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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
31
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Hemolytic anemia due to glutathione reductase deficiency Likely pathogenic; Pathogenic rs2486583478, rs1040248294, rs1345036090, rs1586033745 RCV003990644
RCV003990930
RCV000856712
RCV000856713
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AMYOTROPHIC LATERAL SCLEROSIS CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANEMIA CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 10 HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANEMIA, HEMOLYTIC CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute pancreatitis Pancreatitis BEFREE 30984340
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 12447480
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 30978928
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 24115172
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 8915893
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 29448841
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 22242180 Associate
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 16681429, 29218049
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis CTD_human_DG 16681429
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis With Dementia Amyotrophic Lateral Sclerosis With Dementia CTD_human_DG 16681429
★☆☆☆☆
Found in Text Mining only