Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2936
Gene name Gene Name - the full gene name approved by the HGNC.
Glutathione-disulfide reductase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GSR
Synonyms (NCBI Gene) Gene synonyms aliases
CNSHA10, GR, GSRD, HEL-75, HEL-S-122m
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CNSHA10
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8p12
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004362 Function Glutathione-disulfide reductase activity IBA 21873635
GO:0005739 Component Mitochondrion IBA 21873635
GO:0005759 Component Mitochondrial matrix TAS
GO:0005829 Component Cytosol IBA 21873635
GO:0005829 Component Cytosol IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
138300 4623 ENSG00000104687
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Amyotrophic lateral sclerosis Amyotrophic Lateral Sclerosis, Amyotrophic Lateral Sclerosis, Guam Form rs267607084, rs312262720, rs312262752, rs121908287, rs121908288, rs29001584, rs28941475, rs121434378, rs386134173, rs386134174, rs80356730, rs80356727, rs4884357, rs80356717, rs80356733
View all (171 more)
16681429
Anemia Anemia, Anemia, Hemolytic, Anemia, Hemolytic, Acquired, Anemia, Microangiopathic rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
5984971, 13931269
Dermatitis Contact Dermatitis rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174 25724174
Hemolytic anemia Hemolytic anemia due to glutathione reductase deficiency rs104894025, rs104894026, rs397518435, rs397518436, rs104894027, rs397518437, rs104894028, rs397518438, rs104894029, rs137853583, rs137853585, rs137853586, rs137853587, rs267606851, rs267606852
View all (18 more)
Associations from Text Mining
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