Gene Gene information from NCBI Gene database.
Entrez ID 2936
Gene name Glutathione-disulfide reductase
Gene symbol GSR
Synonyms (NCBI Gene)
CNSHA10GRGSRDHEL-75HEL-S-122m
Chromosome 8
Chromosome location 8p12
Summary This gene encodes a member of the class-I pyridine nucleotide-disulfide oxidoreductase family. This enzyme is a homodimeric flavoprotein. It is a central enzyme of cellular antioxidant defense, and reduces oxidized glutathione disulfide (GSSG) to the sulf
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs1345036090 C>T Pathogenic Stop gained, intron variant, coding sequence variant
rs1586033745 C>G Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
736
miRTarBase ID miRNA Experiments Reference
MIRT029742 hsa-miR-26b-5p Sequencing 20371350
MIRT032416 hsa-let-7b-5p Proteomics 18668040
MIRT032416 hsa-let-7b-5p CLASH 23622248
MIRT047077 hsa-miR-183-5p CLASH 23622248
MIRT037682 hsa-miR-744-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
GO ID Ontology Definition Evidence Reference
GO:0004362 Function Glutathione-disulfide reductase (NADPH) activity IBA
GO:0004362 Function Glutathione-disulfide reductase (NADPH) activity IEA
GO:0004362 Function Glutathione-disulfide reductase (NADPH) activity TAS 947404
GO:0005737 Component Cytoplasm IEA
GO:0005739 Component Mitochondrion HTP 34800366
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
138300 4623 ENSG00000104687
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P00390
Protein name Glutathione reductase, mitochondrial (GR) (GRase) (EC 1.8.1.7)
Protein function Catalyzes the reduction of glutathione disulfide (GSSG) to reduced glutathione (GSH). Constitutes the major mechanism to maintain a high GSH:GSSG ratio in the cytosol.
PDB 1ALG , 1BWC , 1DNC , 1GRA , 1GRB , 1GRE , 1GRF , 1GRG , 1GRH , 1GRT , 1GSN , 1K4Q , 1XAN , 2AAQ , 2GH5 , 2GRT , 3DJG , 3DJJ , 3DK4 , 3DK8 , 3DK9 , 3GRS , 3GRT , 3SQP , 4GR1 , 4GRT , 5GRT
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00070 Pyr_redox 233 312 Domain
PF02852 Pyr_redox_dim 411 522 Pyridine nucleotide-disulphide oxidoreductase, dimerisation domain Domain
Sequence
MALLPRALSAGAGPSWRRAARAFRGFLLLLPEPAALTRALSRAMACRQEPQPQGPPPAAG
AVASYDYLVIGGGSGGLASARRAAELGARAAVVESHKLGGTCVNVGCVPKKVMWNTAVHS
EFMHDHADYGFPSCEGKFNWRVIKEKRDAYVSRLNAIYQNNLTKSHIEIIRGHAAFTSDP
KPTIEVSGKKYTAPHILIATGGMPSTPHESQIPGASLGITSDGFFQLEELPGRSVIVGAG
YIAVEMAGILSALGSKTSLMIRHDKVLRSFDSMISTNCTEELENAGVEVLKFSQVKEVKK
TLSGLEVSMVTA
VPGRLPVMTMIPDVDCLLWAIGRVPNTKDLSLNKLGIQTDDKGHIIVD
EFQNTNVKGIYAVGDVCGKALLTPVAIAAGRKLAHRLFEYKEDSKLDYNNIPTVVFSHPP
IGTVGLTEDEAIHKYGIENVKTYSTSFTPMYHAVTKRKTKCVMKMVCANKEEKVVGIHMQ
GLGCDEMLQGFAVAVKMGATKADFDNTVAIHPTSSEELVTLR
Sequence length 522
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Glutathione metabolism
Metabolic pathways
Thyroid hormone synthesis
Diabetic cardiomyopathy
  Detoxification of Reactive Oxygen Species
Interconversion of nucleotide di- and triphosphates
TP53 Regulates Metabolic Genes
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
108
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hemolytic anemia due to glutathione reductase deficiency Likely pathogenic; Pathogenic rs2486583478, rs1040248294, rs1345036090, rs1586033745 RCV003990644
RCV003990930
RCV000856712
RCV000856713
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cholangiocarcinoma Benign rs74518074 RCV005869545
Chronic lymphocytic leukemia/small lymphocytic lymphoma Conflicting classifications of pathogenicity rs8190972 RCV005930121
Clear cell carcinoma of kidney Benign; Likely benign rs74518074 RCV005871071
Familial cancer of breast Benign; Likely benign rs147119692, rs28641651, rs74518074 RCV005926486
RCV005900795
RCV005869541
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 22242180
Anemia Hemolytic Associate 24693973
Anemia Hemolytic Congenital Associate 35361806
Asthma Associate 24895604, 35606385
Autistic Disorder Associate 22051046
Biliary Tract Neoplasms Associate 31590928
Bipolar Disorder Associate 19568477
Breast Neoplasms Associate 16868544
Carcinoma Hepatocellular Associate 36635256
Carcinoma Non Small Cell Lung Associate 33746607