G6PD (glucose-6-phosphate dehydrogenase)

2003-05-01  

Identity

HGNC
G6PD
LOCATION
Xq28
LOCUSID
2539
ALIAS
G6PD1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 2539
MIM: 305900
HGNC: 4057
Ensembl: ENSG00000160211

Variants:

dbSNP: 2539
ClinVar: 2539
TCGA: ENSG00000160211
COSMIC: G6PD

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000160211ENST00000369620P11413
ENSG00000160211ENST00000393562P11413
ENSG00000160211ENST00000393562A0A384NL00
ENSG00000160211ENST00000393564P11413
ENSG00000160211ENST00000393564A0A384NL00
ENSG00000160211ENST00000433845E9PD92
ENSG00000160211ENST00000439227E7EUI8
ENSG00000160211ENST00000440967E7EM57

Expression (GTEx)

0
50
100
150
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Pentose phosphate pathwayKEGGko00030
Glutathione metabolismKEGGko00480
Pentose phosphate pathwayKEGGhsa00030
Glutathione metabolismKEGGhsa00480
Metabolic pathwaysKEGGhsa01100
Pentose phosphate pathway (Pentose phosphate cycle)KEGGhsa_M00004
Pentose phosphate pathway, oxidative phase, glucose 6P => ribulose 5PKEGGhsa_M00006
Pentose phosphate pathway (Pentose phosphate cycle)KEGGM00004
Pentose phosphate pathway, oxidative phase, glucose 6P => ribulose 5PKEGGM00006
Carbon metabolismKEGGhsa01200
Carbon metabolismKEGGko01200
Central carbon metabolism in cancerKEGGhsa05230
Central carbon metabolism in cancerKEGGko05230
Gene ExpressionREACTOMER-HSA-74160
Generic Transcription PathwayREACTOMER-HSA-212436
Transcriptional Regulation by TP53REACTOMER-HSA-3700989
TP53 Regulates Metabolic GenesREACTOMER-HSA-5628897
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Pentose phosphate pathway (hexose monophosphate shunt)REACTOMER-HSA-71336

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA10176rasburicaseChemicalClinicalAnnotation, GuidelineAnnotation, LabelAnnotation, Literature, MultilinkAnnotation, VariantAnnotation, VipGeneassociatedPD12075750, 12942574, 16204390, 17387701, 18561168, 19654083, 2019023, 20196170, 20701405, 22015451, 22190578, 22573495, 23209099, 23860572, 23989394, 24372186, 24750455, 24787449, 24915143, 25115783, 25988058, 26033222, 27119769, 28370399, 29290749, 9369411
PA10715sulfamethoxazole and trimethoprimChemicalClinicalAnnotation, LabelAnnotation, MultilinkAnnotation, VariantAnnotationambiguousPD16388034, 18349424, 20065266, 20732351, 24372186, 3495027, 4116253, 4120538, 4574753, 46571, 4818663, 5061461, 751223, 990860
PA10892gliclazideChemicalLabelAnnotationassociated
PA162370415Metabolic SyndromeDiseaseVipGeneassociated
PA164713229Quinolone AntibacterialsChemicalMultilinkAnnotationassociated24372186
PA164713397Vitamin B-complex with vitamin CChemicalLabelAnnotationassociated
PA164746384nalidixic acidChemicalLabelAnnotation, VariantAnnotationassociatedPD4190560
PA164746899phenazopyridineChemicalClinicalAnnotation, Literature, MultilinkAnnotation, VariantAnnotation, VipGeneassociatedPD20701405, 24372186, 6125724, 6410650
PA164747026trihexyphenidylChemicalVariantAnnotationnot associatedPD
PA164747038sulfametopyrazineChemicalClinicalAnnotation, VariantAnnotationambiguousPD1247492, 4574753
PA164748741mepivacaineChemicalLabelAnnotationassociated
PA164774902tolazamideChemicalLabelAnnotationassociated
PA164777036hydroxychloroquineChemicalLabelAnnotationassociated
PA165108889FavismDiseaseVipGeneassociated10643148
PA165111697artesunateChemicalClinicalAnnotationassociatedPD
PA165857066Anemia, Hemolytic, Congenital NonspherocyticDiseaseVipGeneassociated11852882
PA165857067chlorproguanilChemicalClinicalAnnotation, VipGeneassociatedPD20599264, 12387962, 15183620
PA1658586183-aminopyridine-2-carboxaldehyde thiosemicarbazoneChemicalVipGeneassociated16493607
PA165947827G6PD A- 202A_376GHaplotypeVipGeneassociated1138591, 12064901, 15126005, 15183620, 18452027, 18494377, 1879833, 21376116, 2321910, 2572288, 4108978, 5091568, 5448, 6433630, 7617034, 7906668, 8648264, 10747271
PA165958406dimercaprolChemicalClinicalAnnotation, MultilinkAnnotation, VariantAnnotationassociatedPD417891
PA165963961pegloticaseChemicalClinicalAnnotation, LabelAnnotation, VariantAnnotationassociatedPD25224415, 26906307
PA166048714PregnancyDiseaseVariantAnnotationassociatedPD5897424
PA166048814HyperuricemiaDiseaseVariantAnnotationassociatedPD18561168, 2019023, 22573495, 23209099
PA166048926Lead Poisoning, Nervous System, ChildhoodDiseaseClinicalAnnotation, VariantAnnotationassociatedPD417891
PA166114911dabrafenibChemicalLabelAnnotationassociated
PA166114925mafenideChemicalLabelAnnotation, VariantAnnotationassociatedPD4722683
PA166115361sodium nitriteChemicalLabelAnnotationassociated
PA166115364trametinibChemicalLabelAnnotationassociated
PA166115579pamaquineChemicalMultilinkAnnotation, VariantAnnotationassociatedPD23530079
PA166115580tafenoquineChemicalLabelAnnotation, VariantAnnotationassociatedPD
PA166115581sitamaquineChemicalVariantAnnotationassociatedPD
PA166123066menadione sodium bisulfiteChemicalVariantAnnotationnot associatedPD
PA166154579rs4149056VariantLabelAnnotationassociated
PA166157859rs1050828VariantVipGeneassociated12064901, 17018380, 11852882
PA166157860rs1050829VariantVipGeneassociated12064901, 18494377, 3446582, 10747271
PA166157867rs2230037VariantVipGeneassociated2321910
PA166157880rs5030868VariantVipGeneassociated18177777, 2321910, 2502894, 8562390, 8648264, 12064901
PA166157888rs72554665VariantVipGeneassociated10745013, 11499668, 12064901, 17018380, 1953767, 4379606, 7949118, 8364584, 10643148
PA166163260moviprepChemicalLabelAnnotationassociated
PA166176008erythromycin ethylsuccinate / sulfisoxazole acetylChemicalLabelAnnotationassociated
PA166176018lidocaine / prilocaineChemicalLabelAnnotationassociated
PA166182735lidocaine and tetracaineChemicalLabelAnnotationassociated
PA166182783articaine / epinephrineChemicalLabelAnnotationassociated
PA166182885oxymetazoline and tetracaineChemicalLabelAnnotationassociated
PA166183785amlodipine / atorvastatin / perindopril arginineChemicalLabelAnnotationassociated
PA166183788metabutethamineChemicalLabelAnnotationassociated
PA166184057bisoprolol fumarate / perindopril arginineChemicalLabelAnnotationassociated
PA166184059carbasalate calciumChemicalLabelAnnotationassociated
PA166184061acetaminophen / codeineChemicalLabelAnnotationassociated
PA166184081nicorandilChemicalLabelAnnotationassociated
PA166184496acetaminophen / tramadolChemicalLabelAnnotationassociated
PA166184497Paracetamol, combinations excl. Psycholeptics (Vicks MediNait Sirup)ChemicalLabelAnnotationassociated
PA443250Acquired Immunodeficiency SyndromeDiseaseVipGeneassociated21376267
PA443340AnemiaDiseaseVariantAnnotation, VipGeneambiguousPD11852882, 4574753
PA443343Anemia, HemolyticDiseaseClinicalAnnotation, MultilinkAnnotation, VariantAnnotation, VipGeneambiguousPD10643148, 10793824, 11048840, 11418378, 11824767, 11852882, 1247492, 12659, 15126005, 15587250, 15655011, 15787927, 15842651, 16179085, 16493607, 1669155, 17026773, 17444323, 18561168, 20065266, 20127091, 2019023, 20732351, 21147013, 22015451, 23135803, 23530079, 24101478, 24372186, 2502894, 26033222, 26906307, 3495027, 407765, 4190560, 4644297, 5091568, 5345938, 5559437, 5897424, 6021320, 6125724, 6410650, 79931, 9590495, 9605379
PA443425ArteriosclerosisDiseaseVipGeneassociated
PA443430ArthritisDiseaseVariantAnnotationassociatedPD2502894
PA443580Burkitt LymphomaDiseaseVariantAnnotationassociatedPD17387701, 20196170, 22190578
PA443582BurnsDiseaseVariantAnnotationassociatedPD1138591
PA443635Cardiovascular DiseasesDiseaseVipGeneassociated
PA443750Colitis, UlcerativeDiseaseVariantAnnotationassociatedPD4386139
PA443890Diabetes Mellitus, Type 2DiseaseClinicalAnnotation, VariantAnnotation, VipGeneassociatedPD15126005, 21147013, 8562390
PA444318GoutDiseaseVariantAnnotationassociatedPD25224415, 26906307
PA444400HematuriaDiseaseVariantAnnotationassociatedPD6125724
PA444411HemolysisDiseaseClinicalAnnotation, MultilinkAnnotation, VariantAnnotation, VipGeneambiguousPD10772204, 10793824, 11048840, 1138591, 11418378, 11824767, 11852882, 12075750, 1247492, 12659, 12942574, 13360274, 15587250, 15655011, 15787927, 15842651, 16179085, 16204390, 16388034, 16493607, 1669155, 17026773, 17387701, 17444323, 18349424, 18561168, 19654083, 19883154, 20065266, 2019023, 20196170, 20732351, 21147013, 22015451, 22190578, 22573495, 23135803, 23209099, 23860572, 23989394, 24750455, 2502894, 25115783, 25224415, 25988058, 26033222, 26906307, 28370399, 2858743, 29290749, 3495027, 4116253, 4120538, 417891, 4386139, 4574753, 4644297, 46571, 4722683, 4818663, 5061461, 5091568, 5345938, 5559437, 5897424, 6021320, 6125724, 6410650, 751223, 9369411, 9590495, 9605379, 990860
PA444511HyperbilirubinemiaDiseaseVariantAnnotation, VipGeneassociatedPD11048840
PA444614InfectionDiseaseVariantAnnotationnot associatedPD4120538
PA444626Insulin ResistanceDiseaseVipGeneassociated
PA444648JaundiceDiseaseVariantAnnotationassociatedPD15787927
PA444650Jaundice, NeonatalDiseaseVipGeneassociated11852882
PA444683Kidney Failure, AcuteDiseaseVariantAnnotationassociatedPD16204390, 23989394
PA444750LeukemiaDiseaseVariantAnnotationassociatedPD
PA444756Leukemia, LymphoidDiseaseVariantAnnotationassociatedPD23860572
PA444859MalariaDiseaseClinicalAnnotation, VariantAnnotationambiguousPD10772204, 11757641, 15183620, 20963329, 23135803, 23530079, 24101478, 2858743, 3301042, 4574753, 6345013, 9753421
PA444942MethemoglobinemiaDiseaseClinicalAnnotation, VariantAnnotationassociatedPD11418378, 12075750, 12942574, 15587250, 15787927, 15842651, 16204390, 16493607, 17387701, 18561168, 19654083, 2019023, 20196170, 22015451, 22190578, 22573495, 23209099, 23860572, 23989394, 24750455, 25115783, 25224415, 25988058, 26033222, 26906307, 27119769, 28370399, 29290749, 5091568, 9369411, 9590495, 9605379
PA445062NeoplasmsDiseaseVariantAnnotation, VipGeneassociatedPD12075750, 12942574, 19654083, 2019023
PA445355PneumoniaDiseaseVariantAnnotationnot associatedPD16388034, 19883154
PA445428Protein DeficiencyDiseaseClinicalAnnotationassociatedPD11048840, 11418378, 11824767, 12075750, 12942574, 15587250, 15655011, 15787927, 15842651, 16179085, 16204390, 16493607, 17026773, 17387701, 17444323, 18561168, 19654083, 2019023, 20196170, 22015451, 22190578, 22573495, 23135803, 23209099, 23860572, 23989394, 24750455, 25115783, 25988058, 26033222, 28370399, 29290749, 5091568, 9369411, 9590495, 9605379
PA445970Typhoid FeverDiseaseVariantAnnotationambiguousPD4116253, 4644297, 5559437, 751223
PA446108Colorectal NeoplasmsDiseaseVariantAnnotationassociatedPD20127091
PA446126Tumor Lysis SyndromeDiseaseVariantAnnotationassociatedPD24750455, 28370399
PA446155Precursor Cell Lymphoblastic Leukemia-LymphomaDiseaseVariantAnnotationassociatedPD9369411
PA446166Precursor T-Cell Lymphoblastic Leukemia-LymphomaDiseaseVariantAnnotationassociatedPD27119769
PA446390Malaria, FalciparumDiseaseClinicalAnnotation, VariantAnnotationambiguousPD10772204, 11757641
PA446392Malaria, VivaxDiseaseVariantAnnotationassociatedPD
PA446771SepsisDiseaseVariantAnnotationnot associatedPD3495027
PA447230HIV InfectionsDiseaseVariantAnnotation, VipGeneambiguousPD18349424, 20732351, 21376267
PA448015acetaminophenChemicalLabelAnnotation, VariantAnnotationambiguousPD
PA448382aminosalicylic acidChemicalVariantAnnotationnot associatedPD
PA448404amodiaquineChemicalClinicalAnnotationassociatedPD
PA448497aspirinChemicalClinicalAnnotation, LabelAnnotation, VariantAnnotation, VipGeneambiguousPD2502894, 714540, 993904, 10793824, 13836342, 2502894
PA448502atovaquoneChemicalVariantAnnotationnot associated19883154
PA448810carmustineChemicalVipGeneassociated539595
PA448866ceftriaxoneChemicalLabelAnnotationassociated
PA448927chloramphenicolChemicalClinicalAnnotation, VariantAnnotationambiguousPD10793824, 4116253, 4644297, 5345938, 5559437, 6021320
PA448946chloroprocaineChemicalLabelAnnotationassociated
PA448948chloroquineChemicalClinicalAnnotation, LabelAnnotation, VariantAnnotation, VipGeneambiguousPD1247492, 15655011, 16179085, 23530079, 24101478, 79931
PA448966chlorpropamideChemicalLabelAnnotationassociated
PA449009ciprofloxacinChemicalClinicalAnnotation, LabelAnnotation, MultilinkAnnotation, VariantAnnotationassociatedPD20127091
PA449092colchicineChemicalVariantAnnotationnot associatedPD
PA449211dapsoneChemicalClinicalAnnotation, LabelAnnotation, MultilinkAnnotation, VariantAnnotation, VipGeneassociatedPD20599264, 20701405, 12387962, 15183620, 18349424, 24372186
PA449212daunorubicinChemicalVariantAnnotation, VipGeneassociatedPK8648264
PA449412doxorubicinChemicalVipGeneassociated539595
PA449415doxycyclineChemicalVariantAnnotationnot associatedPD
PA449685flutamideChemicalLabelAnnotationassociated
PA449733ganciclovirChemicalVariantAnnotationnot associated19883154
PA449761glimepirideChemicalLabelAnnotationassociated
PA449762glipizideChemicalLabelAnnotationassociated
PA449782glibenclamideChemicalClinicalAnnotation, LabelAnnotation, VariantAnnotation, VipGeneassociatedPD20701405, 8562390, 15126005, 21147013, 8562390
PA450112isoniazidChemicalVariantAnnotationnot associatedPD
PA450213levodopaChemicalVariantAnnotationnot associatedPD
PA450348mefloquineChemicalClinicalAnnotation, LabelAnnotation, VariantAnnotationambiguousPD10772204, 11757641, 23530079, 24101478, 2858743, 3301042, 6345013, 9753421
PA450457methylene blueChemicalClinicalAnnotation, LabelAnnotation, MultilinkAnnotation, VariantAnnotation, VipGeneambiguousPD11048840, 11418378, 11824767, 15587250, 15655011, 15787927, 15842651, 16179085, 16493607, 17026773, 17444323, 18561168, 20701405, 22015451, 23135803, 24372186, 26033222, 27119769, 5091568, 9590495, 9605379
PA450475metoclopramideChemicalLabelAnnotationassociated
PA450555moxifloxacinChemicalLabelAnnotationassociated
PA450640nitrofurantoinChemicalClinicalAnnotation, LabelAnnotation, Literature, MultilinkAnnotation, VariantAnnotation, VipGeneassociatedPD12659, 1669155, 20701405, 5897424
PA450654norfloxacinChemicalLabelAnnotationassociated
PA450684ofloxacinChemicalLabelAnnotationassociated
PA450877perindoprilChemicalLabelAnnotationassociated
PA450932phenylbutazoneChemicalVariantAnnotationnot associatedPD
PA450947phenytoinChemicalVariantAnnotationnot associatedPD
PA450970pioglitazoneChemicalLabelAnnotationassociated
PA451101prilocaineChemicalLabelAnnotationassociated
PA451103primaquineChemicalClinicalAnnotation, LabelAnnotation, MultilinkAnnotation, VariantAnnotation, VipGeneambiguousPD10793824, 13360274, 18349424, 20701405, 20963329, 22972117, 23530079, 24101478, 24372186
PA451106probenecidChemicalLabelAnnotation, VariantAnnotationambiguousPD
PA451124proguanilChemicalVariantAnnotationnot associatedPD
PA451193pyrimethamineChemicalClinicalAnnotation, VariantAnnotationambiguousPD10772204, 4574753
PA451213quinineChemicalLabelAnnotation, VariantAnnotationassociatedPD407765
PA451271ropivacaineChemicalLabelAnnotationassociated
PA451512streptomycinChemicalVariantAnnotationnot associatedPD
PA451521succimerChemicalLabelAnnotationassociated
PA451539sulfadiazineChemicalLabelAnnotation, MultilinkAnnotationassociated24372186
PA451540sulfadoxineChemicalClinicalAnnotation, VariantAnnotationambiguousPD1247492, 4574753
PA451544sulfamethoxazoleChemicalClinicalAnnotation, VariantAnnotationambiguousPD16388034, 18349424, 20065266, 20732351, 3495027, 4116253, 4120538, 4574753, 46571, 4818663, 5061461, 751223, 990860
PA451545sulfanilamideChemicalVariantAnnotationassociatedPD10793824
PA451547sulfasalazineChemicalClinicalAnnotation, LabelAnnotation, VariantAnnotationassociatedPD4386139
PA451718tolbutamideChemicalLabelAnnotationassociated
PA451788trimethoprimChemicalClinicalAnnotation, VariantAnnotationambiguousPD16388034, 18349424, 20065266, 20732351, 3495027, 4116253, 4120538, 4574753, 46571, 4818663, 5061461, 751223, 990860
PA451850vancomycinChemicalVariantAnnotationnot associatedPD3495027
PA451898vitamin cChemicalLabelAnnotation, VariantAnnotationassociatedPD1138591, 11418378
PA452200antithrombotic agentsChemicalLabelAnnotationassociated

References

Pubmed IDYearTitleCitations
370685132024Prevalence of Glucose-6-Phosphate Dehydrogenase Deficiency in Male Newborn Infants and Its Relationship with Neonatal Jaundice in Thailand.0
376663582024Multi-omics analyses of G6PD deficiency variants in Chinese population.0
377419112024Glucose-6-phosphate dehydrogenase deficiency accelerates arterial aging in diabetes.0
381347532024A positive correlation between mutated gene of sickle cell anemia and glucose-6-phosphate dehydrogenase among gond tribes of Chhattisgarh, India.0
381881422024Evaluating the relationship between Clinical G6PD enzyme activity and gene variants.0
381947072024G6PD is a prognostic biomarker correlated with immune infiltrates in lung adenocarcinoma and pulmonary arterial hypertension.0
384042902024Glucose-6-Phosphatase-Dehydrogenase activity as modulative association between Parkinson's disease and periodontitis.0
385937872024Associations between COVID-19 and Glucose-6-Phosphate Dehydrogenase Activity in Brazil.0
387250272024Kinetics of glucose-6-phosphate dehydrogenase (G6PD) activity during Plasmodium vivax infection: implications for early radical malaria treatment.0
388346822024Risk of diabetes mellitus based on the interactive association between G6PD rs72554664 polymorphism and sex in Taiwan Biobank individuals.0
389385712024The global role of G6PD in infection and immunity.0
370685132024Prevalence of Glucose-6-Phosphate Dehydrogenase Deficiency in Male Newborn Infants and Its Relationship with Neonatal Jaundice in Thailand.0
376663582024Multi-omics analyses of G6PD deficiency variants in Chinese population.0
377419112024Glucose-6-phosphate dehydrogenase deficiency accelerates arterial aging in diabetes.0
381347532024A positive correlation between mutated gene of sickle cell anemia and glucose-6-phosphate dehydrogenase among gond tribes of Chhattisgarh, India.0

Citation

Dessen P

G6PD (glucose-6-phosphate dehydrogenase)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/40662/g6pd