoate
  • 5(S)-HETE
  • 5(S)-Hydroxy-6-trans-8,11,14-cis-eicosatetraenoate
  • 5(S)-Hydroxy-6-trans-8,11,14-cis-eicosatetraenoic acid
  • 5(S)-Hydroxyeicosatetraenoate
  • 5(S)-Hydroxyeicosatetraenoic acid
  • (5S,6E,8Z,11Z,14Z)-5-hydroperoxyicosa-6,8,11,14-tetraenoate
  • (5S,6E,8Z,11Z,14Z)-5-hydroperoxyicosa-6,8,11,14-tetraenoic acid
  • (6E,8Z,11Z,14Z)-(5S)-5-Hydroperoxyeicosa-6,8,11,14-tetraenoate
  • (6E,8Z,11Z,14Z)-(5S)-5-Hydroperoxyeicosa-6,8,11,14-tetraenoic acid
  • 5(S)-HPETE
genes like me logo Genes that share compounds with GPX4: view

Transcripts for GPX4 Gene

Unigene Clusters for GPX4 Gene

Glutathione peroxidase 4:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GPX4 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b · 8c
SP1: - - - -
SP2: - - - - -
SP3: - - -
SP4: - - - - -
SP5: -

Relevant External Links for GPX4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for GPX4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GPX4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GPX4 Gene

This gene is overexpressed in Testis (x4.3).

Protein differential expression in normal tissues from HIPED for GPX4 Gene

This gene is overexpressed in Brain (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GPX4 Gene

Protein tissue co-expression partners for GPX4 Gene

NURSA nuclear receptor signaling pathways regulating expression of GPX4 Gene:


SOURCE GeneReport for Unigene cluster for GPX4 Gene:


mRNA Expression by UniProt/SwissProt for GPX4 Gene:

Tissue specificity: Present primarily in testis.

Evidence on tissue expression from TISSUES for GPX4 Gene

  • Lung(4.9)
  • Nervous system(4.9)
  • Eye(4.8)
  • Liver(4.7)
  • Pancreas(4.7)
  • Intestine(3.5)
  • Muscle(3.4)
  • Kidney(3.2)
  • Heart(3)
  • Blood(2.7)
  • Skin(2.6)
  • Thyroid gland(2.6)
  • Bone marrow(2.4)
  • Adrenal gland(2.2)
  • Gall bladder(2)
  • Lymph node(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GPX4 Gene

Germ Layers:
  • ectoderm
  • mesoderm
  • cardiovascular
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • ear
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • chest wall
  • clavicle
  • heart
  • heart valve
  • rib
  • rib cage
  • scapula
  • sternum
  • pelvis
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with GPX4: view

Orthologs for GPX4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GPX4 Gene

Organism Taxonomy Gene Similarity Type Details
(Monodelphis domestica)
Mammalia GPX4 34
  • 91 (a)
(Bos Taurus)
Mammalia GPX4 33 34
  • 89.17 (n)
(Rattus norvegicus)
Mammalia Gpx4 33
  • 86.13 (n)
(Mus musculus)
Mammalia Gpx4 33 16 34
  • 83.42 (n)
(Ornithorhynchus anatinus)
Mammalia GPX4 34
  • 83 (a)
(Pan troglodytes)
Mammalia GPX4 34
  • 76 (a)
(Anolis carolinensis)
Reptilia GPX4 34
  • 74 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia gpx4 33
  • 64.94 (n)
Str.6328 33
(Danio rerio)
Actinopterygii gpx4a 34
  • 71 (a)
gpx4b 33 34
  • 68.78 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.584 33
fruit fly
(Drosophila melanogaster)
Insecta CG12013 35
  • 44 (a)
CG15116 34
  • 34 (a)
PHGPx 34
  • 34 (a)
(Caenorhabditis elegans)
Secernentea T09A12.2 35 33
  • 50.1 (n)
F26E4.12 35
  • 48 (a)
R05H10.5 35
  • 48 (a)
gpx-1 34
  • 44 (a)
gpx-2 34
  • 41 (a)
gpx-6 34
  • 40 (a)
gpx-7 34
  • 37 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GPX2 33 34
  • 50.54 (n)
HYR1 34
  • 40 (a)
GPX1 34
  • 36 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons GPX7 33
  • 54.47 (n)
(Glycine max)
eudicotyledons Gma.2160 33
(Oryza sativa)
Liliopsida Os.4833 33
(Triticum aestivum)
Liliopsida Ta.5358 33
(Zea mays)
Liliopsida Zm.6203 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 30 (a)
Species where no ortholog for GPX4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for GPX4 Gene

Gene Tree for GPX4 (if available)
Gene Tree for GPX4 (if available)

Paralogs for GPX4 Gene

Paralogs for GPX4 Gene

(3) SIMAP similar genes for GPX4 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with GPX4: view

Variants for GPX4 Gene

Sequence variations from dbSNP and Humsavar for GPX4 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs769967246 pathogenic, Spondylometaphyseal dysplasia Sedaghatian type 1,105,456(+) C/A/T coding_sequence_variant, stop_gained, synonymous_variant
rs775146234 pathogenic, Spondylometaphyseal dysplasia Sedaghatian type 1,105,814(+) G/A intron_variant
rs1000651715 -- 1,103,114(+) C/T upstream_transcript_variant
rs1000843303 -- 1,103,477(+) A/C upstream_transcript_variant
rs1001016264 -- 1,102,840(+) C/T upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for GPX4 Gene

Variant ID Type Subtype PubMed ID
nsv9662 CNV gain 18304495
nsv953939 CNV deletion 24416366
nsv953938 CNV deletion 24416366
nsv833704 CNV gain 17160897
nsv828367 CNV gain 20364138
nsv828366 CNV loss 20364138
nsv578215 CNV gain 21841781
nsv470103 CNV gain 18288195
nsv470102 CNV loss 18288195
nsv469845 CNV loss 16826518
nsv1160555 CNV deletion 26073780
nsv1126498 CNV deletion 24896259
nsv1058677 CNV loss 25217958
esv2758743 CNV gain+loss 17122850
dgv136n111 CNV deletion 26073780
dgv135n111 CNV deletion 26073780

Variation tolerance for GPX4 Gene

Residual Variation Intolerance Score: 70.2% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GPX4 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GPX4 Gene

Disorders for GPX4 Gene

MalaCards: The human disease database

(7) MalaCards diseases for GPX4 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
spondylometaphyseal dysplasia, sedaghatian type
  • smds
neurotic disorder
  • depressive neurosis
shoulder impingement syndrome
  • impingement syndrome of shoulder region
miller-dieker lissencephaly syndrome
  • mdls
  • brachyrachia
- elite association - COSMIC cancer census association via MalaCards
Search GPX4 in MalaCards View complete list of genes associated with diseases


  • Spondylometaphyseal dysplasia, Sedaghatian type (SMDS) [MIM:250220]: A form of spondylometaphyseal dysplasia, a group of short stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the tubular bones. SMDS is a neonatal lethal form characterized by severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, cardiac conduction defects, and central nervous system abnormalities. {ECO:0000269 PubMed:24706940}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for GPX4

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GPX4: view

No data available for Genatlas for GPX4 Gene

Publications for GPX4 Gene

  1. Genetic variations of gpx-4 and male infertility in humans. (PMID: 12606444) Maiorino M … Flohe L (Biology of reproduction 2003) 3 4 22 44 58
  2. Genetic variants in selenoprotein genes increase risk of colorectal cancer. (PMID: 20378690) Méplan C … Hesketh JE (Carcinogenesis 2010) 3 22 44 58
  3. Functional effects of a common single-nucleotide polymorphism (GPX4c718t) in the glutathione peroxidase 4 gene: interaction with sex. (PMID: 18400727) Méplan C … Hesketh JE (The American journal of clinical nutrition 2008) 3 22 44 58
  4. Common germline genetic variation in antioxidant defense genes and survival after diagnosis of breast cancer. (PMID: 17634480) Udler M … Pharoah P (Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2007) 3 22 44 58
  5. Structural basis for catalytic activity and enzyme polymerization of phospholipid hydroperoxide glutathione peroxidase-4 (GPx4). (PMID: 17630701) Scheerer P … Kuhn H (Biochemistry 2007) 3 4 22 58

Products for GPX4 Gene

Sources for GPX4 Gene