Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	2539
Gene name Gene Name - the full gene name approved by the HGNC.	Glucose-6-phosphate dehydrogenase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	G6PD
Synonyms (NCBI Gene) Gene synonyms aliases	CNSHA1, G6PD1
Chromosome Chromosome number	X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	Xq28
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes glucose-6-phosphate dehydrogenase. This protein is a cytosolic enzyme encoded by a housekeeping X-linked gene whose main function is to produce NADPH, a key electron donor in the defense against oxidizing agents and in reductive biosynth

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1050828	C>T	Pathogenic, other, not-provided, conflicting-interpretations-of-pathogenicity, uncertain-significance, drug-response	Coding sequence variant, missense variant
rs1050829	T>A,C	Pathogenic, other, conflicting-interpretations-of-pathogenicity, likely-benign, benign	Coding sequence variant, missense variant
rs2515904	G>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs5030868	G>A	Pathogenic, other, likely-pathogenic, pathogenic-likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs5030869	C>A,T	Pathogenic, other	Coding sequence variant, missense variant
rs5030872	T>A	Pathogenic, other	Coding sequence variant, missense variant
rs34193178	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs72554664	C>T	Other, pathogenic	Coding sequence variant, missense variant
rs72554665	C>A,G,T	Other, pathogenic	Coding sequence variant, missense variant
rs76645461	A>G	Other, pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs76723693	A>G	Pathogenic, conflicting-interpretations-of-pathogenicity, likely-pathogenic	Coding sequence variant, missense variant
rs78365220	A>C,G	Pathogenic	Coding sequence variant, missense variant
rs78478128	G>C	Other, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs137852314	C>T	Other, pathogenic	Coding sequence variant, missense variant
rs137852316	C>T	Other, pathogenic	Coding sequence variant, missense variant
rs137852317	C>T	Other, pathogenic	Coding sequence variant, missense variant
rs137852318	C>A,G,T	Other, pathogenic	Coding sequence variant, missense variant
rs137852320	T>C	Other, pathogenic	Coding sequence variant, missense variant
rs137852322	A>G	Pathogenic	Coding sequence variant, missense variant
rs137852325	C>T	Pathogenic	Coding sequence variant, missense variant
rs137852326	C>A,G	Other, pathogenic	Coding sequence variant, missense variant
rs137852327	C>T	Other, pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs137852328	C>A,T	Other, pathogenic	Coding sequence variant, missense variant
rs137852329	G>T	Other, pathogenic	Coding sequence variant, missense variant
rs137852330	G>A	Other, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs137852331	T>C	Other, pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs137852332	C>G,T	Other, pathogenic	Coding sequence variant, missense variant
rs137852334	G>A	Other, pathogenic	Coding sequence variant, missense variant
rs137852335	C>G	Other, pathogenic	Coding sequence variant, missense variant
rs137852336	C>T	Other, pathogenic	Coding sequence variant, missense variant
rs137852337	C>G,T	Other, pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs137852339	C>T	Other, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs137852341	C>A,T	Other, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs137852342	G>A	Other, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs137852345	G>A	Other, pathogenic	Coding sequence variant, missense variant
rs137852346	C>T	Other, pathogenic	Coding sequence variant, missense variant
rs137852347	A>G	Other, pathogenic	Coding sequence variant, missense variant
rs267606835	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs267606836	G>A	Pathogenic	Missense variant, coding sequence variant
rs387906468	C>T	Other, pathogenic	Missense variant, coding sequence variant
rs398123546	G>A	Pathogenic	Missense variant, coding sequence variant
rs398123547	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs587776730	GGTCGTCCAGGTACCCTTTGGTGG>-	Other, pathogenic	Inframe deletion, coding sequence variant
rs782090947	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1557229599	G>A	Pathogenic	Missense variant, coding sequence variant
rs1557229736	T>A	Pathogenic	Missense variant, coding sequence variant
rs1557230040	T>A	Pathogenic	Missense variant, coding sequence variant
rs1557230573	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1603411177	G>A	Pathogenic	Coding sequence variant, missense variant
rs1603411214	C>A	Pathogenic	Coding sequence variant, stop gained

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miRTarBase ID	miRNA	Experiments	Reference
MIRT002956	hsa-miR-1-3p	pSILAC	18668040
MIRT002956	hsa-miR-1-3p	Luciferase reporter assay	14697198
MIRT018235	hsa-miR-335-5p	Microarray	18185580
MIRT002956	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT002956	hsa-miR-1-3p	Proteomics	18668040
MIRT029662	hsa-miR-26b-5p	Microarray	19088304
MIRT040672	hsa-miR-92b-3p	CLASH	23622248
MIRT437467	hsa-miR-206	Luciferase reporter assay, Quantitative proteomic approach, Western blot	23921124
MIRT002956	hsa-miR-1-3p	Luciferase reporter assay, Quantitative proteomic approach, Western blot	23921124
MIRT002956	hsa-miR-1-3p	Luciferase reporter assay, qRT-PCR, Western blot	27861141
MIRT002956	hsa-miR-1-3p	Luciferase reporter assay, qRT-PCR, Western blot	27861141
MIRT002956	hsa-miR-1-3p	Luciferase reporter assay, qRT-PCR, Western blot	27861141
MIRT002956	hsa-miR-1-3p	Luciferase reporter assay, qRT-PCR, Western blot	27861141
MIRT1009033	hsa-miR-1182	CLIP-seq
MIRT1009034	hsa-miR-1193	CLIP-seq
MIRT1009035	hsa-miR-1207-5p	CLIP-seq
MIRT1009036	hsa-miR-1256	CLIP-seq
MIRT1009037	hsa-miR-1343	CLIP-seq
MIRT1009038	hsa-miR-1908	CLIP-seq
MIRT1009039	hsa-miR-2392	CLIP-seq
MIRT1009040	hsa-miR-24	CLIP-seq
MIRT1009041	hsa-miR-3130-5p	CLIP-seq
MIRT1009042	hsa-miR-3173-3p	CLIP-seq
MIRT1009043	hsa-miR-3184	CLIP-seq
MIRT1009044	hsa-miR-3677-5p	CLIP-seq
MIRT1009045	hsa-miR-3689a-3p	CLIP-seq
MIRT1009046	hsa-miR-3689c	CLIP-seq
MIRT1009047	hsa-miR-378g	CLIP-seq
MIRT1009048	hsa-miR-3926	CLIP-seq
MIRT1009049	hsa-miR-423-5p	CLIP-seq
MIRT1009050	hsa-miR-4269	CLIP-seq
MIRT1009051	hsa-miR-4425	CLIP-seq
MIRT1009052	hsa-miR-4437	CLIP-seq
MIRT1009053	hsa-miR-4482	CLIP-seq
MIRT1009054	hsa-miR-4514	CLIP-seq
MIRT1009055	hsa-miR-4640-5p	CLIP-seq
MIRT1009056	hsa-miR-4651	CLIP-seq
MIRT1009057	hsa-miR-4674	CLIP-seq
MIRT1009058	hsa-miR-4687-3p	CLIP-seq
MIRT1009059	hsa-miR-4692	CLIP-seq
MIRT1009060	hsa-miR-4726-5p	CLIP-seq
MIRT1009061	hsa-miR-4736	CLIP-seq
MIRT1009062	hsa-miR-4742-5p	CLIP-seq
MIRT1009063	hsa-miR-4754	CLIP-seq
MIRT1009064	hsa-miR-4761-3p	CLIP-seq
MIRT1009065	hsa-miR-4763-3p	CLIP-seq
MIRT1009066	hsa-miR-4779	CLIP-seq
MIRT1009067	hsa-miR-4786-5p	CLIP-seq
MIRT1009068	hsa-miR-4787-5p	CLIP-seq
MIRT1009069	hsa-miR-512-5p	CLIP-seq
MIRT1009070	hsa-miR-516a-5p	CLIP-seq
MIRT1009071	hsa-miR-516b	CLIP-seq
MIRT1009072	hsa-miR-548s	CLIP-seq
MIRT1009073	hsa-miR-608	CLIP-seq
MIRT1009074	hsa-miR-663	CLIP-seq
MIRT1009075	hsa-miR-769-5p	CLIP-seq
MIRT1009076	hsa-miR-940	CLIP-seq
MIRT1009077	hsa-miR-1	CLIP-seq
MIRT1009078	hsa-miR-1289	CLIP-seq
MIRT1009079	hsa-miR-1301	CLIP-seq
MIRT1009037	hsa-miR-1343	CLIP-seq
MIRT1009080	hsa-miR-138	CLIP-seq
MIRT1009081	hsa-miR-15a	CLIP-seq
MIRT1009082	hsa-miR-15b	CLIP-seq
MIRT1009083	hsa-miR-16	CLIP-seq
MIRT1009038	hsa-miR-1908	CLIP-seq
MIRT1009084	hsa-miR-195	CLIP-seq
MIRT1009085	hsa-miR-2467-5p	CLIP-seq
MIRT1009042	hsa-miR-3173-3p	CLIP-seq
MIRT1009086	hsa-miR-3180	CLIP-seq
MIRT1009087	hsa-miR-3180-3p	CLIP-seq
MIRT1009043	hsa-miR-3184	CLIP-seq
MIRT1009088	hsa-miR-3188	CLIP-seq
MIRT1009089	hsa-miR-3196	CLIP-seq
MIRT1009090	hsa-miR-3689d	CLIP-seq
MIRT1009091	hsa-miR-3922-5p	CLIP-seq
MIRT1009092	hsa-miR-3940-3p	CLIP-seq
MIRT1009093	hsa-miR-3944-5p	CLIP-seq
MIRT1009094	hsa-miR-3960	CLIP-seq
MIRT1009095	hsa-miR-3975	CLIP-seq
MIRT1009049	hsa-miR-423-5p	CLIP-seq
MIRT1009096	hsa-miR-424	CLIP-seq
MIRT1009097	hsa-miR-4281	CLIP-seq
MIRT1009098	hsa-miR-4299	CLIP-seq
MIRT1009099	hsa-miR-4435	CLIP-seq
MIRT1009100	hsa-miR-4449	CLIP-seq
MIRT1009101	hsa-miR-4467	CLIP-seq
MIRT1009102	hsa-miR-4504	CLIP-seq
MIRT1009054	hsa-miR-4514	CLIP-seq
MIRT1009103	hsa-miR-4524	CLIP-seq
MIRT1009104	hsa-miR-4532	CLIP-seq
MIRT1009105	hsa-miR-4533	CLIP-seq
MIRT1009055	hsa-miR-4640-5p	CLIP-seq
MIRT1009106	hsa-miR-4649-3p	CLIP-seq
MIRT1009107	hsa-miR-4660	CLIP-seq
MIRT1009058	hsa-miR-4687-3p	CLIP-seq
MIRT1009059	hsa-miR-4692	CLIP-seq
MIRT1009108	hsa-miR-4708-3p	CLIP-seq
MIRT1009109	hsa-miR-4717-5p	CLIP-seq
MIRT1009060	hsa-miR-4726-5p	CLIP-seq
MIRT1009110	hsa-miR-4747-5p	CLIP-seq
MIRT1009111	hsa-miR-4750	CLIP-seq
MIRT1009112	hsa-miR-4753-5p	CLIP-seq
MIRT1009063	hsa-miR-4754	CLIP-seq
MIRT1009066	hsa-miR-4779	CLIP-seq
MIRT1009113	hsa-miR-485-5p	CLIP-seq
MIRT1009114	hsa-miR-497	CLIP-seq
MIRT1009115	hsa-miR-503	CLIP-seq
MIRT1009116	hsa-miR-5047	CLIP-seq
MIRT1009069	hsa-miR-512-5p	CLIP-seq
MIRT1009117	hsa-miR-613	CLIP-seq
MIRT1009118	hsa-miR-646	CLIP-seq
MIRT1009074	hsa-miR-663	CLIP-seq
MIRT1009119	hsa-miR-765	CLIP-seq
MIRT1009077	hsa-miR-1	CLIP-seq
MIRT1009035	hsa-miR-1207-5p	CLIP-seq
MIRT1998972	hsa-miR-122	CLIP-seq
MIRT1009078	hsa-miR-1289	CLIP-seq
MIRT1009079	hsa-miR-1301	CLIP-seq
MIRT1009038	hsa-miR-1908	CLIP-seq
MIRT1009085	hsa-miR-2467-5p	CLIP-seq
MIRT1009042	hsa-miR-3173-3p	CLIP-seq
MIRT1009086	hsa-miR-3180	CLIP-seq
MIRT1009087	hsa-miR-3180-3p	CLIP-seq
MIRT1009043	hsa-miR-3184	CLIP-seq
MIRT1998973	hsa-miR-3187-3p	CLIP-seq
MIRT1009088	hsa-miR-3188	CLIP-seq
MIRT1009089	hsa-miR-3196	CLIP-seq
MIRT1009091	hsa-miR-3922-5p	CLIP-seq
MIRT1009092	hsa-miR-3940-3p	CLIP-seq
MIRT1009093	hsa-miR-3944-5p	CLIP-seq
MIRT1009094	hsa-miR-3960	CLIP-seq
MIRT1009095	hsa-miR-3975	CLIP-seq
MIRT1009049	hsa-miR-423-5p	CLIP-seq
MIRT1009097	hsa-miR-4281	CLIP-seq
MIRT1009099	hsa-miR-4435	CLIP-seq
MIRT1009100	hsa-miR-4449	CLIP-seq
MIRT1009101	hsa-miR-4467	CLIP-seq
MIRT1009054	hsa-miR-4514	CLIP-seq
MIRT1998974	hsa-miR-4529-5p	CLIP-seq
MIRT1009104	hsa-miR-4532	CLIP-seq
MIRT1009105	hsa-miR-4533	CLIP-seq
MIRT1009055	hsa-miR-4640-5p	CLIP-seq
MIRT1009106	hsa-miR-4649-3p	CLIP-seq
MIRT1009056	hsa-miR-4651	CLIP-seq
MIRT1009107	hsa-miR-4660	CLIP-seq
MIRT1009059	hsa-miR-4692	CLIP-seq
MIRT1009108	hsa-miR-4708-3p	CLIP-seq
MIRT1009109	hsa-miR-4717-5p	CLIP-seq
MIRT1009060	hsa-miR-4726-5p	CLIP-seq
MIRT1009061	hsa-miR-4736	CLIP-seq
MIRT1009110	hsa-miR-4747-5p	CLIP-seq
MIRT1009111	hsa-miR-4750	CLIP-seq
MIRT1009112	hsa-miR-4753-5p	CLIP-seq
MIRT1009065	hsa-miR-4763-3p	CLIP-seq
MIRT1998975	hsa-miR-4768-5p	CLIP-seq
MIRT1009066	hsa-miR-4779	CLIP-seq
MIRT1009113	hsa-miR-485-5p	CLIP-seq
MIRT1009116	hsa-miR-5047	CLIP-seq
MIRT1998976	hsa-miR-541	CLIP-seq
MIRT1998977	hsa-miR-564	CLIP-seq
MIRT1009073	hsa-miR-608	CLIP-seq
MIRT1009117	hsa-miR-613	CLIP-seq
MIRT1009074	hsa-miR-663	CLIP-seq
MIRT1009077	hsa-miR-1	CLIP-seq
MIRT1009035	hsa-miR-1207-5p	CLIP-seq
MIRT1009079	hsa-miR-1301	CLIP-seq
MIRT1009038	hsa-miR-1908	CLIP-seq
MIRT1009040	hsa-miR-24	CLIP-seq
MIRT1009085	hsa-miR-2467-5p	CLIP-seq
MIRT1998973	hsa-miR-3187-3p	CLIP-seq
MIRT1009088	hsa-miR-3188	CLIP-seq
MIRT1009047	hsa-miR-378g	CLIP-seq
MIRT1009091	hsa-miR-3922-5p	CLIP-seq
MIRT1009093	hsa-miR-3944-5p	CLIP-seq
MIRT1009095	hsa-miR-3975	CLIP-seq
MIRT1009050	hsa-miR-4269	CLIP-seq
MIRT1009052	hsa-miR-4437	CLIP-seq
MIRT1009054	hsa-miR-4514	CLIP-seq
MIRT1998974	hsa-miR-4529-5p	CLIP-seq
MIRT1009055	hsa-miR-4640-5p	CLIP-seq
MIRT1009106	hsa-miR-4649-3p	CLIP-seq
MIRT1009056	hsa-miR-4651	CLIP-seq
MIRT1009107	hsa-miR-4660	CLIP-seq
MIRT1009057	hsa-miR-4674	CLIP-seq
MIRT1009059	hsa-miR-4692	CLIP-seq
MIRT1009108	hsa-miR-4708-3p	CLIP-seq
MIRT1009109	hsa-miR-4717-5p	CLIP-seq
MIRT1009060	hsa-miR-4726-5p	CLIP-seq
MIRT1009062	hsa-miR-4742-5p	CLIP-seq
MIRT1009112	hsa-miR-4753-5p	CLIP-seq
MIRT1009065	hsa-miR-4763-3p	CLIP-seq
MIRT1009113	hsa-miR-485-5p	CLIP-seq
MIRT1009116	hsa-miR-5047	CLIP-seq
MIRT1998977	hsa-miR-564	CLIP-seq
MIRT1009073	hsa-miR-608	CLIP-seq
MIRT1009117	hsa-miR-613	CLIP-seq
MIRT1009074	hsa-miR-663	CLIP-seq
MIRT1009076	hsa-miR-940	CLIP-seq
MIRT1009041	hsa-miR-3130-5p	CLIP-seq
MIRT1009044	hsa-miR-3677-5p	CLIP-seq
MIRT1009048	hsa-miR-3926	CLIP-seq
MIRT1009053	hsa-miR-4482	CLIP-seq
MIRT1009067	hsa-miR-4786-5p	CLIP-seq
MIRT1009072	hsa-miR-548s	CLIP-seq
MIRT1009075	hsa-miR-769-5p	CLIP-seq
MIRT1998972	hsa-miR-122	CLIP-seq
MIRT1998973	hsa-miR-3187-3p	CLIP-seq
MIRT1998974	hsa-miR-4529-5p	CLIP-seq
MIRT1009056	hsa-miR-4651	CLIP-seq
MIRT1998976	hsa-miR-541	CLIP-seq
MIRT1998977	hsa-miR-564	CLIP-seq
MIRT1009073	hsa-miR-608	CLIP-seq

Transcription factors

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Transcription factor	Regulation	Reference
CREM	Repression	17273168

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GO ID	Ontology	Definition	Evidence	Reference
GO:0004345	Function	Glucose-6-phosphate dehydrogenase activity	IBA
GO:0004345	Function	Glucose-6-phosphate dehydrogenase activity	IDA	15858258, 35122041, 38066190
GO:0004345	Function	Glucose-6-phosphate dehydrogenase activity	IEA
GO:0004345	Function	Glucose-6-phosphate dehydrogenase activity	IMP	743300, 2420826, 5643703
GO:0005515	Function	Protein binding	IPI	21157431, 24769394, 35122041
GO:0005536	Function	D-glucose binding	IDA	15858258
GO:0005536	Function	D-glucose binding	IEA
GO:0005536	Function	D-glucose binding	IMP	5643703
GO:0005737	Component	Cytoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA	743300, 35122041
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006006	Process	Glucose metabolic process	IBA
GO:0006006	Process	Glucose metabolic process	IEA
GO:0006098	Process	Pentose-phosphate shunt	IDA	2297768
GO:0006098	Process	Pentose-phosphate shunt	IEA
GO:0006629	Process	Lipid metabolic process	TAS	17361089
GO:0006695	Process	Cholesterol biosynthetic process	IMP	12027950
GO:0006739	Process	NADP+ metabolic process	IDA	15858258
GO:0006740	Process	NADPH regeneration	IMP	17516514
GO:0006749	Process	Glutathione metabolic process	IMP	2420826, 17516514
GO:0009051	Process	Pentose-phosphate shunt, oxidative branch	IBA
GO:0009051	Process	Pentose-phosphate shunt, oxidative branch	IEA
GO:0009051	Process	Pentose-phosphate shunt, oxidative branch	IMP	2420826
GO:0009898	Component	Cytoplasmic side of plasma membrane	IDA	743300
GO:0010041	Process	Response to iron(III) ion	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016614	Function	Oxidoreductase activity, acting on CH-OH group of donors	IEA
GO:0019322	Process	Pentose biosynthetic process	IDA	5643703
GO:0021762	Process	Substantia nigra development	HEP	22926577
GO:0030246	Function	Carbohydrate binding	IEA
GO:0032094	Process	Response to food	IEA
GO:0034451	Component	Centriolar satellite	IDA
GO:0034599	Process	Cellular response to oxidative stress	IMP	17516514
GO:0042802	Function	Identical protein binding	IPI	24769394, 25416956
GO:0042803	Function	Protein homodimerization activity	IPI	15858258, 38066190
GO:0043249	Process	Erythrocyte maturation	IMP	5643703
GO:0043523	Process	Regulation of neuron apoptotic process	IEA
GO:0045471	Process	Response to ethanol	IEA
GO:0046390	Process	Ribose phosphate biosynthetic process	IMP	2420826
GO:0050661	Function	NADP binding	IDA	15858258
GO:0050661	Function	NADP binding	IEA
GO:0051156	Process	Glucose 6-phosphate metabolic process	IDA	15858258, 38066190
GO:0051156	Process	Glucose 6-phosphate metabolic process	IEA
GO:0051156	Process	Glucose 6-phosphate metabolic process	IMP	5643703
GO:0061052	Process	Negative regulation of cell growth involved in cardiac muscle cell development	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:1904879	Process	Positive regulation of calcium ion transmembrane transport via high voltage-gated calcium channel	IEA
GO:2000378	Process	Negative regulation of reactive oxygen species metabolic process	IEA

MIM	HGNC	e!Ensembl
305900	4057	ENSG00000160211

Protein

UniProt ID

P11413

Protein name

Glucose-6-phosphate 1-dehydrogenase (G6PD) (EC 1.1.1.49)

Protein function

Catalyzes the rate-limiting step of the oxidative pentose-phosphate pathway, which represents a route for the dissimilation of carbohydrates besides glycolysis. The main function of this enzyme is to provide reducing power (NADPH) and pentose ph

PDB

1QKI , 2BH9 , 2BHL , 5UKW , 6E07 , 6E08 , 6JYU , 6VA0 , 6VA7 , 6VA8 , 6VA9 , 6VAQ , 7SEH , 7SEI , 7SNF , 7SNG , 7SNH , 7SNI , 7TOE , 7TOF , 7UAG , 7UAL , 7UC2 , 7ZVD

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00479	G6PD_N	35 → 210	Glucose-6-phosphate dehydrogenase, NAD binding domain	Domain
PF02781	G6PD_C	212 → 509	Glucose-6-phosphate dehydrogenase, C-terminal domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Isoform Long is found in lymphoblasts, granulocytes and sperm.

Sequence

MAEQVALSRTQVCGILREELFQGDAFHQSDTHIFIIMGASGDLAKKKIYPTIWWLFRDGL
LPENTFIVGYARSRLTVADIRKQSEPFFKATPEEKLKLEDFFARNSYVAGQYDDAASYQR
LNSHMNALHLGSQANRLFYLALPPTVYEAVTKNIHESCMSQIGWNRIIVEKPFGRDLQSS
DRLSNHISSLFREDQIYRIDHYLGKEMVQNLMVLRFANRIFGPIWNRDNIACVILTFKEP
FGTEGRGGYFDEFGIIRDVMQNHLLQMLCLVAMEKPASTNSDDVRDEKVKVLKCISEVQA
NNVVLGQYVGNPDGEGEATKGYLDDPTVPRGSTTATFAAVVLYVENERWDGVPFILRCGK
ALNERKAEVRLQFHDVAGDIFHQQCKRNELVIRVQPNEAVYTKMMTKKPGMFFNPEESEL
DLTYGNRYKNVKLPDAYERLILDVFCGSQMHFVRSDELREAWRIFTPLLHQIELEKPKPI
PYIYGSRGPTEADELMKRVGFQYEGTYKWVNPHKL

Sequence length

515

Interactions

View interactions

	KEGG		Reactome
	Pentose phosphate pathway Glutathione metabolism Metabolic pathways Carbon metabolism Central carbon metabolism in cancer Diabetic cardiomyopathy		TP53 Regulates Metabolic Genes Pentose phosphate pathway

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Anemia	anemia, nonspherocytic hemolytic, due to g6pd deficiency, G6PD deficiency	rs137852347, rs72554665, rs137852330, rs1557230040, rs137852317, rs137852349, rs387906468, rs137852331, rs782090947, rs137852340, rs137852318, rs137852332, rs5030872, rs1557229736, rs137852341 View all (38 more)	N/A
Coronary artery disease	Early-onset coronary artery disease	rs137852340	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Diabetes	Type 2 diabetes	N/A	N/A	GWAS
Systemic lupus erythematosus	Systemic lupus erythematosus	N/A	N/A	GWAS

Show/Hide Text Mining Associations (162)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
6 Phosphogluconolactonase Deficiency	Associate	3858849
Acute Disease	Associate	35368337
Acute Febrile Encephalopathy	Associate	31590661
Acute malaria	Associate	28793894
Adenocarcinoma of Lung	Associate	37315289
Adenocarcinoma of Lung	Stimulate	38194707
Adrenoleukodystrophy	Associate	6795626
Anemia	Associate	18305266, 20200584, 32680472, 34014839, 7858267
Anemia Diamond Blackfan	Associate	34526430
Anemia Hemolytic	Associate	10745013, 15621740, 18568599, 22112733, 22139979, 2222408, 2836867, 29858578, 3012556, 33637102, 3393536, 35368337, 35858355, 36191877, 3858849 View all (7 more)
Anemia Hemolytic Congenital	Associate	37697358
Anemia Hemolytic Congenital Nonspherocytic	Associate	10556177, 10666231, 12130518, 12846, 1999409, 24993877, 29072585, 7353069, 7858267, 8111051
Anemia Sickle Cell	Associate	1174693, 16356170, 20507315, 20842242, 22958163, 24666344, 29555644, 31213470, 34014839
Anophthalmia with pulmonary hypoplasia	Associate	37597521
Ataxia Telangiectasia	Associate	3812485
Atherosclerosis	Associate	30072850, 657452
Autoimmune Diseases	Associate	28627690
Breast Neoplasms	Associate	26607846, 26715276, 28260828, 29682102, 30987650, 32028979, 35597872, 36048131
Breast Neoplasms	Stimulate	27356773
Carcinogenesis	Associate	36048131, 38077440
Carcinoma Hepatocellular	Associate	24203292, 24994855, 26583321, 26621836, 28378759, 29471502, 29904144, 3012556, 32104698, 35712981, 36133439, 36347033, 37248957, 37599085, 37993470, 39383169, 39528670, 40621461 View all (3 more)
Carcinoma Hepatocellular	Stimulate	38297250
Carcinoma Merkel Cell	Associate	33361404
Carcinoma Non Small Cell Lung	Associate	32153123, 35597872, 37410361, 37950872, 38077440
Carcinoma Renal Cell	Associate	32319593, 33564363
Carcinoma Squamous Cell	Associate	38077440
Cardiovascular Diseases	Associate	30072850
Cell Transformation Neoplastic	Associate	37781025
Cerebral Infarction	Associate	22958163
Cerebrovascular Disorders	Associate	22958163
Cholestasis	Associate	20949590, 33162974
Cicatrix	Associate	7468759
Colonic Neoplasms	Associate	20186333
Colorectal Neoplasms	Associate	28542136, 36127319, 36147458, 36369902, 37781025, 37870214
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	18305266
Coronary Artery Disease	Associate	26944061
COVID 19	Associate	33439304, 34330510
Dermoid Cyst	Associate	5259759
Diabetes Gestational	Associate	31583916
Diabetes Mellitus	Associate	31213470
Diabetes Mellitus Type 1	Associate	15914531
Disease	Associate	34014839
Drug Related Side Effects and Adverse Reactions	Inhibit	22848499
Drug Related Side Effects and Adverse Reactions	Associate	24937102, 30987650, 36746659
Essential Hypertension	Associate	34996340
Fabry Disease	Associate	20507315
Familial Primary Pulmonary Hypertension	Associate	30161219
Fatigue	Associate	31701865
Fatigue Syndrome Chronic	Associate	33669532
Favism	Associate	10745013, 25339475, 3393536, 36614084
Fibrocystic Breast Disease	Associate	168914
Fibrosis	Associate	35676709
Fragile X Syndrome	Associate	3924593
Gaucher Disease	Associate	38391334
Genetic Diseases Inborn	Associate	15885137, 16356170, 29257243, 40447697
Glioma	Associate	27711253, 34573317
Glucosephosphate Dehydrogenase Deficiency	Associate	10745013, 1174693, 11985579, 12027950, 12130518, 12696079, 14978696, 15065213, 1611091, 16119988, 16356170, 17182638, 17273168, 17637841, 17726510 View all (81 more)
Glucosephosphate Dehydrogenase Deficiency	Inhibit	14978696, 1999409, 23258327, 24943486, 27053284, 28627690, 31793705, 36008815, 4397065, 7401130, 9674740
Glycogen Storage Disease XII	Inhibit	15621740
Glycogen Storage Disease XII	Associate	21931771, 33887194
Granulomatous Disease Chronic	Associate	14978696, 7949143
Head and Neck Neoplasms	Associate	33859744
Hemoglobinopathies	Associate	31703724
Hemoglobinuria	Associate	19589177, 31701865
Hemolysis	Associate	12846, 20949590, 23926329, 24913169, 25786434, 26599634, 28826608, 30072850, 34014839, 34270547, 34643346, 35247950, 38188142, 3858849, 8241497
Hemolytic Uremic Syndrome	Associate	26249834, 28852037
Hemophagocytic Lymphohistiocytosis Familial 5	Associate	33162974
Hemophilia A	Associate	623105, 6421151
Hemophilia B	Associate	3924593
Hepatitis B	Stimulate	26583321
Hepatitis B	Associate	28260828
Hepatitis C Chronic	Associate	39336707
Homocystinuria	Associate	6940198
Hyperbilirubinemia	Associate	31862010
Hyperbilirubinemia Neonatal	Associate	20949590, 28069791, 31862010, 8571933
Hyperglycemia	Associate	31583916
Hypersensitivity Immediate	Inhibit	27388012
Hypersensitivity Immediate	Associate	27388012
Hypertension	Associate	35283964
Hypoxia	Stimulate	35408935
Immune System Diseases	Associate	35687490
Immunologic Deficiency Syndromes	Associate	30665411, 7825590
Infant Newborn Diseases	Associate	20949590
Infections	Associate	10556177, 25786434, 2836867, 32697331, 39457422
Inflammation	Associate	27097228, 28627690, 37248957, 37588055
Insulin Resistance	Associate	15914531
Jaundice	Associate	32680472, 39295190
Jaundice Neonatal	Associate	10745013, 28627690, 33637102, 35368337, 5697334, 8571933
Lesch Nyhan Syndrome	Associate	4522803, 5263751
Leukemia	Associate	3862437, 6972238
Leukemia Erythroblastic Acute	Associate	6574795
Leukemia Lymphocytic Chronic B Cell	Associate	22848499
Leukemia Monocytic Acute	Associate	10765922, 6592008
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	1373089, 3855667, 6930309, 6931619
Leukemia Myeloid Acute	Associate	1373089, 26596840, 278630, 3470307, 35408935, 6592008, 6939452
Leukocyte Disorders	Associate	10556177, 12130518
Light Fixation Seizure Syndrome	Associate	18663006
Lipid Metabolism Disorders	Associate	34996340
Livedoid Vasculopathy	Associate	22958163
Liver Diseases	Associate	16304354
Liver Failure	Associate	20949590
Lung Neoplasms	Associate	37315289
Lymphatic Metastasis	Stimulate	22012600
Lymphatic Metastasis	Associate	33361404
Lymphohistiocytosis Hemophagocytic	Associate	33162974
Lymphoma	Associate	35687490
Lymphoma B Cell	Associate	22848499
Lymphoma Large B Cell Diffuse	Associate	35687490
Lymphoma Mantle Cell	Associate	22848499
Malaria	Associate	12524354, 16356170, 20842242, 23614351, 25015414, 25885177, 26249834, 28541483, 28793894, 32697331, 34014839, 3552078, 36462528, 6349716, 817597
Malaria	Inhibit	23144702
Malaria Falciparum	Associate	29065882
Malaria Vivax	Associate	25889063, 31969155, 36508454
Metabolism Inborn Errors	Associate	17637841, 3393536, 8808605
Metabolism Inborn Errors	Inhibit	1978555
Multiple Myeloma	Associate	22848499
Muscular Dystrophy Duchenne	Associate	3989823
Myelodysplastic Syndromes	Associate	6326894, 8453104
Neoplasm Metastasis	Stimulate	22012600, 29471502
Neoplasm Metastasis	Associate	26607846, 28260828, 29954422, 32028979, 35213227, 35857842
Neoplasms	Associate	20186333, 20426867, 2168088, 22012600, 24994855, 25616277, 28627690, 29471502, 30987650, 32152520, 32319593, 32596991, 33361404, 35712981, 36048131, 37149513, 37781025, 6326894, 7211845 View all (4 more)
Neoplasms	Stimulate	22535206, 24270845, 27356773, 29904144
Neoplasms	Inhibit	25644430
Obesity	Stimulate	34330510
Oculocerebrorenal Syndrome	Associate	7180850
Osteosarcoma	Associate	37285835
Ototoxicity	Associate	28826608
Ovarian Neoplasms	Associate	26884841
Pancreatic Neoplasms	Associate	33197892, 37597521
Pancreatic Neoplasms	Stimulate	35857842
Pancytopenia	Associate	6690481
Papillomavirus Infections	Associate	25616277
Parasitemia	Associate	33891581
Parasitic Diseases	Associate	822772
Parkinson Disease	Associate	36593912
pediatric multisystem inflammatory disease COVID 19 related	Associate	37588055
Plaque Atherosclerotic	Associate	1190295, 842615
Pneumonia	Associate	33439304
Polycythemia Vera	Associate	3921571, 500813, 6932405
Pre Eclampsia	Associate	34996340
Prediabetic State	Associate	31213470
Progressive hearing loss stapes fixation	Associate	33439304
Prostatic Neoplasms	Associate	29954422, 35213227
Prostatitis	Associate	20881409
Pulmonary Arterial Hypertension	Associate	30161219
Pulmonary Arterial Hypertension	Stimulate	38194707
Red Cell Aplasia Pure	Associate	3858849
Respiratory Distress Syndrome	Associate	33439304
Reticulocytosis	Associate	36419023
Rhabdomyosarcoma	Associate	25644430
Squamous Cell Carcinoma of Head and Neck	Associate	33859744
Stomach Neoplasms	Associate	22012600
Stroke	Associate	24666344
Syndrome	Associate	19589177
Thalassemia	Associate	6305442
Thrombocythemia Essential	Associate	3921571
Thyroid Cancer Papillary	Inhibit	29978611
Triple Negative Breast Neoplasms	Associate	26715276
Urinary Bladder Neoplasms	Associate	34418989
Uterine Cervical Neoplasms	Associate	25616277
Vascular Diseases	Associate	35666067
Wiskott Aldrich Syndrome	Associate	7437512

G6PD (glucose-6-phosphate dehydrogenase)