GSR
glutathione-disulfide reductase
Basic information
Region (hg38): 8:30678066-30727846
Links
Phenotypes
GenCC
Source:
- hemolytic anemia due to glutathione reductase deficiency (Limited), mode of inheritance: AR
- hemolytic anemia due to glutathione reductase deficiency (Strong), mode of inheritance: AR
- hemolytic anemia due to glutathione reductase deficiency (Supportive), mode of inheritance: AR
Clinical Genomic Database
Source:
| Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
|---|---|---|---|---|---|
| Hemolytic anemia due to glutathione reductase deficiency | AR | Hematologic | Individuals are susceptible to hemolytic anemia, and awareness may allow early management as well as avoidance of triggers of hemolysis (eg, fava beans) | Hematologic | 6017801; 17185460 |
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the GSR gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 18 | 22 | ||||
| missense | 63 | 71 | ||||
| nonsense | 2 | |||||
| start loss | 0 | |||||
| frameshift | 1 | |||||
| inframe indel | 1 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 1 | 8 | 3 | 12 | ||
| non coding | 22 | 28 | ||||
| Total | 0 | 2 | 68 | 26 | 29 |
Variants in GSR
This is a list of pathogenic ClinVar variants found in the GSR region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| GSR | protein_coding | protein_coding | ENST00000221130 | 13 | 49861 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.00000129 | 0.954 | 125713 | 0 | 35 | 125748 | 0.000139 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.512 | 247 | 271 | 0.912 | 0.0000154 | 3360 |
| Missense in Polyphen | 115 | 127.17 | 0.90428 | 1477 | ||
| Synonymous | 0.585 | 95 | 103 | 0.927 | 0.00000640 | 1047 |
| Loss of Function | 1.89 | 13 | 22.7 | 0.572 | 0.00000114 | 290 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000119 | 0.000119 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.0000544 | 0.0000544 |
| Finnish | 0.0000462 | 0.0000462 |
| European (Non-Finnish) | 0.000158 | 0.000158 |
| Middle Eastern | 0.0000544 | 0.0000544 |
| South Asian | 0.000294 | 0.000294 |
| Other | 0.000489 | 0.000489 |
dbNSFP
Source:
- Function
- FUNCTION: Maintains high levels of reduced glutathione in the cytosol.;
- Pathway
- Thyroid hormone synthesis - Homo sapiens (human);Glutathione metabolism - Homo sapiens (human);Oxidative Stress Pathway (Erythrocyte);Pathway_PA165980337;Oxidative Stress Pathway (Erythrocyte);Oxidative Stress Regulatory Pathway (Erythrocyte);2-Hydroxyglutric Aciduria (D And L Form);Gamma-glutamyl-transpeptidase deficiency;5-oxoprolinase deficiency;Gamma-Glutamyltransferase Deficiency;Glutathione Metabolism;Homocarnosinosis;Hyperinsulinism-Hyperammonemia Syndrome;Glutathione Synthetase Deficiency;Succinic semialdehyde dehydrogenase deficiency;4-Hydroxybutyric Aciduria/Succinic Semialdehyde Dehydrogenase Deficiency;5-Oxoprolinuria;Glutamate Metabolism;Glutathione metabolism;Selenium Micronutrient Network;Nuclear Receptors Meta-Pathway;NRF2 pathway;Amino Acid metabolism;One carbon metabolism and related pathways;Oxidative Stress;Sulfation Biotransformation Reaction;Metapathway biotransformation Phase I and II;Detoxification of Reactive Oxygen Species;Gene expression (Transcription);Metabolism of ingested H2SeO4 and H2SeO3 into H2Se;glutathione redox reactions I;Generic Transcription Pathway;Metabolism of nucleotides;Cellular responses to stress;Glutamate Glutamine metabolism;Metabolism of amino acids and derivatives;Interconversion of nucleotide di- and triphosphates;RNA Polymerase II Transcription;Metabolism;Selenoamino acid metabolism;TP53 Regulates Metabolic Genes;Cellular responses to external stimuli;Urea cycle and metabolism of arginine, proline, glutamate, aspartate and asparagine;glutathione redox reactions II;Transcriptional Regulation by TP53
(Consensus)
Intolerance Scores
- loftool
- 0.468
- rvis_EVS
- -0.36
- rvis_percentile_EVS
- 29.31
Haploinsufficiency Scores
- pHI
- 0.160
- hipred
- Y
- hipred_score
- 0.589
- ghis
- 0.521
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.909
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Gsr
- Phenotype
- normal phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); vision/eye phenotype;
Gene ontology
- Biological process
- glutathione metabolic process;nucleobase-containing small molecule interconversion;electron transport chain;cellular response to oxidative stress;cell redox homeostasis;cellular oxidant detoxification
- Cellular component
- mitochondrion;mitochondrial matrix;cytosol;external side of plasma membrane;extracellular exosome
- Molecular function
- glutathione-disulfide reductase activity;electron transfer activity;flavin adenine dinucleotide binding;NADP binding