GSR (glutathione-disulfide reductase)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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2936 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Glutathione-disulfide reductase |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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GSR |
SynonymsGene synonyms aliases
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CNSHA10, GR, GSRD, HEL-75, HEL-S-122m |
ChromosomeChromosome number
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8 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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8p12 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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 |
SNPsSNP information provided by dbSNP.
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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 |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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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
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1K4Q
,
1XAN
,
2AAQ
,
2GH5
,
2GRT
,
3DJG
,
3DJJ
,
3DK4
,
3DK8
,
3DK9
,
3GRS
,
3GRT
,
3SQP
,
4GR1
,
4GRT
,
5GRT
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Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00070 |
Pyr_redox |
233 → 312 |
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Domain |
PF02852 |
Pyr_redox_dim |
411 → 522 |
Pyridine nucleotide-disulphide oxidoreductase, dimerisation domain |
Domain |
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Sequence |
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Sequence length |
522 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Causal |
Disease name |
Disease term |
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, rs80356731, rs80356726, rs267606928, rs267606929, rs1885090126, rs121434591, rs121912431, rs121912432, rs121912433, rs121912434, rs121912435, rs121912440, rs121912436, rs121912437, rs121912438, rs121912439, rs74315452, rs121912442, rs121912443, rs121912444, rs121912446, rs121912447, rs1197141604, rs121912448, rs121912449, rs121912450, rs121912451, rs121912452, rs121912453, rs121912454, rs369600566, rs121912455, rs121912456, rs121912457, rs121912458, rs1555836889, rs121909667, rs121909668, rs121909669, rs121909671, rs121909535, rs121909537, rs121909538, rs121909539, rs121909540, rs121909542, rs121909544, rs80356734, rs367543041, rs80356740, rs80356719, rs80356721, rs80356723, rs80356725, rs387906627, rs387906628, rs387906709, rs387906710, rs387906711, rs387906829, rs387907264, rs387907265, rs387907266, rs312262739, rs312262709, rs312262749, rs200793464, rs147713329, rs312262788, rs397514262, rs63751180, rs587777132, rs730880025, rs730880026, rs730880027, rs368743618, rs730880029, rs730882255, rs730882256, rs786205611, rs121912441, rs199947197, rs780136067, rs772731615, rs879253926, rs879254294, rs764717219, rs886041390, rs750159428, rs753207473, rs267607087, rs767350733, rs778305085, rs1554707680, rs1554707622, rs1393363759, rs750959420, rs1555509569, rs1554716504, rs11556620, rs1247392012, rs142083484, rs140385286, rs749428135, rs371575563, rs1402429085, rs1218712729, rs1555179091, rs1555179087, rs746971952, rs1555836950, rs368276916, rs140376902, rs747220413, rs76731700, rs770684782, rs1200906022, rs1804449, rs1482760341, rs769898852, rs140599944, rs757972700, rs1555451521, rs1592362719, rs1555836803, rs763455928, rs1378590183, rs1583695322, rs1362178149, rs1197928094, rs368751524, rs1555509609, rs1574787779, rs1601157750, rs1301635320, rs1341055534, rs1402092579, rs1568809172, rs1555836170, rs1315541036, rs1339283341, rs1643659556, rs1644506661, rs1435710212, rs1553122918, rs1689580631, rs374047961, rs775935265, rs2076486420, rs1820836522, rs757260058, rs1844420892, rs1833371664, rs1833438306, rs1833451208, rs2083790483, rs1303294230, rs1226110412, rs2053207945, rs2053208751, rs2053501632, rs2053539304, rs1567479067, rs544088874, rs1228194239, rs1568807400, rs1169198442, rs2049594204, rs2049594311, rs1568810641, rs1568811372, rs2049618449, rs1476760624, rs2079347087 |
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, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505 |
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, rs267606853, rs137853249, rs33924146, rs104894101, rs104894102, rs137853203, rs137853204, rs137853205, rs387906582, rs387906583, rs398122379, rs1064794848, rs774419705, rs1555367318, rs1345036090, rs1586033745, rs1571436535, rs2022057 |
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Hyperthyroidism |
Hyperthyroidism, Primary Hyperthyroidism |
rs121908861, rs121908864, rs121908874, rs121908875, rs121908876, rs121908877, rs121908873, rs121908880, rs121908883, rs121909258, rs6256, rs869312167 |
19914224 |
Parkinson disease |
Parkinsonian Disorders, Autosomal Dominant Juvenile Parkinson Disease, PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE |
rs116074753, rs118203903, rs118203904, rs115735611, rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432, rs74315361, rs119451946, rs80356771, rs74500255, rs75822236, rs1141814, rs78973108, rs121908681, rs121908686, rs121908687, rs137853054, rs137853055, rs137853056, rs137853057, rs137853058, rs137853059, rs34424986, rs137853060, rs397518439, rs28938172, rs74315351, rs74315353, rs137853051, rs118192098, rs121917767, rs121918104, rs1589451049, rs104893877, rs104893878, rs283413, rs112176450, rs111290936, rs188286943, rs387906863, rs387906864, rs774631197, rs199935023, rs387906942, rs397514694, rs398122403, rs398122404, rs398122405, rs104886460, rs409652, rs431905511, rs63751392, rs756677845, rs864309527, rs864309650, rs750014782, rs1554391082, rs864622011, rs869312810, rs869312809, rs869312811, rs369100678, rs879253853, rs869320761, rs747506979, rs879255630, rs886039854, rs191486604, rs781442277, rs1060499619, rs751037529, rs55777503, rs768091663, rs34208370, rs1553122929, rs772786691, rs754809877, rs1555907463, rs1557561340, rs781600849, rs141263564, rs1557901552, rs777160388, rs756783990, rs867929413, rs1237637353, rs1005937012, rs755000580, rs747427602, rs1578089802, rs771586218, rs748142049, rs1582953433, rs746646126, rs771529549, rs121918106 |
22721943 |
Prostate cancer |
Prostate carcinoma |
rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582 |
31095341 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Amyotrophic lateral sclerosis with dementia |
Amyotrophic Lateral Sclerosis With Dementia |
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16681429 |
Degenerative diseases, central nervous system |
Degenerative Diseases, Central Nervous System, Degenerative Diseases, Spinal Cord |
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15964507 |
Enzymopathy |
Enzymopathy |
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8533822 |
Hypoglycemia |
Hypoglycemia |
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20620209 |
Microangiopathic hemolytic anemia |
Microangiopathic hemolytic anemia |
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13931269 |
Neurodegenerative disorders |
Neurodegenerative Disorders |
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15964507 |
Parkinsonian disease |
Autosomal Dominant Parkinsonism, Autosomal Recessive Parkinsonism, Familial Juvenile Parkinsonism, Parkinsonism, Juvenile |
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22721943 |
Ramsay hunt paralysis syndrome |
Ramsay Hunt Paralysis Syndrome |
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22721943 |
Reactive hypoglycemia |
Reactive hypoglycemia |
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20620209 |
Ureteral calculi |
Ureteral Calculi |
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24360074 |
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